Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing.

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Title: Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing.
Authors: Ball M; 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. Electronic address: megan.ball@mcri.edu.au., Bouffler SE; Australian Genomics, Melbourne, Australia., Barnett CB; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, North Adelaide, Australia; Adelaide Medical School, The University of Adelaide, Adelaide, Australia., Freckmann ML; Department of Clinical Genetics, The Canberra Hospital, Canberra, Australia., Hunter MF; Monash Genetics, Monash Health, Melbourne, Australia; Department of Paediatrics, Monash University, Melbourne, Australia., Kamien B; Genetic Services of Western Australia, Perth, Australia., Kassahn KS; Adelaide Medical School, The University of Adelaide, Adelaide, Australia; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia., Lunke S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia; Australian Genomics, Melbourne, Australia., Patel CV; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Australia., Pinner J; Sydney Children's Hospitals Network - Randwick, Sydney, Australia; University of New South Wales, Sydney, New South Wales, Australia., Roscioli T; NSW Health Pathology Randwick Genomics Laboratory, Sydney, Australia; Euroscience Research Australia, University of New South Wales, Sydney, Australia., Sandaradura SA; Sydney Children's Hospitals Network-Westmead, Sydney, Australia; University of Sydney, Sydney, Australia., Scott HS; Australian Genomics, Melbourne, Australia; Adelaide Medical School, The University of Adelaide, Adelaide, Australia; Department of Genetics and Molecular Pathology, SA Pathology, 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, Australia., Tan TY; Department of Paediatrics, University of Melbourne, Melbourne, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia., Wallis M; Tasmanian Clinical Genetics Service, Tasmanian Health Service, Hobart, Australia; School of Medicine and Menzies Institute for Medical Research, University of Tasmania, Hobart, Australia., Compton AG; 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; 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., Stark Z; Department of Paediatrics, University of Melbourne, Melbourne, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia; Australian Genomics, Melbourne, Australia., Christodoulou J; 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; Australian Genomics, Melbourne, Australia. Electronic address: john.christodoulou@mcri.edu.au.
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2025 Jan; Vol. 27 (1), pp. 101293. Date of Electronic Publication: 2024 Oct 15.
Publication Type: Journal Article
Journal Info: 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
Database: MEDLINE Ultimate
Description
ISSN:1530-0366
DOI:10.1016/j.gim.2024.101293