| Authors: |
Frazier AE; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.; These authors contributed equally: A.E. Frazier, A.G. Compton., Compton AG; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.; These authors contributed equally: A.E. Frazier, A.G. Compton., Kishita Y; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Tokyo, 113-8421, Japan., Hock DH; Department of Biochemistry and Molecular Biology and Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Melbourne, VIC 3052, Australia., Welch AE; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia., Amarasekera SSC; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia., Rius R; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia., Formosa LE; Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Melbourne, VIC 3800, Australia., Imai-Okazaki A; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Tokyo, 113-8421, Japan.; Division of Genomic Medicine Research, Medical Genomics Center, National Center for Global Health and Medicine, Tokyo 162-8655, Japan., Francis D; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia., Wang M; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia., Lake NJ; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.; Department of Genetics, Yale School of Medicine, New Haven, CT 06510, USA., Tregoning S; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia., Jabbari JS; Australian Genome Research Facility Ltd, Victorian Comprehensive Cancer Centre, Melbourne VIC 3052, Australia., Lucattini A; Australian Genome Research Facility Ltd, Victorian Comprehensive Cancer Centre, Melbourne VIC 3052, Australia., Nitta KR; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Tokyo, 113-8421, Japan., Ohtake A; Department of Pediatrics & Clinical Genomics, Saitama Medical University Hospital, Saitama, 350-0495, Japan., Murayama K; Department of Metabolism, Chiba Children's Hospital, Chiba, 266-0007, Japan., Amor DJ; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia., McGillivray G; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia., Wong FY; Ritchie Centre, Hudson Institute of Medical Research; Department of Paediatrics, Monash University; and Monash Newborn, Monash Children's Hospital, Melbourne, VIC 3168, Australia., van der Knaap MS; Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit and Amsterdam Neuroscience, 1081 HV Amsterdam, The Netherlands.; Functional Genomics, Center for Neurogenomics and Cognitive Research, Vrije Universiteit and Amsterdam Neuroscience, 1081 HV Amsterdam, The Netherlands., Jeroen Vermeulen R; Department of Neurology, Maastricht University Medical Center, 6229 HX, Maastricht, The Netherlands., Wiltshire EJ; Department of Paediatrics and Child Health, University of Otago Wellington and Capital and Coast District Health Board, Wellington 6021, New Zealand., Fletcher JM; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia., Lewis B; Department of Clinical Biochemistry, PathWest Laboratory Medicine Western Australia, Nedlands, WA 6009, Australia., Baynam G; Western Australian Register of Developmental Anomalies and Genetic Services of Western Australia and King Edward Memorial Hospital for Women Perth, Subiaco, WA 6008, Australia.; Telethon Kids Institute and School of Paediatrics and Child Health, The University of Western Australia, Perth, WA 6009, Australia., Ellaway C; Genetic Metabolic Disorders Service, Sydney Children's Hospital Network, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.; Disciplines of Genomic Medicine and Child and Adolescent Health, Sydney Medical School, University of Sydney, NSW 2145, Australia., Balasubramaniam S; Genetic Metabolic Disorders Service, Sydney Children's Hospital Network, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia., Bhattacharya K; Genetic Metabolic Disorders Service, Sydney Children's Hospital Network, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.; Disciplines of Genomic Medicine and Child and Adolescent Health, Sydney Medical School, University of Sydney, NSW 2145, Australia., Freckmann ML; Clinical Genetics, The Canberra Hospital, Garran, ACT 2605, Australia., Arbuckle S; Department of Histopathology, The Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW 2145, Australia., Rodriguez M; Discipline of Pathology, School of Medical Sciences, The University of Sydney, Sydney, NSW 2006, Australia., Taft RJ; Illumina, Inc., San Diego, CA 92121, USA., Sadedin S; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia., Cowley MJ; Children's Cancer Institute, Kensington, NSW 2750, Australia; St Vincent's Clinical School, UNSW Sydney, Darlinghurst, NSW 2010, Australia.; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia., Minoche AE; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia., Calvo SE; Broad Institute, Cambridge, MA 02142, USA; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA; Harvard Medical School, Boston, MA 02446, USA., Mootha VK; Broad Institute, Cambridge, MA 02142, USA; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA; Harvard Medical School, Boston, MA 02446, USA., Ryan MT; Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Melbourne, VIC 3800, Australia., Okazaki Y; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Tokyo, 113-8421, Japan., Stroud DA; Department of Biochemistry and Molecular Biology and Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Melbourne, VIC 3052, Australia., Simons C; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD 4072 Australia., Christodoulou J; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Disciplines of Genomic Medicine and Child and Adolescent Health, Sydney Medical School, University of Sydney, NSW 2145, Australia., Thorburn DR; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Lead contact. |
