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Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions.
Zhang, Xiaolei; Walsh, Roddy; Whiffin, Nicola; Buchan, Rachel; Midwinter, William; Wilk, Alicja; Govind, Risha; Li, Nicholas; Ahmad, Mian; Mazzarotto, Francesco; Roberts, Angharad; Theotokis, Pantazis I; Mazaika, Erica; Allouba, Mona; de Marvao, Antonio; Pua, Chee Jian; Day, Sharlene M; Ashley, Euan; Colan, Steven D; Michels, Michelle; Pereira, Alexandre C; Jacoby, Daniel; Ho, Carolyn Y; Olivotto, Iacopo; Gunnarsson, Gunnar T; Jefferies, John L; Semsarian, Chris; Ingles, Jodie; O'Regan, Declan P; Aguib, Yasmine; Yacoub, Magdi H; Cook, Stuart A; Barton, Paul J R; Bottolo, Leonardo; Ware, James S.
Afiliação
  • Zhang X; National Heart and Lung Institute, Imperial College London, London, United Kingdom.
  • Walsh R; Cardiovascular Research Centre, Royal Brompton and Harefield NHS, Foundation Trust London, London, United Kingdom.
  • Whiffin N; National Heart and Lung Institute, Imperial College London, London, United Kingdom.
  • Buchan R; Cardiovascular Research Centre, Royal Brompton and Harefield NHS, Foundation Trust London, London, United Kingdom.
  • Midwinter W; National Heart and Lung Institute, Imperial College London, London, United Kingdom.
  • Wilk A; Cardiovascular Research Centre, Royal Brompton and Harefield NHS, Foundation Trust London, London, United Kingdom.
  • Govind R; National Heart and Lung Institute, Imperial College London, London, United Kingdom.
  • Li N; Cardiovascular Research Centre, Royal Brompton and Harefield NHS, Foundation Trust London, London, United Kingdom.
  • Ahmad M; National Heart and Lung Institute, Imperial College London, London, United Kingdom.
  • Mazzarotto F; Cardiovascular Research Centre, Royal Brompton and Harefield NHS, Foundation Trust London, London, United Kingdom.
  • Roberts A; National Heart and Lung Institute, Imperial College London, London, United Kingdom.
  • Theotokis PI; Cardiovascular Research Centre, Royal Brompton and Harefield NHS, Foundation Trust London, London, United Kingdom.
  • Mazaika E; National Heart and Lung Institute, Imperial College London, London, United Kingdom.
  • Allouba M; Cardiovascular Research Centre, Royal Brompton and Harefield NHS, Foundation Trust London, London, United Kingdom.
  • de Marvao A; Cardiovascular Research Centre, Royal Brompton and Harefield NHS, Foundation Trust London, London, United Kingdom.
  • Pua CJ; MRC London Institute of Medical Sciences, Imperial College London, London, United Kingdom.
  • Day SM; National Heart and Lung Institute, Imperial College London, London, United Kingdom.
  • Ashley E; Cardiovascular Research Centre, Royal Brompton and Harefield NHS, Foundation Trust London, London, United Kingdom.
  • Colan SD; National Heart and Lung Institute, Imperial College London, London, United Kingdom.
  • Michels M; Cardiomyopathy Unit, Careggi University Hospital, Florence, Italy.
  • Pereira AC; Department of Clinical and Experimental Medicine, University of Florence, Florence, Italy.
  • Jacoby D; National Heart and Lung Institute, Imperial College London, London, United Kingdom.
  • Ho CY; Cardiovascular Research Centre, Royal Brompton and Harefield NHS, Foundation Trust London, London, United Kingdom.
  • Olivotto I; National Heart and Lung Institute, Imperial College London, London, United Kingdom.
  • Gunnarsson GT; Cardiovascular Research Centre, Royal Brompton and Harefield NHS, Foundation Trust London, London, United Kingdom.
  • Jefferies JL; National Heart and Lung Institute, Imperial College London, London, United Kingdom.
  • Semsarian C; Cardiovascular Research Centre, Royal Brompton and Harefield NHS, Foundation Trust London, London, United Kingdom.
  • Ingles J; National Heart and Lung Institute, Imperial College London, London, United Kingdom.
  • O'Regan DP; Aswan Heart Centre, Magdi Yacoub Heart Foundation, Aswan, Egypt.
  • Aguib Y; MRC London Institute of Medical Sciences, Imperial College London, London, United Kingdom.
  • Yacoub MH; National Heart Centre, Singapore, Singapore.
  • Cook SA; Division of Cardiovascular Medicine and Penn Cardiovascular Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, USA.
  • Barton PJR; Division of Cardiovascular Medicine, Stanford University Medical Center, Stanford, CA, USA.
  • Bottolo L; Department of Cardiology, Boston Children's Hospital, Boston, MA, USA.
  • Ware JS; Department of Cardiology, Thoraxcenter, Erasmus MC Rotterdam, Rotterdam, Netherlands.
Genet Med ; 23(1): 69-79, 2021 01.
Article em En | MEDLINE | ID: mdl-33046849
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto / Cardiomiopatias Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Humans / Middle aged Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto / Cardiomiopatias Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Humans / Middle aged Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Reino Unido