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Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield.
Thomson, Kate L; Ormondroyd, Elizabeth; Harper, Andrew R; Dent, Tim; McGuire, Karen; Baksi, John; Blair, Edward; Brennan, Paul; Buchan, Rachel; Bueser, Teofila; Campbell, Carolyn; Carr-White, Gerald; Cook, Stuart; Daniels, Matthew; Deevi, Sri V V; Goodship, Judith; Hayesmoore, Jesse B G; Henderson, Alex; Lamb, Teresa; Prasad, Sanjay; Rayner-Matthews, Paula; Robert, Leema; Sneddon, Linda; Stark, Hannah; Walsh, Roddy; Ware, James S; Farrall, Martin; Watkins, Hugh C.
Affiliation
  • Thomson KL; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
  • Ormondroyd E; Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, The Churchill Hospital, Oxford, UK.
  • Harper AR; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
  • Dent T; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
  • McGuire K; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
  • Baksi J; Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, The Churchill Hospital, Oxford, UK.
  • Blair E; National Heart and Lung Institute, Imperial College London, London, UK.
  • Brennan P; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Buchan R; Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle, UK.
  • Bueser T; National Heart and Lung Institute, Imperial College London, London, UK.
  • Campbell C; Cardiovascular Research Centre, Royal Brompton & Harefield Hospitals NHS Foundation Trust, London, UK.
  • Carr-White G; King's College London, Guy's & St Thomas' Hospital NHS Foundation Trust, King's College Hospital NHS Foundation Trust, London, UK.
  • Cook S; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
  • Daniels M; Guy's & St Thomas' Hospital NHS Foundation Trust, London, UK.
  • Deevi SVV; National Heart and Lung Institute, Imperial College London, London, UK.
  • Goodship J; National Heart Research Institute Singapore, National Heart Centre Singapore, Singapore, Singapore.
  • Hayesmoore JBG; Division of Cardiovascular & Metabolic Disorders, Duke-National University of, Singapore, Singapore.
  • Henderson A; MRC London Institute of Medical Sciences, Imperial College London, London, UK.
  • Lamb T; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
  • Prasad S; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
  • Rayner-Matthews P; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK.
  • Robert L; Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle, UK.
  • Sneddon L; Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, The Churchill Hospital, Oxford, UK.
  • Stark H; Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle, UK.
  • Walsh R; Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, The Churchill Hospital, Oxford, UK.
  • Ware JS; National Heart and Lung Institute, Imperial College London, London, UK.
  • Farrall M; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
  • Watkins HC; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK.
Genet Med ; 21(7): 1576-1584, 2019 07.
Article in En | MEDLINE | ID: mdl-30531895
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Sarcomeres / Cardiomyopathy, Hypertrophic Type of study: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Aged / Female / Humans / Male / Middle aged Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2019 Type: Article Affiliation country: United kingdom
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Sarcomeres / Cardiomyopathy, Hypertrophic Type of study: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Aged / Female / Humans / Male / Middle aged Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2019 Type: Article Affiliation country: United kingdom