Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.
Jama Cardiology
Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM
Publication Date: 2022-09-01
Variant appearance in text: MYBPC3: 1960C>T; Arg654Cys
Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy.
The Journal Of Biological Chemistry
Suay-Corredera, Carmen C; Pricolo, Maria Rosaria MR; Herrero-Galán, Elías E; Velázquez-Carreras, Diana D; Sánchez-Ortiz, David D; García-Giustiniani, Diego D; Delgado, Javier J; Galano-Frutos, Juan José JJ; García-Cebollada, Helena H; Vilches, Silvia S; Domínguez, Fernando F; Molina, María Sabater MS; Barriales-Villa, Roberto R; Frisso, Giulia G; Sancho, Javier J; Serrano, Luis L; García-Pavía, Pablo P; Monserrat, Lorenzo L; Alegre-Cebollada, Jorge J
Analysis of Contractile Function of Permeabilized Human Hypertrophic Cardiomyopathy Multicellular Heart Tissue.
Frontiers In Physiology
Kresin, Nico N; Stücker, Sabrina S; Krämer, Elisabeth E; Flenner, Frederik F; Mearini, Giulia G; Münch, Julia J; Patten, Monica M; Redwood, Charles C; Carrier, Lucie L; Friedrich, Felix W FW
Publication Date: 2019
Variant appearance in text: MYBPC3: 1960C>T; Arg654Cys
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: MYBPC3: 1960C>T; Arg654Cys; rs397515939
Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.
Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21
Variant appearance in text: MYBPC3: 1960C>T; R654C; rs397515939