부산대학교 도서관

Rius R; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Population Genomics, Garvan Institute of Medical Research, and UNSW Sydney, Sydney, NSW, Australia; The University of Melbourne, Melbourne, Australia.; Compton AG; The University of Melbourne, Melbourne, Australia; Murdoch Children's Research Institute, Melbourne, Australia; Victorian Clinical Genetics Services, Melbourne, Australia.; Baker NL; The University of Melbourne, Melbourne, Australia; Victorian Clinical Genetics Services, Melbourne, Australia.; Balasubramaniam S; Sydney Children's Hospitals Network, Westmead, Australia; University of Sydney, Sydney, NSW, Australia.; Best S; The University of Melbourne, Melbourne, Australia; Australian Institute of Health Innovation, Macquarie University, Sydney, Australia; Peter MacCallum Cancer Centre, Melbourne, VIC, Australia; Victorian Comprehensive Cancer Centre, Melbourne, VIC, Australia; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Bhattacharya K; Sydney Children's Hospitals Network, Westmead, Australia.; Boggs K; Sydney Children's Hospitals Network, Westmead, Australia.; Boughtwood T; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Braithwaite J; Australian Institute of Health Innovation, Macquarie University, Sydney, Australia.; Bratkovic D; Women's and Children's Hospital, Adelaide, Australia.; Bray A; Sydney Children's Hospitals Network, Westmead, Australia.; Brion MJ; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; QIMR Berghofer Medical Research Institute, Brisbane, Australia.; Burke J; Tasmanian Clinical Genetics Service, Hobart, Australia; The University of Tasmania, Hobart, Australia.; Casauria S; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Chong B; Victorian Clinical Genetics Services, Melbourne, Australia.; Coman D; Queensland Children's Hospital, Brisbane, Australia; Wesley Hospital, Brisbane, Australia; University of Queensland, Brisbane, Australia.; Cowie S; Victorian Clinical Genetics Services, Melbourne, Australia.; Cowley M; Children's Cancer Institute, University of New South Wales, NSW, Australia.; de Silva MG; The University of Melbourne, Melbourne, Australia; Murdoch Children's Research Institute, Melbourne, Australia; Victorian Clinical Genetics Services, Melbourne, Australia.; Delatycki MB; The University of Melbourne, Melbourne, Australia; Victorian Clinical Genetics Services, Melbourne, Australia.; Edwards S; Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia.; Ellaway C; Sydney Children's Hospitals Network, Westmead, Australia; University of Sydney, Sydney Australia.; Fahey MC; Royal Melbourne Hospital, Melbourne, VIC, Australia.; Finlay K; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Fletcher J; Royal Adelaide Hospital, Adelaide, Australia.; Frajman LE; The University of Melbourne, Melbourne, Australia; Murdoch Children's Research Institute, Melbourne, Australia.; Frazier AE; The University of Melbourne, Melbourne, Australia; Murdoch Children's Research Institute, Melbourne, Australia.; Gayevskiy V; Garvan Institute of Medical Research, Sydney, NSW, Australia.; Ghaoui R; Royal Adelaide Hospital, Adelaide, Australia.; Goel H; John Hunter Hospital, Newcastle, Australia.; Goranitis I; The University of Melbourne, Melbourne, Australia; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Haas M; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Hock DH; The University of Melbourne, Melbourne, Australia; Murdoch Children's Research Institute, Melbourne, Australia; Victorian Clinical Genetics Services, Melbourne, Australia; Bio 21 Molecular Science and Biotechnology Institute, Melbourne, Australia.; Howting D; Harry Perkins Institute of Medical Research, Perth, Australia.; Jackson MR; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia.; Kava MP; Perth Children's Hospital, Perth, Australia.; Kemp M; The Australian e-Health Research Centre, CSIRO, Australia.; King-Smith S; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia.; Lake NJ; Murdoch Children's Research Institute, Melbourne, Australia; Yale School of Medicine, New Haven, CT, USA.; Lamont PJ; Perth Children's Hospital, Perth, Australia; Royal Perth Hospital, Perth, Australia.; Lee J; The University of Melbourne, Melbourne, Australia; Victorian Clinical Genetics Services, Melbourne, Australia; Royal Children's Hospital, Melbourne, Australia.; Long JC; Australian Institute of Health Innovation, Macquarie University, Sydney, Australia.; MacShane M; Harry Perkins Institute of Medical Research, Perth, Australia.; Madelli EO; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Martin EM; Sydney Children's Hospitals Network, Westmead, Australia.; Marum JE; Victorian Clinical Genetics Services, Melbourne, Australia; Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.; Mattiske T; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; McGill J; Queensland Children's Hospital, Brisbane, Australia.; Metke A; The Australian e-Health Research Centre, CSIRO, Australia.; Murray S; Mito Foundation, Sydney, Australia.; Panetta J; Royal Melbourne Hospital, Melbourne, Australia.; Phillips LK; Mater Hospital, South Brisbane, Australia.; Quinn MCJ; Australian Genomics, Genetic Health Queensland, Brisbane, Australia.; Ryan MT; Monash University, Melbourne, Australia.; Schenscher S; Women's and Children's Hospital, Adelaide, Australia.; Simons C; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Population Genomics, Garvan Institute of Medical Research, and UNSW Sydney, Sydney, NSW, Australia.; Smith N; Department of Neurology and Clinical Neurophysiology, Women's and Children's Hospital, Adelaide, South Australia, Australia; Discipline of Paediatrics, University of Adelaide, Adelaide, South Australia, Australia.; Stroud DA; The University of Melbourne, Melbourne, Australia; Murdoch Children's Research Institute, Melbourne, Australia; Victorian Clinical Genetics Services, Melbourne, Australia; Bio 21 Molecular Science and Biotechnology Institute, Melbourne, Australia.; Tchan MC; Faculty of Medicine and Health, University of Sydney, Australia; Department of Genetic Medicine, Westmead Hospital, Westmead, Australia.; Tom M; Genetic Health Queensland, Brisbane, Australia.; Wallis M; Tasmanian Clinical Genetics Service, Hobart, Australia; School of Medicine and Menzies Institute for Medical Research, University of Tasmania, Hobart, Australia; Royal Hobart Hospital, Hobart, Australia.; Ware TL; Royal Hobart Hospital, Hobart, Australia.; Welch AE; Murdoch Children's Research Institute, Melbourne, Australia.; Wools C; Royal Melbourne Hospital, Melbourne, Australia.; Wu Y; The University of Melbourne, Melbourne, Australia.; Christodoulou J; The University of Melbourne, Melbourne, Australia; Murdoch Children's Research Institute, Melbourne, Australia; Victorian Clinical Genetics Services, Melbourne, Australia. Electronic address: john.christodoulou@mcri.edu.au.; Thorburn DR; The University of Melbourne, Melbourne, Australia; Murdoch Children's Research Institute, Melbourne, Australia; Victorian Clinical Genetics Services, Melbourne, Australia. Electronic address: david.thorburn@mcri.edu.au.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med 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

Bernhardt I; Paediatric and Adult National Metabolic Service, Te Toka Tumai, Te Whatu Ora Health New Zealand, Auckland, New Zealand. Electronic address: IBernhardt@adhb.govt.nz.; Frajman LE; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, VIC, Australia.; Ryder B; Paediatric and Adult National Metabolic Service, Te Toka Tumai, Te Whatu Ora Health New Zealand, Auckland, New Zealand.; Andersen E; Wellington Regional Hospital, Te Whatu Ora Health New Zealand, Wellington, New Zealand.; Wilson C; Paediatric and Adult National Metabolic Service, Te Toka Tumai, Te Whatu Ora Health New Zealand, Auckland, New Zealand.; McKeown C; Genetic Health Service New Zealand, Central Hub, Te Whatu Ora Health New Zealand, Wellington, New Zealand.; Anderson T; New Zealand Brain Research Institute and Department of Medicine, University of Otago, Christchurch, New Zealand.; Coman D; Queensland Lifespan Metabolic Medicine Service, Queensland Children's Hospital, School of Medicine, University of Queensland, Australia.; Vincent AL; Eye Department, Greenlane Clinical Centre, Te Toka Tumai, Te Whatu Ora Health New Zealand, Auckland, New Zealand; Department of Ophthalmology, New Zealand National Eye Centre, Faculty of Health and Medical Science, University of Auckland, New Zealand.; Buchanan C; Neurology Department, Auckland City Hospital, Te Toka Tumai, Te Whatu Ora Health New Zealand,Auckland, New Zealand.; Roxburgh R; Neurology Department, Auckland City Hospital, Te Toka Tumai, Te Whatu Ora Health New Zealand,Auckland, New Zealand.; Pitt J; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, VIC, Australia; Victorian Clinical Genetics Services, Melbourne, VIC, Australia.; De Hora M; Specialist Chemical Pathology, LabPlus, Auckland City Hospital, Te Toka Tumai, Te Whatu Ora Health New Zealand, Auckland, New Zealand.; Christodoulou J; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, VIC, Australia; Victorian Clinical Genetics Services, Melbourne, VIC, Australia.; Thorburn DR; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, VIC, Australia; Victorian Clinical Genetics Services, Melbourne, VIC, Australia.; Wilson F; Department of Paediatric Radiology, Starship Children's Hospital, Te Toka Tumai, Te Whatu Ora Health New Zealand, Auckland, New Zealand.; Drake KM; Genetics, Canterbury Health Laboratories, Waitaha Canterbury, Te Whatu Ora Health New Zealand, Christchurch, New Zealand.; Leask M; Department of Physiology, School of Biomedical Sciences, University of Otago, New Zealand; Department of Immunology and Rheumatology, School of Medicine, The University of Alabama at Birmingham, Birmingham, AL, USA.; Yardley AM; Eye Department, Capital, Coast and Hutt Valley, Te Whatu Ora Health New Zealand, Wellington, New Zealand.; Merriman T; Department of Immunology and Rheumatology, School of Medicine, The University of Alabama at Birmingham, Birmingham, AL, USA; Department of Microbiology and Immunology, University of Otago, Dunedin, New Zealand.; Robertson S; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, New Zealand.; Compton AG; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, VIC, Australia; Victorian Clinical Genetics Services, Melbourne, VIC, Australia.; Glamuzina E; Paediatric and Adult National Metabolic Service, Te Toka Tumai, Te Whatu Ora Health New Zealand, Auckland, New Zealand.

Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab 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

Baker MJ; Department of Biochemistry and Pharmacology and The Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Australia.; Blau KU; Max Planck Institute for Biology of Ageing , Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases, University of Cologne , Cologne, Germany.; Anderson AJ; Department of Biochemistry and Pharmacology and The Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Australia.; Palmer CS; Department of Biochemistry and Pharmacology and The Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Australia.; Fielden LF; Department of Biochemistry and Pharmacology and The Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Australia.; Crameri JJ; Department of Biochemistry and Pharmacology and The Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Australia.; Milenkovic D; Max Planck Institute for Biology of Ageing , Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases, University of Cologne , Cologne, Germany.; Thorburn DR; Royal Children's Hospital and Department of Paediatrics, Murdoch Children's Research Institute, The University of Melbourne, Parkville, Australia.; Victorian Clinical Genetics Services, Royal Children's Hospital , Parkville, Australia.; Frazier AE; Royal Children's Hospital and Department of Paediatrics, Murdoch Children's Research Institute, The University of Melbourne, Parkville, Australia.; Langer T; Max Planck Institute for Biology of Ageing , Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases, University of Cologne , Cologne, Germany.; Stojanovski D; Department of Biochemistry and Pharmacology and The Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Australia.

Publisher: Rockefeller University Press Country of Publication: United States NLM ID: 0375356 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1540-8140 (Electronic) Linking ISSN: 00219525 NLM ISO Abbreviation: J Cell Biol Subsets: MEDLINE

Missen S; Child Health Service, Whangarei Hospital, Te Whatu Ora - Health New Zealand, Te Tai Tokerau, Whangarei, New Zealand.; Department of Paediatrics: Child and Youth Health, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.; Wilson C; Department of Paediatrics: Child and Youth Health, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.; Adult and Paediatric National Metabolic Service, Te Whatu Ora - Health New Zealand, Te Toka Tumai, Auckland, New Zealand.; Potter H; Canterbury Health Labs, Te Whatu Ora - Health New Zealand, Waitaha Canterbury, Christchurch, New Zealand.; Vincent AL; Greenlane Eye Clinic, Greenlane Clinical Centre, Te Whatu Ora - Health New Zealand, Te Toka Tumai, Auckland, New Zealand.; Department of Ophthalmology, New Zealand National Eye Centre, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.; Murphy R; Auckland Diabetes Centre, Te Whatu Ora - Health New Zealand, Te Toka Tumai, Auckland, New Zealand.; Department of Medicine, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.; Te Mana Ki Tua, Specialist Weight Management Service, Middlemore Hospital, Te Whatu Ora - Health New Zealand, Counties Manukau, Auckland, New Zealand.; Roxburgh R; Department of Neurology, Auckland City Hospital, Te Whatu Ora - Health New Zealand, Te Toka Tumai, Auckland, New Zealand.; Centre for Brain Research, Neurogenetics Clinics, Faculty of Medicine and Health Sciences, University of Auckland, Auckland, New Zealand.; Rodrigues M; Department of Neurology, Auckland City Hospital, Te Whatu Ora - Health New Zealand, Te Toka Tumai, Auckland, New Zealand.; Centre for Brain Research, Neurogenetics Clinics, Faculty of Medicine and Health Sciences, University of Auckland, Auckland, New Zealand.; Poke G; Central Hub, Genetic Health Service New Zealand, Te Whatu Ora - Health New Zealand, Wellington, New Zealand.; Robertson SP; Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.; Thorburn DR; Genomic Medicine Theme, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Glamuzina E; Department of Paediatrics: Child and Youth Health, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.; Adult and Paediatric National Metabolic Service, Te Whatu Ora - Health New Zealand, Te Toka Tumai, Auckland, New Zealand.

Publisher: Blackwell Science Asia Country of Publication: Australia NLM ID: 101092952 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1445-5994 (Electronic) Linking ISSN: 14440903 NLM ISO Abbreviation: Intern Med J Subsets: MEDLINE

Chinnery PF; DiMauro S; Shanske S; Schon EA; Zeviani M; Mariotti C; Carrara F; Lombes A; Laforet P; Ogier H; Jaksch M; Lochmüller H; Horvath R; Deschauer M; Thorburn DR; Bindoff LA; Poulton J; Taylor RW; Matthews JNS; Turnbull DM

Lancet. 8/14/2004, Vol. 364 Issue 9434, p592-596. 5p.

Crameri JJ; Department of Biochemistry and Pharmacology, The University of Melbourne, Parkville, Victoria, Australia.; The Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Victoria, Australia.; Palmer CS; Department of Biochemistry and Pharmacology, The University of Melbourne, Parkville, Victoria, Australia.; The Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Victoria, Australia.; Stait T; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.; Victorian Clinical Genetics Services, Royal Children's Hospital, Parkville, Victoria, Australia.; Jackson TD; Department of Biochemistry and Pharmacology, The University of Melbourne, Parkville, Victoria, Australia.; The Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Victoria, Australia.; Lynch M; Neurosciences Department, Queensland Children's Hospital, South Brisbane, Queensland, Australia.; Department of Metabolic Medicine, Queensland Children's Hospital, South Brisbane, Queensland, Australia.; School of Medicine, University of Queensland, St Lucia, Queensland, Australia.; Sinclair A; Neurosciences Department, Queensland Children's Hospital, South Brisbane, Queensland, Australia.; Frajman LE; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.; Compton AG; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.; Victorian Clinical Genetics Services, Royal Children's Hospital, Parkville, Victoria, Australia.; Department of Paediatrics, The University of Melbourne, Parkville, Victoria, Australia.; Coman D; Department of Metabolic Medicine, Queensland Children's Hospital, South Brisbane, Queensland, Australia.; School of Medicine, University of Queensland, St Lucia, Queensland, Australia.; Thorburn DR; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.; Victorian Clinical Genetics Services, Royal Children's Hospital, Parkville, Victoria, Australia.; Department of Paediatrics, The University of Melbourne, Parkville, Victoria, Australia.; Frazier AE; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.; Department of Paediatrics, The University of Melbourne, Parkville, Victoria, Australia.; Stojanovski D; Department of Biochemistry and Pharmacology, The University of Melbourne, Parkville, Victoria, Australia.; The Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Victoria, Australia.

Publisher: Taylor & Francis Country of Publication: United States NLM ID: 8109087 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-5549 (Electronic) Linking ISSN: 02707306 NLM ISO Abbreviation: Mol Cell Biol Subsets: MEDLINE

Amarasekera SSC; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3010, Australia.; Hock DH; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, VIC 3010, Australia.; Lake NJ; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Genetics, Yale School of Medicine, New Haven, CT 06510 USA.; Calvo SE; Broad Institute, Cambridge, MA 02142, USA.; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Systems Biology, Harvard Medical School, Boston, MA 02446, USA.; Grønborg SW; Department of Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen 2100, Denmark.; Center for Inherited Metabolic Disease, Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen 2100, Denmark.; Krzesinski EI; Monash Genetics, Monash Health, Melbourne, VIC 3168 Australia.; Department of Paediatrics, Monash University, Melbourne, VIC 3168 Australia.; Amor DJ; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3010, Australia.; Fahey MC; Monash Genetics, Monash Health, Melbourne, VIC 3168 Australia.; Department of Paediatrics, Monash University, Melbourne, VIC 3168 Australia.; Simons C; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Wibrand F; Department of Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen 2100, Denmark.; Mootha VK; Broad Institute, Cambridge, MA 02142, USA.; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Systems Biology, Harvard Medical School, Boston, MA 02446, USA.; Lek M; Department of Genetics, Yale School of Medicine, New Haven, CT 06510 USA.; Lunke S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.; Australian Genomics Health Alliance, Melbourne, VIC 3052, Australia.; Department of Pathology, University of Melbourne, Melbourne, VIC 3010, Australia.; Stark Z; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3010, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.; Australian Genomics Health Alliance, Melbourne, VIC 3052, Australia.; Østergaard E; Department of Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen 2100, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen 2200, Denmark.; Christodoulou J; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3010, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.; Australian Genomics Health Alliance, Melbourne, VIC 3052, Australia.; Discipline of Child & Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW 2006, Australia.; Thorburn DR; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3010, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.; Australian Genomics Health Alliance, Melbourne, VIC 3052, Australia.; Stroud DA; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, VIC 3010, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.; Compton AG; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3010, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.

Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Lunke S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Victoria, Australia.; Australian Genomics, Melbourne, Victoria, Australia.; Bouffler SE; Australian Genomics, Melbourne, Victoria, Australia.; Patel CV; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.; Sandaradura SA; Sydney Children's Hospitals Network - Westmead, Sydney, New South Wales, Australia.; Children's Hospital Westmead Clinical School, University of Sydney, Sydney, New South Wales, Australia.; Wilson M; Sydney Children's Hospitals Network - Westmead, Sydney, New South Wales, Australia.; Children's Hospital Westmead Clinical School, University of Sydney, Sydney, New South Wales, Australia.; Pinner J; Sydney Children's Hospitals Network - Randwick, Sydney, New South Wales, Australia.; Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia.; Hunter MF; Monash Genetics, Monash Health, Melbourne, Victoria, Australia.; Department of Paediatrics, Monash University, Melbourne, Victoria, Australia.; Barnett CP; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, North Adelaide, South Australia, Australia.; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.; Wallis M; Tasmanian Clinical Genetics Service, Tasmanian Health Service, Hobart, Tasmania, Australia.; School of Medicine and Menzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia.; Kamien B; Genetic Services of Western Australia, Perth, Western Australia, Australia.; Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Victoria, Australia.; Freckmann ML; Department of Clinical Genetics, The Canberra Hospital, Canberra, Australian Capital Territory, Australia.; Chong B; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Phelan D; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Francis D; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Kassahn KS; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.; Ha T; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, South Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, South Australia, Australia.; Gao S; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; Arts P; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.; Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, South Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, South Australia, Australia.; Jackson MR; Australian Genomics, Melbourne, Victoria, Australia.; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; Scott HS; Australian Genomics, Melbourne, Victoria, Australia.; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.; Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, South Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, South Australia, Australia.; Eggers S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Rowley S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Boggs K; Australian Genomics, Melbourne, Victoria, Australia.; Sydney Children's Hospitals Network - Westmead, Sydney, New South Wales, Australia.; Sydney Children's Hospitals Network - Randwick, Sydney, New South Wales, Australia.; Rakonjac A; Australian Genomics, Melbourne, Victoria, Australia.; Sydney Children's Hospitals Network - Westmead, Sydney, New South Wales, Australia.; Sydney Children's Hospitals Network - Randwick, Sydney, New South Wales, Australia.; Brett GR; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Victoria, Australia.; de Silva MG; 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Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-170X (Electronic) Linking ISSN: 10788956 NLM ISO Abbreviation: Nat Med Subsets: MEDLINE