부산대학교 도서관

Lim TP; Wang R; Poh GQ; Koh TH; Tan TY; Lee W; Teo JQ; Cai Y; Tan TT; Ee PLR; Kwa AL

Infection and Drug Resistance, Vol Volume 11, Pp 1591-1596 (2018)

Tan TY; Laboratory Medicine, Changi General Hospital, Singapore, Singapore. Electronic address: tan.thean.yen@singhealth.com.sg.; Li J; Department of Infection Prevention and Control, Changi General Hospital, Singapore, Singapore.; Ching EL; Laboratory, Changi General Hospital, Singapore, Singapore.; Leong YY; Laboratory, Changi General Hospital, Singapore, Singapore.; An R; Department of Infection Prevention and Control, Changi General Hospital, Singapore, Singapore.; Binte Abu Bakar F; Laboratory, Changi General Hospital, Singapore, Singapore.; Thevasagayam NM; National Centre for Infectious Diseases, Singapore, Singapore.; Dennis Loy SQ; National Centre for Infectious Diseases, Singapore, Singapore.; Rama Sridatta PS; National Centre for Infectious Diseases, Singapore, Singapore.; Chua JJ; National Centre for Infectious Diseases, Singapore, Singapore.; Marimuthu K; National Centre for Infectious Diseases, Singapore, Singapore; Department of Infectious Diseases, Tan Tock Seng Hospital, Singapore, Singapore; Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.; Ng OT; National Centre for Infectious Diseases, Singapore, Singapore; Department of Infectious Diseases, Tan Tock Seng Hospital, Singapore, Singapore; Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore, Singapore.

Publisher: W.B. Saunders For The Hospital Infection Society Country of Publication: England NLM ID: 8007166 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2939 (Electronic) Linking ISSN: 01956701 NLM ISO Abbreviation: J Hosp Infect Subsets: MEDLINE

Atlas G; Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.; Royal Children's Hospital Melbourne, Parkville, Victoria, Australia.; Hanna C; Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.; Royal Children's Hospital Melbourne, Parkville, Victoria, Australia.; Tan TY; Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.; Royal Children's Hospital Melbourne, Parkville, Victoria, Australia.; Victorian Clinical Genetics Services, Parkville, Victoria, Australia.; Nisselle A; Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.; Tucker E; Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.; Ayers K; Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.; Sinclair A; Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.; O'Connell MA; Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.; Royal Children's Hospital Melbourne, Parkville, Victoria, Australia.

Publisher: Blackwell Publishing Country of Publication: England NLM ID: 0346653 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2265 (Electronic) Linking ISSN: 03000664 NLM ISO Abbreviation: Clin Endocrinol (Oxf) Subsets: MEDLINE

Le Q; Department of Dermatology, The Royal Children's Hospital Melbourne, Melbourne, Victoria, Australia.; Le Fevre A; Victorian Clinical Genetics Services, The Royal Children's Hospital Melbourne, Melbourne, Victoria, Australia.; Tan TY; Victorian Clinical Genetics Services, The Royal Children's Hospital Melbourne, Melbourne, Victoria, Australia.; Robertson S; Department of Dermatology, The Royal Children's Hospital Melbourne, Melbourne, Victoria, Australia.

Publisher: Oxford University Press Country of Publication: England NLM ID: 7606847 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2230 (Electronic) Linking ISSN: 03076938 NLM ISO Abbreviation: Clin Exp Dermatol Subsets: MEDLINE

Chen Y; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK.; Dawes R; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK.; Kim HC; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK.; Ljungdahl A; Institute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, UK.; Department of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA, USA.; Stenton SL; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Walker S; Genomics England, London, UK.; Lord J; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK.; Lemire G; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Martin-Geary AC; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK.; Ganesh VS; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Department of Neurology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.; Ma J; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Ellingford JM; Genomics England, London, UK.; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester, UK.; Delage E; Human Genetics, Wellcome Sanger Institute, Hinxton, UK.; D'Souza EN; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK.; Dong S; Institute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, UK.; Department of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA, USA.; Adams DR; Undiagnosed Disesases Program, National Human Genome Research Institute, Bethesda, MD, USA.; Allan K; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Bakshi M; Department of Clinical Genetics, Liverpool Hospital, Sydney, New South Wales, Australia.; Baldwin EE; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.; Berger SI; Center for Genetic Medicine Research, Children's National Research Institute, Washington, DC, USA.; Division of Genetics and Metabolism, Children's National Hospital, Washington, DC, USA.; Bernstein JA; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.; GREGoR Stanford Site, Stanford University School of Medicine, Stanford, CA, USA.; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.; Bhatnagar I; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Blair E; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Brown NJ; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Chapman K; Division of Genetics and Metabolism, Children's National Hospital, Washington, DC, USA.; Coman DJ; Department of Metabolic Medicine, Queensland Children's Hospital, Brisbane, Queensland, Australia.; Faculty of Medicine, University of Queensland, Brisbane, Queensland, Australia.; School of Medicine, Griffith university, Gold Coast, Queensland, Australia.; Compton AG; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Cunningham CA; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; D'Souza P; Undiagnosed Disesases Program, National Human Genome Research Institute, Bethesda, MD, USA.; Danecek P; Human Genetics, Wellcome Sanger Institute, Hinxton, UK.; Délot EC; Center for Genetic Medicine Research, Children's National Research Institute, Washington, DC, USA.; Dias KR; Neuroscience Research Australia, Sydney, New South Wales, Australia.; Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, New South Wales, Australia.; Elias ER; Department of Pediatrics, Children's Hospital Colorado, Aurora, CO, USA.; University of Colorado School of Medicine, University of Colorado, Aurora, CO, USA.; Elmslie F; South West Thames Centre for Genomics, St George's University Hospitals NHS Foundation Trust, London, UK.; Evans CA; Neuroscience Research Australia, Sydney, New South Wales, Australia.; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, New South Wales, Australia.; Ewans L; Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia.; Centre for Clinical Genetics, Sydney Children's Hospitals Network, Randwick, New South Wales, Australia.; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Darlinghurst, North South Wales, Australia.; Ezell K; Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Fraser JL; Center for Genetic Medicine Research, Children's National Research Institute, Washington, DC, USA.; Division of Genetics and Metabolism, Children's National Hospital, Washington, DC, USA.; Gallacher L; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Genetti CA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Goriely A; MRC Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.; NIHR Biomedical Research Centre, Oxford, UK.; Grant CL; Division of Genetics and Metabolism, Children's National Hospital, Washington, DC, USA.; Haack T; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Center for Rare Diseases Tübingen, University of Tübingen, Tübingen, Germany.; Higgs JE; Liverpool Centre for Genomic Medicine, Liverpool Women's Hospital, Liverpool, UK.; Hinch AG; Centre for Human Genetics, University of Oxford, Oxford, UK.; Hurles ME; Human Genetics, Wellcome Sanger Institute, Hinxton, UK.; Kuechler A; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Lachlan KL; Wessex Clinical Genetics Service, University Hospital Southampton NHS Trust, Southampton, UK.; Department of Human Genetics and Genomic Medicine, Southampton University, Southampton, UK.; Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Lecoquierre F; University of Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, Rouen, France.; Leitão E; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Fevre AL; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Leventer RJ; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Royal Children's Hospital, Melbourne, Victoria, Australia.; Liebelt JE; Paediatric and Reproductive Genetics Unit, South Australian Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, South Australia, Australia.; Repromed, Dulwich, South Australia, Australia.; Lindsay S; Human Genetics, Wellcome Sanger Institute, Hinxton, UK.; Lockhart PJ; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Bruce Lefroy Centre, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Ma AS; Department of Clinical Genetics, Sydney Children's Hospitals Network Westmead, Sydney, New South Wales, Australia.; Specialty of Genomic Medicine, University of Sydney, Sydney, New South Wales, Australia.; Macnamara EF; Undiagnosed Disesases Program, National Human Genome Research Institute, Bethesda, MD, USA.; Mansour S; South West Thames Centre for Genomics, St George's University Hospitals NHS Foundation Trust, London, UK.; Maurer TM; GREGoR Stanford Site, Stanford University School of Medicine, Stanford, CA, USA.; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.; Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA.; Mendez HR; GREGoR Stanford Site, Stanford University School of Medicine, Stanford, CA, USA.; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.; Department of Medicine - Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA, USA.; Metcalfe K; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Montgomery SB; GREGoR Stanford Site, Stanford University School of Medicine, Stanford, CA, USA.; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.; Department of Pathology, Department of Genetics, Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA, USA.; Moosajee M; UCL Institute of Ophthalmology, London, UK.; The Francis Crick Institute, London, UK.; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Nassogne MC; Service de Neurologie Pédiatrique, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium.; Institut des Maladies Rares, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium.; Neumann S; Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; O'Donoghue M; Nottingham University Hospitals NHS Trust, Nottingham, UK.; O'Leary M; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Palmer EE; Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia.; Centre for Clinical Genetics, Sydney Children's Hospitals Network, Randwick, New South Wales, Australia.; Pattani N; South West Thames Centre for Genomics, St George's University Hospitals NHS Foundation Trust, London, UK.; Phillips J; Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Pitsava G; Institute for Clinical and Translational Research, University of California Irvine, Irvine, CA, USA.; Pysar R; Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia.; Centre for Clinical Genetics, Sydney Children's Hospitals Network, Randwick, New South Wales, Australia.; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.; Rehm HL; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Reuter CM; GREGoR Stanford Site, Stanford University School of Medicine, Stanford, CA, USA.; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.; Department of Medicine - Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA, USA.; Revencu N; Center for Human Genetics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.; Riess A; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Rius R; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Rodan L; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Roscioli T; Neuroscience Research Australia, Sydney, New South Wales, Australia.; Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, New South Wales, Australia.; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, New South Wales, Australia.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Sachdev R; Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia.; Centre for Clinical Genetics, Sydney Children's Hospitals Network, Randwick, New South Wales, Australia.; Shaw-Smith CJ; Department of Clinical Genetics, Peninsula Regional Clinical Genetics Service, Royal Devon University Hospital, Exeter, UK.; Simons C; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Sisodiya SM; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK.; UK and Chalfont Centre for Epilepsy, Chalfont St Peter, UK.; Snell P; Bruce Lefroy Centre, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; St Clair L; Department of Clinical Genetics, Sydney Children's Hospitals Network Westmead, Sydney, New South Wales, Australia.; Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Stewart HS; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Tan NB; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Temple SEL; Department of Clinical Genetics, Liverpool Hospital, Sydney, New South Wales, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, New South Wales, Australia.; Thorburn DR; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Tifft CJ; Undiagnosed Disesases Program, National Human Genome Research Institute, Bethesda, MD, USA.; Uebergang E; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; VanNoy GE; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Vasudevan P; Medical Genetics, University of Leicester, Leicester Royal Infirmary, Leicester, UK.; Vilain E; Institute for Clinical and Translational Science, University of California Irvine, Irvine, CA, USA.; Viskochil DH; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.; Wedd L; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Wheeler MT; GREGoR Stanford Site, Stanford University School of Medicine, Stanford, CA, USA.; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.; Department of Medicine - Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA, USA.; White SM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Wojcik M; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Division of Newborn Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Wolfe LA; Undiagnosed Disesases Program, National Human Genome Research Institute, Bethesda, MD, USA.; Wolfenson Z; Undiagnosed Disesases Program, National Human Genome Research Institute, Bethesda, MD, USA.; Wright CF; Department of Clinical and Biomedical Sciences, University of Exeter, Exeter, UK.; Xiao C; Department of Neurology, University of California Irvine, Irvine, CA, USA.; Zocche D; North West Thames Regional Genetics Service, Northwick Park and St Mark's Hospitals, London, UK.; Rubenstein JL; Department of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA, USA.; Markenscoff-Papadimitriou E; Department of Psychiatry, Langley Porter Psychiatric Institute, UCSF Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA, USA.; Fica SM; Department of Biochemistry, University of Oxford, Oxford, UK.; Baralle D; School of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.; National Institute for Health Research (NIHR) Southampton Biomedical Research Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK.; Depienne C; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; MacArthur DG; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Howson JMM; Human Genetics Centre of Excellence, Novo Nordisk Research Centre, Oxford, UK.; Sanders SJ; Institute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, UK.; Department of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA, USA.; O'Donnell-Luria A; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Whiffin N; Big Data Institute, University of Oxford, Oxford, UK. nwhiffin@well.ox.ac.uk.; Centre for Human Genetics, University of Oxford, Oxford, UK. nwhiffin@well.ox.ac.uk.; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. nwhiffin@well.ox.ac.uk.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE

Tan TY; Department of Microbiology, Singapore General Hospital, Singapore. Electronic address: teryong.tan@mohh.com.sg.; Wang YS; W. Skin and Laser Clinic, Mount Elizabeth Novena Specialist Centre, Singapore.; Wong XYA; Anglo-Chinese School (Independent), Singapore.; Rajandran P; Department of Microbiology, Singapore General Hospital, Singapore.; Tan MG; Department of Microbiology, Singapore General Hospital, Singapore.; Tan AL; Department of Microbiology, Singapore General Hospital, Singapore; Duke-NUS Medical School, Singapore.; Tan YE; Department of Microbiology, Singapore General Hospital, Singapore; Duke-NUS Medical School, Singapore.

Publisher: Lippincott Williams & Wilkins Country of Publication: England NLM ID: 0175411 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1465-3931 (Electronic) Linking ISSN: 00313025 NLM ISO Abbreviation: Pathology Subsets: MEDLINE

Ng W; Microbiology, Singapore General Hospital, Singapore.; Tan TY; Microbiology, Singapore General Hospital, Singapore tanteryong87@gmail.com.; Chow XYV; Microbiology, Singapore General Hospital, Singapore.; Lim SH; Microbiology, Singapore General Hospital, Singapore.; Wan WY; Microbiology, Singapore General Hospital, Singapore.; SingHealth DUKE-NUS Pathology Academic Clinical Programme, Singapore.

Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 0376601 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1472-4146 (Electronic) Linking ISSN: 00219746 NLM ISO Abbreviation: J Clin Pathol Subsets: MEDLINE

Wojcik MH; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Lemire G; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Berger E; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Zaki MS; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Wissmann M; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Win W; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; White SM; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Weisburd B; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Wieczorek D; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Waddell LB; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Verboon JM; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; VanNoy GE; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Töpf A; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Tan TY; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Syrbe S; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Strehlow V; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Straub V; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Stenton SL; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Snow H; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Singer-Berk M; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Silver J; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Shril S; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Seaby EG; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Schneider R; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Sankaran VG; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Sanchis-Juan A; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Russell KA; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Reinson K; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Ravenscroft G; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Radtke M; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Popp D; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Polster T; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Platzer K; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Pierce EA; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Place EM; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Pajusalu S; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Pais L; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Õunap K; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Osei-Owusu I; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Opperman H; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Okur V; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Oja KT; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; O'Leary M; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; O'Heir E; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Morel CF; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Merkenschlager A; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Marchant RG; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Mangilog BE; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Madden JA; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; MacArthur D; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Lovgren A; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Lerner-Ellis JP; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Lin J; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Laing N; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Hildebrandt F; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Hentschel J; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Groopman E; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Goodrich J; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Gleeson JG; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Ghaoui R; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Genetti CA; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Gburek-Augustat J; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Gazda HT; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Ganesh VS; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Ganapathi M; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Gallacher L; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Fu JM; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Evangelista E; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; England E; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Donkervoort S; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; DiTroia S; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Cooper ST; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Chung WK; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Christodoulou J; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Chao KR; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Cato LD; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Bujakowska KM; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Bryen SJ; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Brand H; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Bönnemann CG; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Beggs AH; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Baxter SM; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Bartolomaeus T; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Agrawal PB; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Talkowski M; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Austin-Tse C; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Abou Jamra R; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Rehm HL; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; O'Donnell-Luria A; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).

Publisher: Massachusetts Medical Society Country of Publication: United States NLM ID: 0255562 Publication Model: Print Cited Medium: Internet ISSN: 1533-4406 (Electronic) Linking ISSN: 00284793 NLM ISO Abbreviation: N Engl J Med Subsets: MEDLINE

Sandretti-Silva G; Departamento de Ciências Biológicas e Ambientais, Universidade Estadual Paulista (UNESP), Instituto de Biociências, Praça Infante Dom Henrique, S/No, São Vicente, 11330-900, Brazil. giovanna.sandretti@unesp.br.; Vannucchi FS; Departamento de Ciências Biológicas e Ambientais, Universidade Estadual Paulista (UNESP), Instituto de Biociências, Praça Infante Dom Henrique, S/No, São Vicente, 11330-900, Brazil.; Teixeira L; Mater Natura - Instituto de Estudos Ambientais, Rua Emiliano Perneta, 297, Conjunto 122, Curitiba, 80010-050, Brazil.; Tan TY; Wageningen University & Research, Aquaculture and Fisheries Group, Korringaweg, 7, Yerseke, 4401 NT, The Netherlands.; Aquaculture and Fisheries Group, Wageningen University & Research, De Elst, 1, Wageningen, 6708 WD, The Netherlands.; Mori GM; Departamento de Ciências Biológicas e Ambientais, Universidade Estadual Paulista (UNESP), Instituto de Biociências, Praça Infante Dom Henrique, S/No, São Vicente, 11330-900, Brazil.; Reinert BL; Departamento de Ciências Biológicas e Ambientais, Universidade Estadual Paulista (UNESP), Instituto de Biociências, Praça Infante Dom Henrique, S/No, São Vicente, 11330-900, Brazil.; Bornschein MR; Departamento de Ciências Biológicas e Ambientais, Universidade Estadual Paulista (UNESP), Instituto de Biociências, Praça Infante Dom Henrique, S/No, São Vicente, 11330-900, Brazil. marcos.bornschein@unesp.br.

Publisher: Springer Country of Publication: Netherlands NLM ID: 8508350 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-2959 (Electronic) Linking ISSN: 01676369 NLM ISO Abbreviation: Environ Monit Assess Subsets: MEDLINE

Lemire G; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA. Electronic address: glemiret@broadinstitute.org.; Sanchis-Juan A; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Harvard Medical School, Boston, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Russell K; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Baxter S; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Chao KR; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Singer-Berk M; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Groopman E; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Wong I; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; England E; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Goodrich J; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Pais L; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Austin-Tse C; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; DiTroia S; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; O'Heir E; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Ganesh VS; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Department of Neurology, Brigham and Women's Hospital, Boston, MA, USA.; Wojcik MH; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Evangelista E; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Snow H; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Osei-Owusu I; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Fu J; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Harvard Medical School, Boston, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Singh M; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Mostovoy Y; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Huang S; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Garimella K; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Kirkham SL; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Neil JE; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA.; Shao DD; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Walsh CA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA.; Argilli E; Department of Neurology, University of California, San Francisco, San Francisco, CA, USA; Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.; Le C; Department of Neurology, University of California, San Francisco, San Francisco, CA, USA; Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.; Sherr EH; Department of Neurology, University of California, San Francisco, San Francisco, CA, USA; Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.; Gleeson JG; Department of Neurosciences, University of California, San Diego, La Jolla, CA, USA; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.; Shril S; Harvard Medical School, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Schneider R; Harvard Medical School, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Hildebrandt F; Harvard Medical School, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Sankaran VG; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Harvard Medical School, Boston, MA, USA; Division of Hematology/Oncology, Boston Children's Hospital and Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.; Madden JA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Genetti CA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Beggs AH; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Agrawal PB; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Bujakowska KM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Harvard Medical School, Boston, MA, USA; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Boston, MA, USA.; Place E; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Harvard Medical School, Boston, MA, USA; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Boston, MA, USA.; Pierce EA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Harvard Medical School, Boston, MA, USA; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Boston, MA, USA.; Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Gallacher L; Department of Paediatrics, University of Melbourne, Parkville, VIC, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC, Australia.; Stark Z; Department of Paediatrics, University of Melbourne, Parkville, VIC, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC, Australia.; Tan TY; Department of Paediatrics, University of Melbourne, Parkville, VIC, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC, Australia.; White SM; Department of Paediatrics, University of Melbourne, Parkville, VIC, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC, Australia.; Töpf A; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Straub V; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Fleming MD; Harvard Medical School, Boston, MA, USA; Department of Pathology, Boston Children's Hospital, Boston, MA, USA.; Pollak MR; Harvard Medical School, Boston, MA, USA; Division of Nephrology, Beth Israel Deaconess Medical Center, Boston, MA, USA.; Õunap K; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia; Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, Faculty of Medicine, University of Tartu, Tartu, Estonia.; Pajusalu S; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia; Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, Faculty of Medicine, University of Tartu, Tartu, Estonia.; Donald KA; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, Cape Town, South Africa; Neuroscience Institute, University of Cape Town, Cape Town, South Africa.; Bruwer Z; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, Cape Town, South Africa; Neuroscience Institute, University of Cape Town, Cape Town, South Africa.; Ravenscroft G; University of Western Australia Centre for Medical Research, Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia.; Laing NG; University of Western Australia Centre for Medical Research, Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia.; MacArthur DG; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW, Sydney, NSW, Australia; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Rehm HL; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Harvard Medical School, Boston, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Talkowski ME; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Harvard Medical School, Boston, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Brand H; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Harvard Medical School, Boston, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; O'Donnell-Luria A; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA. Electronic address: odonnell@broadinstitute.org.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE