Skip to Main Content

Paper Details

Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy.
Genome Med
76
2019
HCM, Inherited cardiomyopathies, Mendelian disease, Mendelian diseases, gene regions, hypertrophic cardiomyopathy, patient, variants
Author NameAffiliation
Roddy WalshCardiovascular Research Centre, Cardiovascular Genetics and Genomics group at Royal Brompton Hospital and Harefield NHS Foundation Trust
Roddy Walsh
Roddy WalshNational Heart and Lung Institute, Imperial College London
Francesco MazzarottoCardiovascular Research Centre, Cardiovascular Genetics and Genomics group at Royal Brompton Hospital and Harefield NHS Foundation Trust
Francesco MazzarottoUniversity of Florence
Francesco MazzarottoCareggi University Hospital
Rachel BuchanCardiovascular Research Centre, Cardiovascular Genetics and Genomics group at Royal Brompton Hospital and Harefield NHS Foundation Trust
Rachel BuchanNational Heart and Lung Institute, Imperial College London
Leanne E FelkinCardiovascular Research Centre, Cardiovascular Genetics and Genomics group at Royal Brompton Hospital and Harefield NHS Foundation Trust
Leanne E FelkinNational Heart and Lung Institute, Imperial College London
Antonio de MarvaoMRC London Institute of Medical Sciences, Imperial College London
Euan A AshleyStanford University Medical Center
Steven D ColanBoston Children's Hospital
Alexandre C PereiraHeart Institute (InCor), University of Sao Paulo Medical School
Hugh WatkinsUniversity of Oxford
Hugh WatkinsUniversity of Oxford
Paul J R BartonCardiovascular Research Centre, Cardiovascular Genetics and Genomics group at Royal Brompton Hospital and Harefield NHS Foundation Trust
Paul J R BartonNational Heart and Lung Institute, Imperial College London
Stuart A CookCardiovascular Research Centre, Cardiovascular Genetics and Genomics group at Royal Brompton Hospital and Harefield NHS Foundation Trust
Stuart A CookNational Heart and Lung Institute, Imperial College London
Stuart A Cook
Stuart A CookDuke-National University of Singapore
James S WareCardiovascular Research Centre, Cardiovascular Genetics and Genomics group at Royal Brompton Hospital and Harefield NHS Foundation Trust
James S WareNational Heart and Lung Institute, Imperial College London
James S WareMRC London Institute of Medical Sciences, Imperial College London
  • 1 - 25

Datasets