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Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases.

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Title: Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases.
Authors: 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.
Corporate Authors: MitoMDT Diagnostic Network for Genomics and Omics
Source: Genome medicine [Genome Med] 2025 May 22; Vol. 17 (1), pp. 58. Date of Electronic Publication: 2025 May 22.
Publication Type: Journal Article; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, Non-U.S. Gov't
Journal Info: 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
Database: MEDLINE Ultimate
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  Data: Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases.
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  Data: <searchLink fieldCode="AU" term="%22Hock+DH%22">Hock DH</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Caruana+NJ%22">Caruana NJ</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Semcesen+LN%22">Semcesen LN</searchLink>; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Melbourne, VIC, 3010, Australia.<br /><searchLink fieldCode="AU" term="%22Lake+NJ%22">Lake NJ</searchLink>; 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