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Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease.

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Title: Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease.
Authors: Olimpio C; Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, University of Cambridge, Cambridge, UK.; East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Paramonov I; Centro Nacional de Análisis Genómico, Barcelona, Spain., Matalonga L; Centro Nacional de Análisis Genómico, Barcelona, Spain., Laurie S; Centro Nacional de Análisis Genómico, Barcelona, Spain., Schon K; Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, University of Cambridge, Cambridge, UK.; East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Polavarapu K; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, ON, Canada., Kirschner J; Department of Neuropediatrics and Muscle Disorders, Faculty of Medicine, Medical Center-University of Freiburg, Freiburg, Germany., Schara-Schmidt U; Department of Pediatric Neurology, Center for Neuromuscular Disorders, Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Hospital Essen, Essen, Germany., Lochmüller H; Centro Nacional de Análisis Genómico, Barcelona, Spain.; Department of Neuropediatrics and Muscle Disorders, Faculty of Medicine, Medical Center-University of Freiburg, Freiburg, Germany.; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Brain and Mind Research Institute, University of Ottawa, Ottawa, ON, Canada.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, ON, Canada., Chinnery PF; MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK., Horvath R; Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, University of Cambridge, Cambridge, UK.
Source: Journal of neuromuscular diseases [J Neuromuscul Dis] 2024; Vol. 11 (4), pp. 767-775.
Publication Type: Journal Article
Journal Info: Publisher: SAGE Publications Country of Publication: United States NLM ID: 101649948 Publication Model: Print Cited Medium: Internet ISSN: 2214-3602 (Electronic) Linking ISSN: 22143599 NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease.
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  Data: <searchLink fieldCode="AU" term="%22Olimpio+C%22">Olimpio C</searchLink>; Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, University of Cambridge, Cambridge, UK.; East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Paramonov+I%22">Paramonov I</searchLink>; Centro Nacional de Análisis Genómico, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Matalonga+L%22">Matalonga L</searchLink>; Centro Nacional de Análisis Genómico, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Laurie+S%22">Laurie S</searchLink>; Centro Nacional de Análisis Genómico, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Schon+K%22">Schon K</searchLink>; Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, University of Cambridge, Cambridge, UK.; East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Polavarapu+K%22">Polavarapu K</searchLink>; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Kirschner+J%22">Kirschner J</searchLink>; Department of Neuropediatrics and Muscle Disorders, Faculty of Medicine, Medical Center-University of Freiburg, Freiburg, Germany.<br /><searchLink fieldCode="AU" term="%22Schara-Schmidt+U%22">Schara-Schmidt U</searchLink>; Department of Pediatric Neurology, Center for Neuromuscular Disorders, Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Hospital Essen, Essen, Germany.<br /><searchLink fieldCode="AU" term="%22Lochmüller+H%22">Lochmüller H</searchLink>; Centro Nacional de Análisis Genómico, Barcelona, Spain.; Department of Neuropediatrics and Muscle Disorders, Faculty of Medicine, Medical Center-University of Freiburg, Freiburg, Germany.; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Brain and Mind Research Institute, University of Ottawa, Ottawa, ON, Canada.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Chinnery+PF%22">Chinnery PF</searchLink>; MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Horvath+R%22">Horvath R</searchLink>; Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, University of Cambridge, Cambridge, UK.
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  Data: <searchLink fieldCode="JN" term="%22101649948%22">Journal of neuromuscular diseases</searchLink> [J Neuromuscul Dis] 2024; Vol. 11 (4), pp. 767-775.
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              Text: 2024
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