부산대학교 도서관

Ng, Yi Shiau ; Bindoff, Laurence A ; Gorman, Gráinne S ; Klopstock, Thomas ; Kornblum, Cornelia ; Mancuso, Michelangelo ; McFarland, Robert ; Sue, Carolyn M ; Suomalainen, Anu ; Taylor, Robert W ; Thorburn, David R ; Turnbull, Doug M

In The Lancet Neurology July 2021 20(7):573-584

Newson AJ; Sydney Health Ethics, Sydney School of Public Health, Faculty of Medicine and Health, The University of Sydney, Level 1, Edward Ford Building A27, Sydney, NSW, 2006, Australia. ainsley.newson@sydney.edu.au.; Williams J; Sydney Health Ethics, Sydney School of Public Health, Faculty of Medicine and Health, The University of Sydney, Level 1, Edward Ford Building A27, Sydney, NSW, 2006, Australia.; Australian Centre for Health Engagement, Evidence and Values, University of Wollongong, Wollongong, NSW, Australia.; Fuscaldo G; Monash Bioethics Centre, Monash University, Clayton, VIC, Australia.; Hill A; Sydney, NSW, Australia.; Kneebone E; Monash Bioethics Centre, Monash University, Clayton, VIC, Australia.; Ludlow K; Faculty of Law, Monash University, Clayton, VIC, Australia.; Mills C; Monash Bioethics Centre, Monash University, Clayton, VIC, Australia.; Munsie M; Department of Medicine, The University of Melbourne, Parkville, VIC, Australia.; Murdoch Children's Research Institute, Parkville, VIC, Australia.; Norris S; Leeder Centre for Health Policy, Economics and Data, Sydney School of Public Health, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia.; Scuffham P; Centre for Applied Health Economics, Menzies Health Institute Queensland, Griffith University, Gold Coast, QLD, Australia.; Sutton L; Monash Bioethics Centre, Monash University, Clayton, VIC, Australia.; Thorburn DR; Murdoch Children's Research Institute, Parkville, VIC, Australia.; Department of Paediatrics, The University of Melbourne, Parkville, VIC, Australia.; Victorian Clinical Genetics Service, Parkville, VIC, Australia.; Degeling C; Australian Centre for Health Engagement, Evidence and Values, University of Wollongong, Wollongong, NSW, Australia.

Publisher: BioMed Central Country of Publication: England NLM ID: 101088680 Publication Model: Electronic Cited Medium: Internet ISSN: 1472-6939 (Electronic) Linking ISSN: 14726939 NLM ISO Abbreviation: BMC Med Ethics Subsets: MEDLINE

Chinnery, Patrick F ; DiMauro, Salvatore ; Shanske, Sara ; Schon, Eric A ; Zeviani, Massimo ; Mariotti, Caterina ; Carrara, Fanco ; Lombes, Anne ; Laforet, Pascal ; Ogier, Heléne ; Jaksch, Michaela ; Lochmüller, Hanns ; Horvath, Rita ; Deschauer, Marcus ; Thorburn, David R ; Bindoff, Laurence A ; Poulton, Joanna ; Taylor, Robert W ; Matthews, John NS ; Turnbull, Douglass M

In The Lancet 14-20 August 2004 364(9434):592-596

Low YC; Murdoch Children's Research Institute, Parkville, Victoria, Australia; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.; McKnight CL; Murdoch Children's Research Institute, Parkville, Victoria, Australia; Department of Paediatrics, 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.; Thorburn DR; Murdoch Children's Research Institute, Parkville, Victoria, Australia; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Victorian Clinical Genetics Services, Royal Children's Hospital, Parkville, Victoria, Australia. Electronic address: david.thorburn@mcri.edu.au.; Frazier AE; Murdoch Children's Research Institute, Parkville, Victoria, Australia; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia. Electronic address: ann.frazier@mcri.edu.au.

Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: MEDLINE

Zhao T; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, VIC, Australia.; Hock DH; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC, Australia.; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, VIC, Australia.; Department of Biochemistry & Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Melbourne, VIC, Australia.; Pitt J; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC, Australia.; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, VIC, Australia.; Thorburn DR; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, VIC, Australia.; Stroud DA; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC, Australia. david.stroud@unimelb.edu.au.; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, VIC, Australia. david.stroud@unimelb.edu.au.; Department of Biochemistry & Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Melbourne, VIC, Australia. david.stroud@unimelb.edu.au.; Christodoulou J; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC, Australia. john.christodoulou@mcri.edu.au.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia. john.christodoulou@mcri.edu.au.; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, VIC, Australia. john.christodoulou@mcri.edu.au.

Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

Setterfield, Karen ; Williams, Andrew J ; Donald, Jennifer ; Thorburn, David R ; Kirby, Denise M ; Trounce, Ian ; Christodoulou, John

In Mitochondrion 2002 1(5):437-445

Carr, Andrew ; Morey, Adrienne ; Mallon, Patrick ; Williams, David ; Thorburn, David R

In The Lancet 2001 357(9266):1412-1414

Amarasekera, Sumudu S C; Hock, Daniella H; Lake, Nicole J; Calvo, Sarah E; Grønborg, Sabine W; Krzesinski, Emma I; Amor, David J; Fahey, Michael C; Simons, Cas; Wibrand, Flemming; Mootha, Vamsi K; Lek, Monkol; Lunke, Sebastian; Stark, Zornitza; Østergaard, Elsebet; Christodoulou, John; Thorburn, David R; Stroud, David A; Compton, Alison G

Human Molecular Genetics; Aug2023, Vol. 32 Issue 15, p2441-2454, 14p

Zhao T; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Victoria, Australia.; Allan K; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Victoria, Australia.; Taylor J; Genetic Health Service NZ (Northern Hub), Auckland, New Zealand.; Thorburn DR; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Victoria, Australia.; White SM; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Victoria, Australia.; Tan TY; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Victoria, Australia.; Christodoulou J; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Victoria, Australia.; Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.; Tan NB; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Victoria, Australia.; Stroud DA; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Victoria, Australia.; Department of Biochemistry & Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Melbourne, Victoria, Australia.

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

Kugapreethan R; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, VIC, Australia.; Elahee Doomun SN; Metabolomics Australia, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, VIC, Australia.; Sacharz J; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, VIC, Australia.; Frazier AE; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia.; Department of Paediatrics, University of Melbourne, Parkville, VIC, Australia.; Sharma T; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, VIC, Australia.; Low YC; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia.; Department of Paediatrics, University of Melbourne, Parkville, VIC, Australia.; Nie S; Melbourne Mass Spectrometry and Proteomics Facility (MMSPF), Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, VIC, Australia.; Leeming MG; Melbourne Mass Spectrometry and Proteomics Facility (MMSPF), Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, VIC, Australia.; Muellner-Wong L; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, VIC, Australia.; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia.; Last K; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, VIC, Australia.; Stait T; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia.; De Souza DP; Metabolomics Australia, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, VIC, Australia.; Thorburn DR; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia.; Department of Paediatrics, University of Melbourne, Parkville, VIC, Australia.; Victorian Clinical Genetics Services, Royal Children's Hospital, Parkville, VIC, Australia.; McConville MJ; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, VIC, Australia.; Metabolomics Australia, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, VIC, Australia.; Stroud DA; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, VIC, Australia.; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia.; Melbourne Mass Spectrometry and Proteomics Facility (MMSPF), Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, VIC, Australia.

Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101653440 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2375-2548 (Electronic) Linking ISSN: 23752548 NLM ISO Abbreviation: Sci Adv Subsets: MEDLINE

Stenton SL; 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.; Laricchia K; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Lake NJ; Department of Genetics, Yale School of Medicine, New Haven, CT, USA.; Chaluvadi S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Ganesh V; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; DiTroia S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Osei-Owusu I; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Pais L; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; O'Heir E; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Austin-Tse C; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; O'Leary M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Abu Shanap M; Hematology/Oncology, Bone Marrow Transplantation and Cellular Therapy, Pediatric Department, King Hussein Cancer Centre (KHCC), Amman, Jordan.; Barrows C; Department of Neurosciences, University of California, San Diego, San Diego, CA, USA; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.; Berger S; Children's National Research Institute, Washington, DC, USA.; Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Bujakowska KM; Ocular Genomics Institute, Massachusetts Eye and Ear, Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.; Campagna DR; Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Compton AG; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Flemington Road, Melbourne, Victoria, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Fleming MD; Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Gallacher L; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Flemington Road, Melbourne, Victoria, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Gleeson JG; Department of Neurosciences, University of California, San Diego, San Diego, CA, USA; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.; Haliloglu G; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Pierce EA; Ocular Genomics Institute, Massachusetts Eye and Ear, Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.; Place EM; Ocular Genomics Institute, Massachusetts Eye and Ear, Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.; Sankaran VG; Division of Hematology/Oncology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02215, USA; Howard Hughes Medical Institute, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Shimamura A; Division of Hematology/Oncology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02215, USA.; Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Flemington Road, Melbourne, Victoria, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Flemington Road, Melbourne, Victoria, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Thorburn DR; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Flemington Road, Melbourne, Victoria, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; White SM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Flemington Road, Melbourne, Victoria, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12311, Egypt.; Vilain E; Institute for Clinical and Translational Science, University of California, Irvine, Irvine, CA, USA.; Lek M; Department of Genetics, Yale School of Medicine, New Haven, CT, USA.; Rehm HL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; O'Donnell-Luria A; 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, Boston, MA, USA. Electronic address: odonnell@broadinstitute.org.

Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE

Ball M; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Royal Children's Hospital, Melbourne, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; van Bergen NJ; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Compton AG; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Thorburn DR; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Rahman S; Metabolic Unit, Great Ormond Street Hospital, London, UK.; Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, UK.; Christodoulou J; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.

Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis 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

Hakonen, Anna H; Davidzon, Guido; Salemi, Renato; Bindoff, Laurence A; Van Goethem, Gert; DiMauro, Salvatore; Thorburn, David R; Suomalainen, Anu

European Journal of Human Genetics. Jul2007, Vol. 15 Issue 7, p779-783. 5p. 1 Chart.

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

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

Welland MJ; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, 384 Victoria Street, Sydney, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Australia.; Ahlquist KD; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; De Fazio P; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Austin-Tse C; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Pais L; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Wedd L; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, 384 Victoria Street, Sydney, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Australia.; Bryen S; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, 384 Victoria Street, Sydney, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Australia.; Rius R; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, 384 Victoria Street, Sydney, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Australia.; Franklin M; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, 384 Victoria Street, Sydney, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Australia.; Morrison C; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, 384 Victoria Street, Sydney, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Australia.; Hall G; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA 02141.; Gauthier L; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA 02141.; Bloemendal A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA 02141.; Francis DI; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Mallett AJ; Townsville Hospital and Health Service, Townsville, QLD, Australia.; College of Medicine and Dentistry, James Cook University, Townsville, QLD, Australia.; Institute for Molecular Bioscience and Faculty of Medicine, The University of Queensland, Brisbane, QLD, Australia.; Mallawaarachchi A; Clinical Genetics Service, Royal Prince Alfred Hospital, Sydney, Australia.; Garvan Institute of Medical Research, Sydney, Australia.; Lockhart PJ; Murdoch Children's Research Institute, Melbourne, Australia.; University of Melbourne, Melbourne, Australia.; Leventer R; Murdoch Children's Research Institute, Melbourne, Australia.; University of Melbourne, Melbourne, Australia.; Royal Children's Hospital, Melbourne, Australia.; Scheffer IE; University of Melbourne, Melbourne, Australia.; Royal Children's Hospital, Melbourne, Australia.; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, VIC, Australia.; Howell KB; Murdoch Children's Research Institute, Melbourne, Australia.; University of Melbourne, Melbourne, Australia.; Royal Children's Hospital, Melbourne, Australia.; Kassahn KS; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia.; Adelaide Medical School, The University of Adelaide, Adelaide, Australia.; Scott HS; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia.; Adelaide Medical School, The University of Adelaide, Adelaide, Australia.; Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, South Australia, Australia.; McGaughran J; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.; Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia.; Christodoulou J; Murdoch Children's Research Institute, Melbourne, Australia.; University of Melbourne, Melbourne, Australia.; Thorburn DR; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Murdoch Children's Research Institute, Melbourne, Australia.; University of Melbourne, Melbourne, Australia.; Thompson BA; Department of Pathology, Royal Melbourne Hospital, Melbourne, Victoria, Australia.; Patel CV; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.; Smith G; Microsoft Research, Redmond, WA, USA.; O'Donnell-Luria A; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Sadedin S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Murdoch Children's Research Institute, Melbourne, Australia.; Rehm HL; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Lunke S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Murdoch Children's Research Institute, Melbourne, Australia.; University of Melbourne, Melbourne, Australia.; Wander J; Microsoft Research, Redmond, WA, USA.; Samocha KE; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Simons C; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, 384 Victoria Street, Sydney, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Australia.; MacArthur DG; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, 384 Victoria Street, Sydney, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Australia.; Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; University of Melbourne, Melbourne, Australia.; Australian Genomics, Melbourne, Australia.

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

Qaqorh T; Department of Molecular Pharmacology, National Cerebral and Cardiovascular Center, Suita, Osaka, Japan.; Department of Medical Biochemistry, Osaka University Graduate School of Frontier Biosciences, Suita, Osaka, Japan.; Takahashi Y; Department of Molecular Pharmacology, National Cerebral and Cardiovascular Center, Suita, Osaka, Japan.; Sameshima K; Department of Molecular Pharmacology, National Cerebral and Cardiovascular Center, Suita, Osaka, Japan.; Otani K; Department of Molecular Pharmacology, National Cerebral and Cardiovascular Center, Suita, Osaka, Japan.; Yazawa I; Department of Molecular Pharmacology, National Cerebral and Cardiovascular Center, Suita, Osaka, Japan.; Nishida Y; Department of Molecular Pharmacology, National Cerebral and Cardiovascular Center, Suita, Osaka, Japan.; Tonai K; Department of Molecular Pharmacology, National Cerebral and Cardiovascular Center, Suita, Osaka, Japan.; Fujihara Y; Department of Advanced Medical Technologies, National Cerebral and Cardiovascular Center, Suita, Osaka, Japan.; Honda M; Department of Drug Discovery Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan.; Oki S; Department of Drug Discovery Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan.; Ohkawa Y; Division of Transcriptomics, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan.; Thorburn DR; Murdoch Children's Research Institute, Royal Children's Hospital, and University of Melbourne, Department of Paediatrics, Parkville, Victoria, Australia.; Victorian Clinical Genetics Services, Royal Children's Hospital, Parkville, Victoria, Australia.; Frazier AE; Murdoch Children's Research Institute, Royal Children's Hospital, and University of Melbourne, Department of Paediatrics, Parkville, Victoria, Australia.; Takeda A; Department of Pediatrics, Faculty of Medicine, Hokkaido University, Sapporo, Japan.; Ikeda Y; Department of Pathology, National Cerebral and Cardiovascular Center, Suita, Osaka, Japan.; Sakaguchi H; Department of Pediatric Cardiology, National Cerebral and Cardiovascular Center, Suita, Osaka, Japan.; Watanabe T; Department of Transplant Medicine, National Cerebral and Cardiovascular Center, Suita, Osaka, Japan.; Fukushima N; Department of Transplant Medicine, National Cerebral and Cardiovascular Center, Suita, Osaka, Japan.; Senri Kinran University, Suita, Osaka, Japan.; Tsukamoto Y; Department of Transplant Medicine, National Cerebral and Cardiovascular Center, Suita, Osaka, Japan.; Makita N; Omics Research Center, National Cerebral and Cardiovascular Center, Suita, Osaka, Japan.; Department of Cardiology, Sapporo Teishinkai Hospital, Sapporo, Japan.; Yamaguchi O; Omics Research Center, National Cerebral and Cardiovascular Center, Suita, Osaka, Japan.; Murayama K; Department of Metabolism, Chiba Children's Hospital, Chiba, Japan.; Diagnostics and Therapeutic of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan.; Ohtake A; Department of Pediatrics and Clinical Genomics, Saitama Medical University, Moroyama, Saitama, Japan.; Okazaki Y; Diagnostics and Therapeutic of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan.; Kimura T; Department of Medical Biochemistry, Osaka University Graduate School of Frontier Biosciences, Suita, Osaka, Japan.; Kato H; Department of Medical Biochemistry, Osaka University Graduate School of Frontier Biosciences, Suita, Osaka, Japan.; Inoue H; Department of Medical Biochemistry, Osaka University Graduate School of Frontier Biosciences, Suita, Osaka, Japan.; Matsuoka K; Department of Medical Biochemistry, Osaka University Graduate School of Frontier Biosciences, Suita, Osaka, Japan.; Takashima S; Department of Medical Biochemistry, Osaka University Graduate School of Frontier Biosciences, Suita, Osaka, Japan.; Shintani Y; Department of Molecular Pharmacology, National Cerebral and Cardiovascular Center, Suita, Osaka, Japan.

Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101653440 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2375-2548 (Electronic) Linking ISSN: 23752548 NLM ISO Abbreviation: Sci Adv 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

Kiss S; Department of Metabolic Medicine, The Royal Children's Hospital, Parkville, Victoria, Australia.; Christodoulou J; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Murdoch, Victoria, Australia.; Thorburn DR; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Murdoch, Victoria, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Freeman JL; Department of Neurology, The Royal Children's Hospital, Parkville, Victoria, Australia.; Kornberg AJ; Department of Neurology, The Royal Children's Hospital, Parkville, Victoria, Australia.; Mandelstam S; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Department of Radiology, The Royal Children's Hospital, Parkville, Victoria, Australia.; Compton AG; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Murdoch, Victoria, Australia.; Cummings B; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Pais L; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Yaplito-Lee J; Department of Metabolic Medicine, The Royal Children's Hospital, Parkville, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; White SM; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.

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