Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Circulation. Genomic And Precision Medicine
Ingles, Jodie J; Goldstein, Jennifer J; Thaxton, Courtney C; Caleshu, Colleen C; Corty, Edward W EW; Crowley, Stephanie B SB; Dougherty, Kristen K; Harrison, Steven M SM; McGlaughon, Jennifer J; Milko, Laura V LV; Morales, Ana A; Seifert, Bryce A BA; Strande, Natasha N; Thomson, Kate K; Peter van Tintelen, J J; Wallace, Kathleen K; Walsh, Roddy R; Wells, Quinn Q; Whiffin, Nicola N; Witkowski, Leora L; Semsarian, Christopher C; Ware, James S JS; Hershberger, Ray E RE; Funke, Birgit B
Publication Date: 2019-02
Variant appearance in text: MYH7: 5494C>T; Arg1832Cys; rs201865159
Genetic Etiology for Alcohol-Induced Cardiac Toxicity.
Journal Of The American College Of Cardiology
Ware, James S JS; Amor-Salamanca, Almudena A; Tayal, Upasana U; Govind, Risha R; Serrano, Isabel I; Salazar-Mendiguchía, Joel J; García-Pinilla, Jose Manuel JM; Pascual-Figal, Domingo A DA; Nuñez, Julio J; Guzzo-Merello, Gonzalo G; Gonzalez-Vioque, Emiliano E; Bardaji, Alfredo A; Manito, Nicolas N; López-Garrido, Miguel A MA; Padron-Barthe, Laura L; Edwards, Elizabeth E; Whiffin, Nicola N; Walsh, Roddy R; Buchan, Rachel J RJ; Midwinter, William W; Wilk, Alicja A; Prasad, Sanjay S; Pantazis, Antonis A; Baski, John J; O'Regan, Declan P DP; Alonso-Pulpon, Luis L; Cook, Stuart A SA; Lara-Pezzi, Enrique E; Barton, Paul J PJ; Garcia-Pavia, Pablo P
Publication Date: 2018-05-22
Variant appearance in text: MYH7: 5494C>T; Arg1832Cys
New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.
European Journal Of Human Genetics : Ejhg
Andreasen, Charlotte C; Nielsen, Jonas B JB; Refsgaard, Lena L; Holst, Anders G AG; Christensen, Alex H AH; Andreasen, Laura L; Sajadieh, Ahmad A; Haunsø, Stig S; Svendsen, Jesper H JH; Olesen, Morten S MS
The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy.
European Journal Of Human Genetics : Ejhg
Møller, Daniel Vega DV; Andersen, Paal Skytt PS; Hedley, Paula P; Ersbøll, Mads Kristian MK; Bundgaard, Henning H; Moolman-Smook, Johanna J; Christiansen, Michael M; Køber, Lars L