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The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.
McGurk, Kathryn A; Zhang, Xiaolei; Theotokis, Pantazis; Thomson, Kate; Harper, Andrew; Buchan, Rachel J; Mazaika, Erica; Ormondroyd, Elizabeth; Wright, William T; Macaya, Daniela; Pua, Chee Jian; Funke, Birgit; MacArthur, Daniel G; Prasad, Sanjay K; Cook, Stuart A; Allouba, Mona; Aguib, Yasmine; Yacoub, Magdi H; O'Regan, Declan P; Barton, Paul J R; Watkins, Hugh; Bottolo, Leonardo; Ware, James S.
Affiliation
  • McGurk KA; National Heart and Lung Institute, Imperial College London, London, UK; MRC London Institute of Medical Sciences, Imperial College London, London, UK.
  • Zhang X; National Heart and Lung Institute, Imperial College London, London, UK.
  • Theotokis P; National Heart and Lung Institute, Imperial College London, London, UK; MRC London Institute of Medical Sciences, Imperial College London, London, UK.
  • Thomson K; Division of Cardiovascular Medicine, Radcliffe Department of Medicine and the Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
  • Harper A; Division of Cardiovascular Medicine, Radcliffe Department of Medicine and the Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
  • Buchan RJ; National Heart and Lung Institute, Imperial College London, London, UK; MRC London Institute of Medical Sciences, Imperial College London, London, UK; Royal Brompton & Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, UK.
  • Mazaika E; National Heart and Lung Institute, Imperial College London, London, UK.
  • Ormondroyd E; Division of Cardiovascular Medicine, Radcliffe Department of Medicine and the Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
  • Wright WT; Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast City Hospital, Belfast, Northern Ireland, UK.
  • Macaya D; GeneDx LLC, Gaithersburg, MD, USA.
  • Pua CJ; National Heart Research Institute Singapore and Duke-National University of Singapore, Singapore, Singapore.
  • Funke B; Laboratory for Molecular Medicine, Partners Healthcare Center for Personalized Genetic Medicine, Boston, MA, USA.
  • MacArthur DG; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW, Sydney, NSW, Australia; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
  • Prasad SK; National Heart and Lung Institute, Imperial College London, London, UK; Royal Brompton & Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, UK.
  • Cook SA; MRC London Institute of Medical Sciences, Imperial College London, London, UK; National Heart Research Institute Singapore and Duke-National University of Singapore, Singapore, Singapore.
  • Allouba M; National Heart and Lung Institute, Imperial College London, London, UK; Aswan Heart Centre, Aswan, Egypt.
  • Aguib Y; National Heart and Lung Institute, Imperial College London, London, UK; Aswan Heart Centre, Aswan, Egypt.
  • Yacoub MH; National Heart and Lung Institute, Imperial College London, London, UK; Royal Brompton & Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, UK; Aswan Heart Centre, Aswan, Egypt.
  • O'Regan DP; MRC London Institute of Medical Sciences, Imperial College London, London, UK.
  • Barton PJR; National Heart and Lung Institute, Imperial College London, London, UK; MRC London Institute of Medical Sciences, Imperial College London, London, UK; Royal Brompton & Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, UK.
  • Watkins H; Division of Cardiovascular Medicine, Radcliffe Department of Medicine and the Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
  • Bottolo L; Department of Medical Genetics, University of Cambridge, Cambridge, UK; The Alan Turing Institute, London, UK; MRC Biostatistics Unit, University of Cambridge, Cambridge, UK.
  • Ware JS; National Heart and Lung Institute, Imperial College London, London, UK; MRC London Institute of Medical Sciences, Imperial College London, London, UK; Royal Brompton & Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, UK. Electronic address: j.ware@imperial.ac.uk.
Am J Hum Genet ; 110(9): 1482-1495, 2023 09 07.
Article in En | MEDLINE | ID: mdl-37652022
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cardiomyopathy, Hypertrophic / Cardiomyopathy, Dilated / Cardiomyopathies Type of study: Diagnostic_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limits: Adult / Female / Humans / Male Language: En Journal: Am J Hum Genet Year: 2023 Document type: Article Affiliation country: Country of publication:
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cardiomyopathy, Hypertrophic / Cardiomyopathy, Dilated / Cardiomyopathies Type of study: Diagnostic_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limits: Adult / Female / Humans / Male Language: En Journal: Am J Hum Genet Year: 2023 Document type: Article Affiliation country: Country of publication: