Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.
Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.
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
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: 1468G>C; Gly490Arg
Hypertrophy Regression With N-Acetylcysteine in Hypertrophic Cardiomyopathy (HALT-HCM): A Randomized, Placebo-Controlled, Double-Blind Pilot Study.
Circulation Research
Marian, Ali J AJ; Tan, Yanli Y; Li, Lili L; Chang, Jeffrey J; Syrris, Petros P; Hessabi, Manouchehr M; Rahbar, Mohammad H MH; Willerson, James T JT; Cheong, Benjamin Y BY; Liu, Chia-Ying CY; Kleiman, Neal S NS; Bluemke, David A DA; Nagueh, Sherif F SF
Actionable, pathogenic incidental findings in 1,000 participants' exomes.
American Journal Of Human Genetics
Dorschner, Michael O MO; Amendola, Laura M LM; Turner, Emily H EH; Robertson, Peggy D PD; Shirts, Brian H BH; Gallego, Carlos J CJ; Bennett, Robin L RL; Jones, Kelly L KL; Tokita, Mari J MJ; Bennett, James T JT; Kim, Jerry H JH; Rosenthal, Elisabeth A EA; Kim, Daniel S DS; , ; Tabor, Holly K HK; Bamshad, Michael J MJ; Motulsky, Arno G AG; Scott, C Ronald CR; Pritchard, Colin C CC; Walsh, Tom T; Burke, Wylie W; Raskind, Wendy H WH; Byers, Peter P; Hisama, Fuki M FM; Nickerson, Deborah A DA; Jarvik, Gail P GP
Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.
Circulation. Cardiovascular Genetics
Norton, Nadine N; Robertson, Peggy D PD; Rieder, Mark J MJ; Züchner, Stephan S; Rampersaud, Evadnie E; Martin, Eden E; Li, Duanxiang D; Nickerson, Deborah A DA; Hershberger, Ray E RE; ,
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
Shared genetic causes of cardiac hypertrophy in children and adults.
The New England Journal Of Medicine
Morita, Hiroyuki H; Rehm, Heidi L HL; Menesses, Andres A; McDonough, Barbara B; Roberts, Amy E AE; Kucherlapati, Raju R; Towbin, Jeffrey A JA; Seidman, J G JG; Seidman, Christine E CE