Mainstreaming genomic testing for mitochondrial disease in Australia.

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Title: Mainstreaming genomic testing for mitochondrial disease in Australia.
Authors: Ball M; Murdoch Children's Research Institute, Melbourne, VIC, Australia. megan.ball@mcri.edu.au.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia. megan.ball@mcri.edu.au.; Royal Children's Hospital, Melbourne, VIC, Australia. megan.ball@mcri.edu.au., Baker N; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia., Lim SC; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia., Casauria S; Murdoch Children's Research Institute, Melbourne, VIC, Australia., Lunke S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Pathology, University of Melbourne, Melbourne, VIC, Australia., Compton AG; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia., Thorburn DR; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia., Christodoulou J; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia., Stark Z; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia. zornitza.stark@vcgs.org.au.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia. zornitza.stark@vcgs.org.au.
Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 May; Vol. 34 (5), pp. 658-666. Date of Electronic Publication: 2026 Feb 26.
Publication Type: Journal Article
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1476-5438
DOI:10.1038/s41431-026-02053-6