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Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh, Roddy; Thomson, Kate L; Ware, James S; Funke, Birgit H; Woodley, Jessica; McGuire, Karen J; Mazzarotto, Francesco; Blair, Edward; Seller, Anneke; Taylor, Jenny C; Minikel, Eric V; MacArthur, Daniel G; Farrall, Martin; Cook, Stuart A; Watkins, Hugh.
Affiliation
  • Walsh R; NIHR Royal Brompton Cardiovascular Biomedical Research Unit, Royal Brompton Hospital and Imperial College London, London, UK.
  • Thomson KL; National Heart and Lung Institute, Imperial College London, UK.
  • Ware JS; Oxford Medical Genetics Laboratory, Oxford University Hospitals NHS Foundation Trust, The Churchill Hospital, Oxford, UK.
  • Funke BH; Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
  • Woodley J; NIHR Royal Brompton Cardiovascular Biomedical Research Unit, Royal Brompton Hospital and Imperial College London, London, UK.
  • McGuire KJ; National Heart and Lung Institute, Imperial College London, UK.
  • Mazzarotto F; MRC Clinical Sciences Centre, Imperial College London, UK.
  • Blair E; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts, USA.
  • Seller A; Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.
  • Taylor JC; Oxford Medical Genetics Laboratory, Oxford University Hospitals NHS Foundation Trust, The Churchill Hospital, Oxford, UK.
  • Minikel EV; Oxford Medical Genetics Laboratory, Oxford University Hospitals NHS Foundation Trust, The Churchill Hospital, Oxford, UK.
  • Exome Aggregation Consortium; NIHR Royal Brompton Cardiovascular Biomedical Research Unit, Royal Brompton Hospital and Imperial College London, London, UK.
  • MacArthur DG; National Heart and Lung Institute, Imperial College London, UK.
  • Farrall M; Department of Clinical Genetics, Oxford University Hospitals NHS Foundation Trust, The Churchill Hospital, Oxford, UK.
  • Cook SA; Oxford Medical Genetics Laboratory, Oxford University Hospitals NHS Foundation Trust, The Churchill Hospital, Oxford, UK.
  • Watkins H; Oxford NIHR Biomedical Research Centre, Oxford, UK.
Genet Med ; 19(2): 192-203, 2017 02.
Article in En | MEDLINE | ID: mdl-27532257

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Variation / Genetic Testing / Genetic Diseases, Inborn / Cardiomyopathies Limits: Humans Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2017 Type: Article Affiliation country: United kingdom

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Variation / Genetic Testing / Genetic Diseases, Inborn / Cardiomyopathies Limits: Humans Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2017 Type: Article Affiliation country: United kingdom