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Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
Schon, Katherine R; Horvath, Rita; Wei, Wei; Calabrese, Claudia; Tucci, Arianna; Ibañez, Kristina; Ratnaike, Thiloka; Pitceathly, Robert D S; Bugiardini, Enrico; Quinlivan, Rosaline; Hanna, Michael G; Clement, Emma; Ashton, Emma; Sayer, John A; Brennan, Paul; Josifova, Dragana; Izatt, Louise; Fratter, Carl; Nesbitt, Victoria; Barrett, Timothy; McMullen, Dominic J; Smith, Audrey; Deshpande, Charulata; Smithson, Sarah F; Festenstein, Richard; Canham, Natalie; Caulfield, Mark; Houlden, Henry; Rahman, Shamima; Chinnery, Patrick F.
Afiliação
  • Schon KR; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, UK.
  • Horvath R; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.
  • Wei W; East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
  • Calabrese C; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, UK.
  • Tucci A; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, UK.
  • Ibañez K; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.
  • Ratnaike T; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, UK.
  • Pitceathly RDS; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.
  • Bugiardini E; William Harvey Research Institute, Queen Mary University of London, London, UK.
  • Quinlivan R; William Harvey Research Institute, Queen Mary University of London, London, UK.
  • Hanna MG; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, UK.
  • Clement E; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.
  • Ashton E; Department of Paediatrics, University of Cambridge, Cambridge, UK.
  • Sayer JA; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Brennan P; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Josifova D; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Izatt L; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Fratter C; Department of Clinical Genetics and Genomic Medicine, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Nesbitt V; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Barrett T; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
  • McMullen DJ; Northern Genetics Service, Newcastle Hospitals NHS Foundation Trust, International Centre for Life, Newcastle upon Tyne, UK.
  • Smith A; Department of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, UK.
  • Deshpande C; Department of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, UK.
  • Smithson SF; NHS Highly Specialised Services for Rare Mitochondrial Disorders - Oxford Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Festenstein R; NHS Highly Specialised Services for Rare Mitochondrial Disorders - Oxford Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Canham N; Central and South Genome Medicine Service Alliance and Genomics Laboratory Hub, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
  • Caulfield M; Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.
  • Houlden H; Central and South Genome Medicine Service Alliance and Genomics Laboratory Hub, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
  • Rahman S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester, UK.
  • Chinnery PF; Department of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, UK.
BMJ ; 375: e066288, 2021 11 03.
Article em En | MEDLINE | ID: mdl-34732400
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Testes Genéticos / Doenças Mitocondriais / Sequenciamento Completo do Genoma Tipo de estudo: Etiology_studies / Guideline / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Aged80 / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Testes Genéticos / Doenças Mitocondriais / Sequenciamento Completo do Genoma Tipo de estudo: Etiology_studies / Guideline / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Aged80 / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article