부산대학교 도서관

Schwartz CE; Senior Research Scientist Emeritus, Greenwood Genetic Center, Greenwood, South Carolina, USA.; Aylsworth AS; Emeritus Professor of Pediatrics and Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.; Allanson J; Professor of Paediatrics, University of Ottawa, Ottawa, Canada.; Clinical Geneticist, Children's Hospital of Eastern Ontario (Retired), Ottawa, Canada.; Battaglia A; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy.; Carey JC; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA.; Curry CJ; Professor of Pediatrics, Emerita, UCSF, Adjunct Professor of Pediatrics, Stanford, Medical Director Genetic Medicine, Community Regional Medical Center, Fresno, California, USA.; Davies KE; Department of Physiology, Anatomy and Genetics, MDUK Oxford Neuromuscular Centre, Oxford, UK.; Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, Washington, USA.; Graham JM Jr; Professor Emeritus, Division of Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, and David Geffen School of Medicine, University of California, Los Angeles (UCLA), Los Angeles, California, USA.; Hall B; Emeritus, Department of Pediatrics, University of Kentucky, Lexington, Kentucky, USA.; Hall JG; University of British Columbia and Children's and Women's Health Centre of British Columbia, Vancouver, British Columbia, Canada.; Department of Pediatrics and Medical Genetics, British Columbia Children's Hospital, Vancouver, Canada.; Holmes LB; Emeritus Chief, Medical Genetics and Metabolism Unit, Mass General for Children; Professor of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.; Hoyme HE; Medical Director, Sanford Children's Genomic Medicine Consortium, Senior Advisor, Sanford Imagenetics, Sanford Health, Emeritus Professor and Past Chair, Department of Pediatrics, University of South Dakota Sanford School of Medicine, Sioux Falls, South Dakota, USA.; Adjunct Professor and Medical Director, Genetic Counseling Graduate Program, Augustana University, Sioux Falls, South Dakota, USA.; Extraordinary Professor of Psychiatry, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.; Hunter A; Emeritus Clinical Geneticist, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Innis J; Staff Physician, Pediatric Genetics, Golisano Children's Hospital of Southwest Florida, Fort Myers, Florida, USA.; Professor Emeritus of Human Genetics, Pediatrics and Internal Medicine, University of Michigan, Ann Arbor, Michigan, USA.; Johnson J; Emeritus Clinical Geneticist, Department of Medical Genetics, Shodair Hospital, Helena, Montana, USA.; Keppler-Noreuil KM; Professor of Pediatrics Division of Genetics & Metabolism, Program Director, Medical Genetics & Genomics Residency Training Program, Co-Director of the UW NORD Center of Excellence for Rare Diseases, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.; Leroy JG; Professor Emeritus, Ghent University School of Medicine, Ghent, Belgium.; Moore C; National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control, Atlanta, Georgia, USA.; Nelson DL; Department of Molecular and Human Genetics, Jan and Dan Duncan Neurological Research Institute, Baylor College of Medicine, Houston, Texas, USA.; Neri G; Institute of Genomic Medicine, Catholic University School of Medicine, Rome, Italy.; Opitz JM; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA.; Picketts D; Senior Scientist, Ottawa Hospital Research Institute, Ottawa, Ontario, Canada.; Professor, Departments of Medicine, Cellular and Molecular Medicine, University of Ottawa, Ottawa, Ontario, Canada.; Raymond FL; Department of Medical Genetics, University of Cambridge, Cambridge, England.; Shalev SA; The Genetics Institute, Emek Medical Center, Afula, Israel.; Rappaport Faculty of Medicine, Technion, Haifa, Israel.; Stevenson RE; Equanimitas, Greenwood, South Carolina, USA.; Stumpel CTRM; Emeritus Professor of Clinical Genetics, Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands.; Sutherland G; Emeritus Geneticist, Women's and Children's Hospital, Adelaide, South Australia, Australia.; Emeritus Professor, University of Adelaide, Adelaide, South Australia, Australia.; Viskochil DH; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA.; Weaver DD; Professor Emeritus of Medical and Molecular Genetics, Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.; Zackai EH; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Roof E; Vanderbilt University, Nashville, TN 37240, USA.; Deal CL; Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine Centre de Recherche, Montréal, Québec H3T 1C5, Canada.; McCandless SE; Department of Pediatrics, Section of Genetics and Metabolism, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO 80309, USA.; Cowan RL; Department of Psychiatry, The University of Tennessee Health Science Center College of Medicine, Memphis, TN 37996, USA.; Miller JL; Department of Pediatrics, University of Florida College of Medicine, Gainesville, FL 32611, USA.; Hamilton JK; Division of Endocrinology, The Hospital for Sick Children, Toronto M5G 1X8, Canada.; Department of Pediatrics, University of Toronto, Toronto M5G 1X8, Canada.; Roeder ER; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX 78207, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; McCormack SE; Neuroendocrine Center, The Children's Hospital of Philadelphia Division of Endocrinology and Diabetes, Philadelphia, PA 19104, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.; Roshan Lal TR; Genetics and Metabolism, Children's National Hospital, Washington, DC 20010, USA.; Abdul-Latif HD; Division of Pediatric Endocrinology and Diabetes, Children's of Alabama, Birmingham, AL 35233, USA.; Haqq AM; Department of Pediatrics, University of Alberta, Edmonton, Alberta T6G 2R3, Canada.; Obrynba KS; Division of Endocrinology and Diabetes, Nationwide Children's Hospital, Columbus, OH 43205, USA.; Department of Pediatrics, The Ohio State University, Columbus, OH 43205, USA.; Torchen LC; Division of Endocrinology, Ann and Robert H. Lurie Children's Hospital of Chicago, Feinberg School of Medicine, Northwestern University, Chicago, IL 60208, USA.; Vidmar AP; Diabetes & Obesity Program, Center for Endocrinology, Diabetes and Metabolism, Children's Hospital Los Angeles Department of Pediatrics, Los Angeles, CA 90027, USA.; Keck School of Medicine of USC, Los Angeles, CA 90033, USA.; Viskochil DH; Department of Pediatrics, Division of Medical Genetics, The University of Utah School of Medicine, Salt Lake City, UT 84112, USA.; Shriners Hospital for Children, Salt Lake City, UT 84112, USA.; Chanoine JP; Department of Pediatrics, Endocrinology and Diabetes Unit, The University of British Columbia, Vancouver V6H 3V4, Canada.; Lam CKL; Department of Pediatrics, Endocrinology and Diabetes Unit, The University of British Columbia, Vancouver V6H 3V4, Canada.; Pierce MJ; Diabetes & Endocrinology, Children's Minnesota-St Paul, St Paul, MN 55404, USA.; Williams LL; Menninger Department of Psychiatry & Behavioral Sciences, Baylor College of Medicine, Houston, TX 77030, USA.; Bird LM; Department of Pediatrics, University of California San Diego, San Diego, CA 92037, USA.; Rady Children's Hospital, San Diego, CA 92123, USA.; Butler MG; Department of Psychiatry & Behavioral Sciences, University of Kansas Medical Center, Kansas City, KS 66160, USA.; Jensen DE; Children's Health Queensland Hospital and Health Services, South Brisbane, Queensland 4101, Australia.; Centre for Children's Health Research, University of Queensland, Brisbane, Queensland 4101, Australia.; Myers SE; Department of Pediatrics, Saint Louis University School of Medicine, Cardinal Glennon Children's Hospital, Saint Louis, MO 63104, USA.; Oatman OJ; Division of Endocrinology and Diabetes, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Baskaran C; Division of Endocrinology, Boston Children's Hospital, Boston, MA 02115, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA.; Chalmers LJ; Department of Pediatrics, The University of Oklahoma School of Community Medicine, Tulsa, OK 73117, USA.; Fu C; Vanderbilt University, Nashville, TN 37240, USA.; Alos N; Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine Centre de Recherche, Montréal, Québec H3T 1C5, Canada.; McLean SD; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX 78207, USA.; Shah A; Menninger Department of Psychiatry & Behavioral Sciences, Baylor College of Medicine, Houston, TX 77030, USA.; Whitman BY; Department of Pediatrics, Saint Louis University School of Medicine, Cardinal Glennon Children's Hospital, Saint Louis, MO 63104, USA.; Blumenstein BA; Trial Architecture Consulting, Chevy Chase, MD 20814, USA.; Leonard SF; Levo Therapeutics, Inc., Skokie, IL 60077, USA.; Ernest JP; Levo Therapeutics, Inc., Skokie, IL 60077, USA.; Cormier JW; Levo Therapeutics, Inc., Skokie, IL 60077, USA.; Cotter SP; Levo Therapeutics, Inc., Skokie, IL 60077, USA.; Ryman DC; Levo Therapeutics, Inc., Skokie, IL 60077, USA.

Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE

Cantagrel V; Silhavy JL; Bielas S; Swistun D; Marsh SE; Bertrand J; Audollent S; Attié Bitach T; Holden KR; Dobyns WB; Traver D; Al Gazali L; Ali BR; Lindner TH; Caspary T; Otto EA; Hildebrandt F; Glass IA; Logan CV; Johnson CA; Bennett C; Brancati F; Grattan Smith P; Leventer J; Van Coster R; Dias K; Moco C; Moreira; Ae Kim C; AKiss A; Maegawa G; Abdel Salam GMH; Abdel Aleem A; Zaki MS; Marti I; Quijano Roy S; de Lonlay P; A. Verloes A; Touraine R; Koenig M; Lagier Tourenne C; Messer J; Philippi H; Tzeli SK; Halldorsson S; Johannsdottir J; Ludvigsson P; Magee A; Stuart B; Lev D; Michelson M; Ben Zeev B; Fischetto R; Gentile M; Battaglia; Giordano L; Boccone L; Ruggieri M; Bigoni S; Ferlini A; Donati MA; Procopio E; Lapi E; Genuardi M; Caridi G; Faravelli F; Ghiggeri G; BRIUGLIA, Silvana; TORTORELLA, Gaetano; RIGOLI, Luciana Concetta; SALPIETRO DAMIANO, Carmelo; D’Arrigo S; Pantaleoni C; Riva D; Uziel G; Laverda AM; Permunian A; Bova S; Fazz Ei; Sabrina S; Battini R; Bertini E; Dallapiccola B; Cilio MR; Di Sabato M; Emma F; Leuzzi V; Parisi P; Simonati A; Al Tawari AA; Bastaki L; Ahmad Aqueel A; Jong MM; Koul R; Rajab A; Sztriha L; Azam M; Barbot C; Rodriguez B; Pascual Castroviejo I; Eugen Boltshauser E; Hulya H; Comu S; Akcakus M; Sahin Y; Phadke SR; Melick N; Mikati M; Nicholl D; Hurst J; Hennekam RCM; Bernes S; Sanchez H; Clark AE; Wynshaw Boris A; Donahue C; Sherr EH; Barkovich AJ; Hahn D.; Sanger TD; Gallager TE; Daugherty C; Krishnamoorthy KS; Sarco D; Walsh CA, Soul; JMcKanna T; Joanne Milisa J; Chung WK; De Vivo DC; Raynes H; Schubert R; Seward A; Brooks DG; Amy Goldstein A; Caldwell J; Finsecke E; Maria BL; Cruse RP; LotzeTE; Swoboda KJ; Viskochil DH; Valente EM; Woods CG; Gleeson JG

The American Journal of Human Genetics. 83:170-179

Ullrich NJ; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.; Dana-Farber/Boston Children's Cancer and Blood Disorder Center, Boston, Massachusetts.; Prabhu SP; Department of Radiology, Boston Children's Hospital, Boston, Massachusetts.; Packer RJ; Center for Neuroscience and Behavioral Medicine, Children's National Hospital, Washington, District of Columbia.; Goldman S; Ann and Robert Lurie Children's Hospital, Chicago, Illinois.; Robison NJ; Children's Center for Cancer and Blood Diseases, Children's Hospital Los Angeles, Los Angeles, California.; Allen JC; Departments of Pediatrics and Neurology, NYU Langone Medical Center, New York, New York.; Viskochil DH; Department of Genetics, University of Utah, Salt Lake City, Utah.; Gutmann DH; Department of Neurology, Washington University School of Medicine, St Louis, Missouri.; Perentesis JP; Division of Oncology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.; Korf BR; Department of Medical Genetics, University of Alabama at Birmingham, Birmingham, Alabama.; Fisher MJ; Division of Oncology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Kieran MW; Dana-Farber/Boston Children's Cancer and Blood Disorder Center, Boston, Massachusetts.

Publisher: John Wiley Country of Publication: United States NLM ID: 101186624 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1545-5017 (Electronic) Linking ISSN: 15455009 NLM ISO Abbreviation: Pediatr Blood Cancer Subsets: MEDLINE

Brockmeyer DL; 1Division of Pediatric Neurosurgery, Department of Neurosurgery, University of Utah, Salt Lake City, Utah.; 2Intermountain Healthcare, Salt Lake City, Utah.; Cheshier SH; 1Division of Pediatric Neurosurgery, Department of Neurosurgery, University of Utah, Salt Lake City, Utah.; 2Intermountain Healthcare, Salt Lake City, Utah.; 3Huntsman Cancer Institute, Salt Lake City, Utah.; Stevens J; 4Genetic Epidemiology, Department of Internal Medicine, University of Utah, Salt Lake City, Utah.; Facelli JC; Departments of5Biomedical Informatics and.; Rowe K; 2Intermountain Healthcare, Salt Lake City, Utah.; Heiss JD; 6Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland; and.; Musolf A; 7Statistical Genetics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.; Viskochil DH; 2Intermountain Healthcare, Salt Lake City, Utah.; 8Pediatrics, University of Utah, Salt Lake City, Utah.; Allen-Brady KL; 4Genetic Epidemiology, Department of Internal Medicine, University of Utah, Salt Lake City, Utah.; Cannon-Albright LA; 3Huntsman Cancer Institute, Salt Lake City, Utah.; 4Genetic Epidemiology, Department of Internal Medicine, University of Utah, Salt Lake City, Utah.

Publisher: American Association of Neurological Surgeons Country of Publication: United States NLM ID: 0253357 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 1933-0693 (Electronic) Linking ISSN: 00223085 NLM ISO Abbreviation: J Neurosurg Subsets: MEDLINE

Stevenson, DA; Viskochil, DH; Rope, AF; Carey, JC

Clinical Genetics. March, 2006, Vol. 69 Issue 3, p246, 8 p.

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

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.; 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.; 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, USA.; Lord J; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, 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.; Martin-Geary AC; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, 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.; 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, 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.; 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, VIC, Australia.; Bakshi M; Department of Clinical Genetics, Liverpool Hospital, Sydney, NSW, 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.; Brown NJ; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, 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.; Compton AG; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Cunningham CA; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; D'Souza P; Undiagnosed Disesases Program, National Human Genome Research Institute, Bethesda, MD, USA.; Délot EC; Center for Genetic Medicine Research, Children's National Research Institute, Washington, DC, USA.; Dias KR; Neuroscience Research Australia, Sydney, NSW, Australia.; Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW, 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.; Evans CA; Neuroscience Research Australia, Sydney, NSW, Australia.; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia.; Ewans L; Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia.; Centre for Clinical Genetics, Sydney Children's Hospitals Network, Randwick, NSW, Australia.; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.; Ezell K; Division of Medical Genetics & 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, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, 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.; 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.; Kuechler A; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; 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, VIC, Australia.; Leventer RJ; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Royal Children's Hospital, Melbourne, VIC, Australia.; Liebelt JE; Paediatric and Reproductive Genetics Unit, South Australian Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, SA, Australia.; Repromed, Dulwich, SA, Australia.; Lockhart PJ; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Bruce Lefroy Centre, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Ma AS; Department of Clinical Genetics, Sydney Children's Hospitals Network Westmead, Sydney, NSW, Australia.; Specialty of Genomic Medicine, University of Sydney, Sydney, NSW, Australia.; Macnamara EF; Undiagnosed Disesases Program, National Human Genome Research Institute, Bethesda, MD, USA.; 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.; 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.; Nassogne MC; Service de Neurologie Pédiatrique, Cliniques Universitaires Saint-Luc, UCLouvain, B-1200, Brussels, Belgium.; Institut des Maladies Rares, Cliniques Universitaires Saint-Luc, UCLouvain, B-1200, Brussels, Belgium.; Neumann S; Division of Medical Genetics & Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; 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, NSW, Australia.; Centre for Clinical Genetics, Sydney Children's Hospitals Network, Randwick, NSW, Australia.; Phillips J; Division of Medical Genetics & Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Pitsava G; Institute for Clinical and Translational Research, University of California, Irvine, CA, USA.; Pysar R; Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia.; Centre for Clinical Genetics, Sydney Children's Hospitals Network, Randwick, NSW, Australia.; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, NSW, 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, VIC, 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, NSW, Australia.; Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW, Australia.; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, 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, NSW, Australia.; Centre for Clinical Genetics, Sydney Children's Hospitals Network, Randwick, NSW, Australia.; 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, Bucks, UK.; Snell P; Bruce Lefroy Centre, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Clair L; Department of Clinical Genetics, Sydney Children's Hospitals Network Westmead, Sydney, NSW, Australia.; Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Tan NB; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Temple SE; Department of Clinical Genetics, Liverpool Hospital, Sydney, NSW, Australia.; School of Women's and Childrens's Health, University of New South Wales, Sydney, NSW, Australia.; Thorburn DR; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Tifft CJ; Undiagnosed Disesases Program, National Human Genome Research Institute, Bethesda, MD, USA.; Uebergang E; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; VanNoy GE; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Vilain E; Institute for Clinical and Translational Science, University of California, 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, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, 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.; Xiao C; Department of Neurology, University of California, Irvine, CA, USA.; Zocche D; North West Thames Regional Genetics Service, Northwick Park & St Mark's Hospitals, London, UK.; Rubenstein JL; Department of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California, San Francisco, USA.; Markenscoff-Papadimitriou E; Department of Psychiatry, Langley Porter Psychiatric Institute, UCSF Weill Institute for Neurosciences, University of California, San Francisco, 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 National Health Service (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 JM; 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, 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.; Centre for Human Genetics, University of Oxford, Oxford, UK.; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Ullrich NJ; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.; Dana-Farber/Boston Children's Cancer and Blood Disorders, Dana-Farber Cancer Institution, Boston, Massachusetts.; Prabhu SP; Departments of Radiology, Boston Children's Hospital, Boston, Massachusetts.; Reddy AT; Department of Neurology, School of Medicine, University of California San Francisco, San Francisco, California.; Fisher MJ; Division of Oncology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Packer R; Center for Neuroscience and Behavioral Medicine, Children's National Health System, Washington, DC.; Goldman S; Ann and Robert Lurie Children's Hospital, Chicago, Illinois.; Robison NJ; Children's Center for Cancer and Blood Diseases, Children's Hospital Los Angeles, University of Southern California Keck School of Medicine, Los Angeles, California.; Gutmann DH; Department of Neurology, Washington University School of Medicine, St Louis, Missouri.; Viskochil DH; Department of Genetics, University of Utah, Salt Lake City, Utah.; Allen JC; Departments of Pediatrics and Neurology, NYU Cancer Institute, NYU Langone Medical Center, New York, New York.; Korf B; Department of Genetics, University of Utah, Salt Lake City, Utah.; Department of Medical Genetics, University of Alabama, Birmingham, Alabama.; Cantor A; Department of Preventative Medicine, University of Alabama, Birmingham, Alabama.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio.; Cutter G; School of Public Health, University of Alabama, Birmingham, Alabama.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio.; Thomas C; School of Public Health, University of Alabama, Birmingham, Alabama.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio.; Perentesis JP; Division of Oncology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio.; Mizuno T; Division of Clinical Pharmacology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio.; Vinks AA; Division of Clinical Pharmacology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio.; Manley PE; Department of Hematology/Oncology, Boston Children's Hospital, Boston, Massachusetts.; Dana-Farber/Boston Children's Cancer and Blood Disorders, Dana-Farber Cancer Institution, Boston, Massachusetts.; Chi SN; Department of Hematology/Oncology, Boston Children's Hospital, Boston, Massachusetts.; Dana-Farber/Boston Children's Cancer and Blood Disorders, Dana-Farber Cancer Institution, Boston, Massachusetts.; Kieran MW; Department of Hematology/Oncology, Boston Children's Hospital, Boston, Massachusetts.; Dana-Farber/Boston Children's Cancer and Blood Disorders, Dana-Farber Cancer Institution, Boston, Massachusetts.

Publisher: Oxford University Press Country of Publication: England NLM ID: 100887420 Publication Model: Print Cited Medium: Internet ISSN: 1523-5866 (Electronic) Linking ISSN: 15228517 NLM ISO Abbreviation: Neuro Oncol Subsets: MEDLINE

Huson, SM; Acosta, MT; Belzberg, AJ; Bernards, A; Chernoff, J; Cichowski, K; Gareth, Evans D; Ferner, RE; Giovannini, M; Korf, BR; Listernick, R; North, KN; Packer, RJ; Parada, LF; Peltonen, J; Ramesh, V; Reilly, KM; Risner, JW; Schorry, EK; Uphadyaya, M; Viskochil, DH; Zhu, Y; Hunter-Schaedle, K; Giancotti

Brancati F; Barrano G; Silhavy JL; Marsh SE; Travaglini L; Bielas SL; Amorini M; Zablocka D; Kayserili H; Al Gazali L; Bertini E; Boltshauser E; D'Hooghe M; Fazzi E; Fenerci EY; Hennekam RC; Kiss A; Lees MM; Marco E; Phadke SR; Rigoli L; Romano S; Salpietro CD; Sherr EH; Signorini S; Stromme P; Stuart B; Sztriha L; Viskochil DH; Yuksel A; Dallapiccola; [International JSRD Study Group]; Valente EM; Gleeson JG; Smith P; Leventer R; Janecke A; Van Coster R; Dias K; Moco C; Moreira A; Chong AK; Maegawa G; Abdel Salam GMH; Abdel Aleem A; Zaki MS; Martu I; Quijano Roy S; De Lonlay P; Verloes A; Touraine R; Koenig M; Lagier Tourenne C; Messer J; Philippi H; Tzeli SK; Halldorsson S; Johannsdotir J; Ludvigsson P; Magee A; Lev D; Michelson M; Ben Zev B; Fischetto R; Gentile M; Battaglia S; Giordano L; Boccone L; RUGGIERI, MARTINO; Bigoni S; Ferlini A; Donati MA; Procopio E; Cardidi G; Faravelli F; Ghiggeri G; Briuglia S; Tortorella G; D’Arrigo S; Pantaleoni C; Riva D; Uziel G; Lavercla AM; Permunian A; Bova S; Battini R; Cilio MR; Di Sabato M; Emma F; Leuzzi V; Parisi P; Simonati A; Al Tawari AA; Bastaki L; Aqeel A; De Jong MM; Koul R; Rajab A; Azam M; Barbot C; Rodriguez B; Pascual Castroviejo I; Comu S; Akcakus M; Nicholl D; Woods CG; Bennet C; Hurst J; Walsh CA; Bernes S; Sanchez H; Clark AE; Donahue C; Hahn J; Sanger TD; Gallager TE; Dobyns WB; Daugherty C; Krishnamoorthy KS; Sarco D; McKanna T; Milisa J; Chung WK; De Vivo DC; Raynes H; Schubert R; Seward A; Brooks DG; Goldstein A; Caldwell J; Finsecke E; Maria BL; Holden K; Cruse RP; Swoboda KJ

Aylsworth, A; Carey, JC; Korf, B; Marks, J; Pyeritz, RE; Rubenstein, A; Viskochil, D; Gutmann, DH

American Journal of Ophthalmology. 124(5):718-719

Margraf RL; ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, UT, USA.; VanSant-Webb C; ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, UT, USA.; Mao R; ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, UT, USA.; Department of Pathology, School of Medicine, University of Utah, Salt Lake City, UT, USA.; Viskochil DH; Department of Pediatrics, Division of Medical Genetics, School of Medicine, University of Utah, Salt Lake City, UT, USA.; Shriners Hospital for Children, Salt Lake City, UT, USA.; Carey J; Department of Pediatrics, Division of Medical Genetics, School of Medicine, University of Utah, Salt Lake City, UT, USA.; Shriners Hospital for Children, Salt Lake City, UT, USA.; Hanson H; Department of Pediatrics, Division of Medical Genetics, School of Medicine, University of Utah, Salt Lake City, UT, USA.; D'Astous J; Shriners Hospital for Children, Salt Lake City, UT, USA.; Grossmann A; Department of Pathology, School of Medicine, University of Utah, Salt Lake City, UT, USA.; Stevenson DA; Department of Pediatrics, Division of Medical Genetics, Stanford University, 300 Pasteur Dr., H315, Stanford, CA, 94305, USA. dasteven@stanford.edu.

Publisher: Humana Press Country of Publication: United States NLM ID: 9002991 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1559-1166 (Electronic) Linking ISSN: 08958696 NLM ISO Abbreviation: J Mol Neurosci Subsets: MEDLINE

Peckham-Gregory EC; Department of Pediatrics, Section of Hematology-Oncology, Baylor College of Medicine, One Baylor Plaza, MS: BCM305, Houston, TX, 77030, USA.; Texas Children's Cancer Center, Texas Children's Hospital, Feigin Center, 1102 Bates St, Houston, TX, 77030, USA.; Montenegro RE; Department of Psychiatry and Behavioral Medicine, The University of Washington School of Medicine, 4800 Sand Point Way NE, Seattle, WA, 98105, USA.; Stevenson DA; Division of Medical Genetics, Stanford University, 300 Pasteur Drive, Boswell Building A097, Stanford, CA, 94304, USA.; Viskochil DH; Division of Medical Genetics, University of Utah School of Medicine, 295 Chipeta Way, Salt Lake City, UT, 84108, USA.; Scheurer ME; Department of Pediatrics, Section of Hematology-Oncology, Baylor College of Medicine, One Baylor Plaza, MS: BCM305, Houston, TX, 77030, USA.; Texas Children's Cancer Center, Texas Children's Hospital, Feigin Center, 1102 Bates St, Houston, TX, 77030, USA.; Lupo PJ; Department of Pediatrics, Section of Hematology-Oncology, Baylor College of Medicine, One Baylor Plaza, MS: BCM305, Houston, TX, 77030, USA.; Texas Children's Cancer Center, Texas Children's Hospital, Feigin Center, 1102 Bates St, Houston, TX, 77030, USA.; Schiffman JD; Department of Pediatrics and Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, 2000 Circle of Hope, Salt Lake City, UT, 84112, USA. Joshua.Schiffman@hci.utah.edu.

Publisher: Springer Country of Publication: United States NLM ID: 8309335 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-7373 (Electronic) Linking ISSN: 0167594X NLM ISO Abbreviation: J Neurooncol Subsets: MEDLINE

DeMille D; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah.; Carlston CM; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah.; Department of Pathology, University of Utah, Salt Lake City, Utah.; Tam OH; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah.; Palumbos JC; Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah.; Stalker HJ; Division of Pediatric Genetics and Metabolism, University of Florida, Gainesville, Florida.; Mao R; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah.; Department of Pathology, University of Utah, Salt Lake City, Utah.; Zori RT; Division of Pediatric Genetics and Metabolism, University of Florida, Gainesville, Florida.; Viskochil DH; Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah.; Park AH; Division of Otolaryngology - Head and Neck Surgery, University of Utah, Salt Lake City, Utah.; Carey JC; Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Sites ER; Nationwide Children's Hospital, Columbus, Ohio.; Smolarek TA; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.; Martin LJ; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.; Viskochil DH; Divison of Medical Genetics, University of Utah, Salt Lake City, Utah.; Stevenson DA; Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, California.; Ullrich NJ; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.; Messiaen LM; Department of Genetics, University of Alabama, Birmingham, Alabama.; Schorry EK; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Rauen KA; MIND Institute, University of California at Davis, Sacramento, California.; Huson SM; Burkitt-Wright E; Evans DG; Farschtschi S; Ferner RE; Gutmann DH; Hanemann CO; Kerr B; Legius E; Parada LF; Patton M; Peltonen J; Ratner N; Riccardi VM; van der Vaart T; Vikkula M; Viskochil DH; Zenker M; Upadhyaya M

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Stevenson, DA; Schwarz, EL; Carey, JC; Viskochil, DH; Hanson, H; Bauer, S; Cindy Weng, H-Y; Greene, T; Reinker, K; Swensen, J; Chan, RJ; Yang, F-C; Senbanjo, L; Yang, Z; Mao, R; Pasquali, M

Clinical Genetics; Dec2011, Vol. 80 Issue 6, p566-573, 8p, 3 Charts, 3 Graphs

Gripp KW; Division of Medical Genetics, A. I. duPont Hospital for Children, Wilmington, Delaware.; Sol-Church K; Center for Applied Clinical Genomics, A. I. duPont Hospital for Children, Wilmington, Delaware.; Smpokou P; Division of Genetics and Metabolism, Children's National Health System, Washington, District of Columbia.; Graham GE; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Stevenson DA; Division of Medical Genetics, Stanford University, Stanford, California.; Hanson H; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah.; Viskochil DH; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah.; Baker LC; Division of Medical Genetics, A. I. duPont Hospital for Children, Wilmington, Delaware.; Russo B; Center for Applied Clinical Genomics, A. I. duPont Hospital for Children, Wilmington, Delaware.; Gardner N; Center for Applied Clinical Genomics, A. I. duPont Hospital for Children, Wilmington, Delaware.; Stabley DL; Center for Applied Clinical Genomics, A. I. duPont Hospital for Children, Wilmington, Delaware.; Kolbe V; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Rosenberger G; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Tvrdik T; Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah.; Mason D; Dent KM; Thornton L; Hornton SN; Viskochil DH; Stevenson DA

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE