부산대학교 도서관

Amarasekera, SSC; Hock, DH; Lake, NJ; Calvo, SE; Gronborg, SW; Krzesinski, E; Amor, DJ; Fahey, MC; Simons, C; Wibrand, F; Mootha, VK; Lek, M; Lunke, S; Stark, Z; ostergaard, E; Christodoulou, J; Thorburn, DR; Stroud, DA; Compton, AG

Human Molecular Genetics. 32:2441-2454

Hock DH; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Melbourne, VIC, 3010, Australia. daniella.hock@unimelb.edu.au.; Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia. daniella.hock@unimelb.edu.au.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia. daniella.hock@unimelb.edu.au.; Caruana NJ; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Melbourne, VIC, 3010, Australia.; Institute for Health and Sport (iHeS), Victoria University, Melbourne, VIC, 3011, Australia.; Semcesen LN; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Melbourne, VIC, 3010, Australia.; Lake NJ; Department of Genetics, Yale School of Medicine, New Haven, CT, 06510, USA.; Formosa LE; Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Melbourne, 3800, Australia.; Amarasekera SSC; Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia.; Stait T; Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia.; Tregoning S; Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia.; Frajman LE; Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia.; Bournazos AM; Kids Neuroscience Centre, The Children's Hospital at Westmead, Westmead, NSW, 2145, Australia.; Children's Medical Research Institute, Westmead, NSW, 2145, Australia.; School of Medical Sciences, Faculty of Medicine, University of Sydney, Camperdown, NSW, 2006, Australia.; Robinson DRL; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Melbourne, VIC, 3010, Australia.; Ball M; Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, 3010, Australia.; Department of Metabolic Medicine, Royal Children's Hospital, Melbourne, VIC, 3052, Australia.; Reljic B; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Melbourne, VIC, 3010, Australia.; Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Melbourne, 3800, Australia.; Ryder B; Paediatric and Adult National Metabolic Service, Te Toka Tumai, Te Whatu Ora Health New Zealand, Auckland, New Zealand.; Wallis MJ; Tasmanian Clinical Genetics Service, Tasmanian Health Service, Hobart, TAS, 7001, Australia.; School of Medicine and Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, 7001, Australia.; Vasudevan A; Royal Women's Hospital, Melbourne, VIC, 3052, Australia.; Beck C; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia.; Peters H; Department of Paediatrics, University of Melbourne, Melbourne, VIC, 3010, Australia.; Department of Metabolic Medicine, Royal Children's Hospital, Melbourne, VIC, 3052, Australia.; Lee J; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia.; Department of Metabolic Medicine, Royal Children's Hospital, Melbourne, VIC, 3052, Australia.; Tan NB; Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, 3010, Australia.; Freckmann ML; Department of Clinical Genetics, The Canberra Hospital, Canberra, Australian Capital Territory, Australia.; Karlaftis V; Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, 3010, Australia.; Attard C; Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, 3010, Australia.; Monagle P; Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, 3010, Australia.; Department of Haematology, Royal Children's Hospital, Parkville, VIC, Australia.; Kids Cancer Centre, Sydney Children's Hospital, Randwick, NSW, Australia.; Samarasinghe A; Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia.; Brown R; Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia.; Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Baylor Genetics, Houston, TX, 77021, USA.; Lek M; Department of Genetics, Yale School of Medicine, New Haven, CT, 06510, USA.; McFarland R; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, , Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon Tyne, NE1 4LP, UK.; Taylor RW; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, , Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon Tyne, NE1 4LP, UK.; Ryan MT; Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Melbourne, 3800, Australia.; Cooper ST; Kids Neuroscience Centre, The Children's Hospital at Westmead, Westmead, NSW, 2145, Australia.; Children's Medical Research Institute, Westmead, NSW, 2145, Australia.; School of Medical Sciences, Faculty of Medicine, University of Sydney, Camperdown, NSW, 2006, Australia.; Stark Z; Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, 3010, Australia.; Christodoulou J; Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, 3010, Australia.; Compton AG; Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, 3010, Australia.; Thorburn DR; Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia. david.thorburn@mcri.edu.au.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia. david.thorburn@mcri.edu.au.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, 3010, Australia. david.thorburn@mcri.edu.au.; Stroud DA; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Melbourne, VIC, 3010, Australia. david.stroud@unimelb.edu.au.; Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia. david.stroud@unimelb.edu.au.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia. david.stroud@unimelb.edu.au.

Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE

Bakhshalizadeh S; Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Hock DH; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, Australia.; Siddall NA; Department of Anatomy and Physiology, University of Melbourne, Parkville, Australia.; Kline BL; Murdoch Children's Research Institute, Melbourne, Australia.; Sreenivasan R; Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Bell KM; Department of Bioinformatics, Murdoch Children's Research Institute, Melbourne, Australia.; Casagranda F; Department of Anatomy and Physiology, University of Melbourne, Parkville, Australia.; Kamalanathan S; Department of Endocrinology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, 605006, India.; Sahoo J; Department of Endocrinology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, 605006, India.; Narayanan N; Department of Endocrinology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, 605006, India.; Naik D; Department of Endocrinology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, 605006, India.; Suryadevara V; Department of Endocrinology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, 605006, India.; Compton AG; Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Australia.; Amarasekera SSC; Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Kapoor R; Department of Anatomy and Physiology, University of Melbourne, Parkville, Australia.; Jaillard S; Univ Rennes, CHU Rennes, INSERM, EHESP, IRSET (Institut de Recherche en Santé, Environnement et Travail) - UMR_S 1085, 35000, Rennes, France.; CHU Rennes, Service de Cytogénétique et Biologie Cellulaire, 35033, Rennes, France.; Simpson A; School of Allied Health, College of Science, Health and Engineering, La Trobe University, Bundoora, VIC, Australia.; College of Health and Human Services, Charles Darwin University, Darwin, NT, Australia.; Robevska G; Murdoch Children's Research Institute, Melbourne, Australia.; van den Bergen J; Murdoch Children's Research Institute, Melbourne, Australia.; Pachernegg S; Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Ayers KL; Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Thorburn DR; Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Australia.; Stroud DA; Murdoch Children's Research Institute, Melbourne, Australia.; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, Australia.; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Australia.; Hime GR; Department of Anatomy and Physiology, University of Melbourne, Parkville, Australia. g.hime@unimelb.edu.au.; Sinclair AH; Murdoch Children's Research Institute, Melbourne, Australia. andrew.sinclair@mcri.edu.au.; Department of Paediatrics, University of Melbourne, Melbourne, Australia. andrew.sinclair@mcri.edu.au.; Tucker EJ; Murdoch Children's Research Institute, Melbourne, Australia. elena.tucker@mcri.edu.au.; Department of Paediatrics, University of Melbourne, Melbourne, Australia. elena.tucker@mcri.edu.au.

Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Abeyratne SAE; Amarasekera SSC; Ranaweera LT; Salpadoru TB; Thilakarathne SMNK; Knowles NJ; Wadsworth J; Puvanendiran S; Kothalawala H; Jayathilake BK; Wijithasiri HA; Chandrasena MMPSK; Sooriyapathirana SDSS

Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: PubMed not MEDLINE

Abeyratne SAE; Animal Virus Laboratory, Veterinary Research Institute, Polgolla, Kandy, Sri Lanka.; Postgraduate Institute of Science, University of Peradeniya, Peradeniya, Sri Lanka.; Amarasekera SSC; Department of Molecular Biology and Biotechnology, Faculty of Science, University of Peradeniya, Peradeniya, Sri Lanka.; Ranaweera LT; Department of Molecular Biology and Biotechnology, Faculty of Science, University of Peradeniya, Peradeniya, Sri Lanka.; Salpadoru TB; Department of Molecular Biology and Biotechnology, Faculty of Science, University of Peradeniya, Peradeniya, Sri Lanka.; Thilakarathne SMNK; Department of Molecular Biology and Biotechnology, Faculty of Science, University of Peradeniya, Peradeniya, Sri Lanka.; Knowles NJ; The Pirbright Institute, Pirbright, Woking, Surrey, United Kingdom.; Wadsworth J; The Pirbright Institute, Pirbright, Woking, Surrey, United Kingdom.; Puvanendiran S; Animal Virus Laboratory, Veterinary Research Institute, Polgolla, Kandy, Sri Lanka.; Kothalawala H; Animal Virus Laboratory, Veterinary Research Institute, Polgolla, Kandy, Sri Lanka.; Jayathilake BK; Animal Virus Laboratory, Veterinary Research Institute, Polgolla, Kandy, Sri Lanka.; Wijithasiri HA; Animal Virus Laboratory, Veterinary Research Institute, Polgolla, Kandy, Sri Lanka.; Chandrasena MMPSK; Animal Virus Laboratory, Veterinary Research Institute, Polgolla, Kandy, Sri Lanka.; Sooriyapathirana SDSS; Postgraduate Institute of Science, University of Peradeniya, Peradeniya, Sri Lanka.; Department of Molecular Biology and Biotechnology, Faculty of Science, University of Peradeniya, Peradeniya, Sri Lanka.

Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

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.

Publisher: Cell Press Country of Publication: United States NLM ID: 101769215 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-6340 (Electronic) Linking ISSN: 26666340 NLM ISO Abbreviation: Med