Your browser doesn't support javascript.
loading
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.
Kelly, Melissa A; Caleshu, Colleen; Morales, Ana; Buchan, Jillian; Wolf, Zena; Harrison, Steven M; Cook, Stuart; Dillon, Mitchell W; Garcia, John; Haverfield, Eden; Jongbloed, Jan D H; Macaya, Daniela; Manrai, Arjun; Orland, Kate; Richard, Gabriele; Spoonamore, Katherine; Thomas, Matthew; Thomson, Kate; Vincent, Lisa M; Walsh, Roddy; Watkins, Hugh; Whiffin, Nicola; Ingles, Jodie; van Tintelen, J Peter; Semsarian, Christopher; Ware, James S; Hershberger, Ray; Funke, Birgit.
Afiliação
  • Kelly MA; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Boston, Massachusetts, USA.
  • Caleshu C; Stanford Center for Inherited Cardiovascular Disease, Stanford University, Stanford, California, USA.
  • Morales A; Division of Human Genetics, Department of Internal Medicine, Ohio State University, Columbus, Ohio, USA.
  • Buchan J; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Boston, Massachusetts, USA.
  • Wolf Z; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Boston, Massachusetts, USA.
  • Harrison SM; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Boston, Massachusetts, USA.
  • Cook S; National Heart and Lung Institute, Imperial College London, London, UK.
  • Dillon MW; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Boston, Massachusetts, USA.
  • Garcia J; Invitae Inc., San Francisco, California, USA.
  • Haverfield E; Invitae Inc., San Francisco, California, USA.
  • Jongbloed JDH; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, Netherlands.
  • Macaya D; GeneDx Laboratories, Gaithersburg, Maryland, USA.
  • Manrai A; Harvard School of Public Health, Boston, Massachusetts, USA.
  • Orland K; Clinical Science Center, University of Wisconsin, Madison, Wisconsin, USA.
  • Richard G; GeneDx Laboratories, Gaithersburg, Maryland, USA.
  • Spoonamore K; Krannert Institute of Cardiology, Indiana University, Indianapolis, Indiana, USA.
  • Thomas M; Division of Genetics, Department of Pediatrics, University of Virginia, Charlottesville, Virginia, USA.
  • Thomson K; Oxford Medical Genetics Laboratory, Oxford University Hospitals NHS Foundation Trust, The Churchill Hospital, Oxford, UK.
  • Vincent LM; Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
  • Walsh R; GeneDx Laboratories, Gaithersburg, Maryland, USA.
  • Watkins H; National Heart and Lung Institute, Imperial College London, London, UK.
  • Whiffin N; Royal Brompton & Harefield Hospitals NHS Trust, London, UK.
  • Ingles J; Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
  • van Tintelen JP; National Heart and Lung Institute, Imperial College London, London, UK.
  • Semsarian C; Royal Brompton & Harefield Hospitals NHS Trust, London, UK.
  • Ware JS; Agnes Ginges Centre for Molecular Cardiology, Centenary Institute and University of Sydney, Sydney, Australia.
  • Hershberger R; Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.
  • Funke B; Agnes Ginges Centre for Molecular Cardiology, Centenary Institute and University of Sydney, Sydney, Australia.
Genet Med ; 20(3): 351-359, 2018 03.
Article em En | MEDLINE | ID: mdl-29300372
Assuntos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Variação Genética / Cadeias Pesadas de Miosina / Miosinas Cardíacas / Doenças Genéticas Inatas / Cardiomiopatias Idioma: En Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Variação Genética / Cadeias Pesadas de Miosina / Miosinas Cardíacas / Doenças Genéticas Inatas / Cardiomiopatias Idioma: En Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Estados Unidos