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Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
Josephs, Katherine S; Roberts, Angharad M; Theotokis, Pantazis; Walsh, Roddy; Ostrowski, Philip J; Edwards, Matthew; Fleming, Andrew; Thaxton, Courtney; Roberts, Jason D; Care, Melanie; Zareba, Wojciech; Adler, Arnon; Sturm, Amy C; Tadros, Rafik; Novelli, Valeria; Owens, Emma; Bronicki, Lucas; Jarinova, Olga; Callewaert, Bert; Peters, Stacey; Lumbers, Tom; Jordan, Elizabeth; Asatryan, Babken; Krishnan, Neesha; Hershberger, Ray E; Chahal, C Anwar A; Landstrom, Andrew P; James, Cynthia; McNally, Elizabeth M; Judge, Daniel P; van Tintelen, Peter; Wilde, Arthur; Gollob, Michael; Ingles, Jodie; Ware, James S.
Afiliación
  • Josephs KS; National Heart and Lung Institute, Imperial College London, Du Cane Road, London, W12 0NN, UK.
  • Roberts AM; Royal Brompton and Harefield Hospitals, Guy's and St Thomas' NHS Foundation Trust, London, UK.
  • Theotokis P; National Heart and Lung Institute, Imperial College London, Du Cane Road, London, W12 0NN, UK.
  • Walsh R; Great Ormond Street Hospital, NHS Foundation Trust, London, UK.
  • Ostrowski PJ; National Heart and Lung Institute, Imperial College London, Du Cane Road, London, W12 0NN, UK.
  • Edwards M; Amsterdam University Medical Centre, University of Amsterdam, Heart Center, Department of Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam, The Netherlands.
  • Fleming A; Great Ormond Street Hospital, NHS Foundation Trust, London, UK.
  • Thaxton C; Clinical Genetics & Genomics Lab, Royal Brompton and Harefield Hospitals, Guy's and St Thomas' NHS Foundation Trust, London, UK.
  • Roberts JD; Clinical Genetics & Genomics Lab, Royal Brompton and Harefield Hospitals, Guy's and St Thomas' NHS Foundation Trust, London, UK.
  • Care M; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
  • Zareba W; Population Health Research Institute, McMaster University, and Hamilton Health Sciences, Hamilton, Ontario, Canada.
  • Adler A; Department of Molecular Genetics, University of Toronto, Toronto, Canada.
  • Sturm AC; Division of Cardiology, Toronto General Hospital, Toronto, Canada.
  • Tadros R; Clinical Cardiovascular Research Center, University of Rochester, Rochester, NY, USA.
  • Novelli V; Division of Cardiology, Peter Munk Cardiac Centre, University Health Network and Department of Medicine, University of Toronto, Toronto, Ontario, Canada.
  • Owens E; 23andMe, Genomic Health, Sunnyvale, CA, USA.
  • Bronicki L; Cardiovascular Genetics Center, Montreal Heart Institute, and Faculty of Medicine, Université de Montréal, Montreal, Canada.
  • Jarinova O; Unit of Immunology and Functional Genomics, Centro Cardiologico Monzino IRCCS, Milano, Italy.
  • Callewaert B; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
  • Peters S; Department of Pathology and Laboratory Medicine, University of Ottawa, Ottawa, Ontario, Canada.
  • Lumbers T; Department of Genetics, CHEO, Ottawa, Ontario, Canada.
  • Jordan E; Department of Pathology and Laboratory Medicine, University of Ottawa, Ottawa, Ontario, Canada.
  • Asatryan B; Department of Genetics, CHEO, Ottawa, Ontario, Canada.
  • Krishnan N; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Hershberger RE; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.
  • Chahal CAA; Department of Cardiology and Genomic Medicine, Royal Melbourne Hospital, Melbourne, Australia.
  • Landstrom AP; University of Melbourne, Melbourne, Australia.
  • James C; Barts Health & University College London Hospitals NHS Trusts, London, UK.
  • McNally EM; Institute of Health Informatics, University College London, London, UK.
  • Judge DP; Divisions of Human Genetics and Cardiovascular Medicine, The Ohio State University, Columbus, OH, USA.
  • van Tintelen P; Department of Cardiology, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
  • Wilde A; Division of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
  • Gollob M; Centre for Population Genomics, Garvan Institute of Medical Research, and UNSW Sydney, Sydney, Australia.
  • Ingles J; Divisions of Human Genetics and Cardiovascular Medicine, The Ohio State University, Columbus, OH, USA.
  • Ware JS; Center for Inherited Cardiovascular Diseases, WellSpan Health, Lancaster, PA, USA.
Genome Med ; 15(1): 86, 2023 10 23.
Article en En | MEDLINE | ID: mdl-37872640
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Variación Genética / Pruebas Genéticas Límite: Humans Idioma: En Revista: Genome Med Año: 2023 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Variación Genética / Pruebas Genéticas Límite: Humans Idioma: En Revista: Genome Med Año: 2023 Tipo del documento: Article País de afiliación: Reino Unido