Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: MYBPC3: 1156G>T; Glu386Ter
Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in TNNI3 and TNNT2 That Are Common in Chinese Patients.
Circulation. Genomic And Precision Medicine
Pua, Chee Jian CJ; Tham, Nevin N; Chin, Calvin W L CWL; Walsh, Roddy R; Khor, Chiea Chuen CC; Toepfer, Christopher N CN; Repetti, Giuliana G GG; Garfinkel, Amanda C AC; Ewoldt, Jourdan F JF; Cloonan, Paige P; Chen, Christopher S CS; Lim, Shi Qi SQ; Cai, Jiashen J; Loo, Li Yang LY; Kong, Siew Ching SC; Chiang, Charleston W K CWK; Whiffin, Nicola N; de Marvao, Antonio A; Lio, Pei Min PM; Hii, An An AA; Yang, Cheng Xi CX; Le, Thu Thao TT; Bylstra, Yasmin Y; Lim, Weng Khong WK; Teo, Jing Xian JX; Padilha, Kallyandra K; Silva, Gabriela V GV; Pan, Bangfen B; Govind, Risha R; Buchan, Rachel J RJ; Barton, Paul J R PJR; Tan, Patrick P; Foo, Roger R; Yip, James W L JWL; Wong, Raymond C C RCC; Chan, Wan Xian WX; Pereira, Alexandre C AC; Tang, Hak Chiaw HC; Jamuar, Saumya Shekhar SS; Ware, James S JS; Seidman, Jonathan G JG; Seidman, Christine E CE; Cook, Stuart A SA
Publication Date: 2020-10
Variant appearance in text: MYBPC3: 1156G>T; E386X
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: 1156G>T; Glu386Ter
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.
Plos One
Mademont-Soler, Irene I; Mates, Jesus J; Yotti, Raquel R; Espinosa, Maria Angeles MA; Pérez-Serra, Alexandra A; Fernandez-Avila, Ana Isabel AI; Coll, Monica M; Méndez, Irene I; Iglesias, Anna A; Del Olmo, Bernat B; Riuró, Helena H; Cuenca, Sofía S; Allegue, Catarina C; Campuzano, Oscar O; Picó, Ferran F; Ferrer-Costa, Carles C; Álvarez, Patricia P; Castillo, Sergio S; Garcia-Pavia, Pablo P; Gonzalez-Lopez, Esther E; Padron-Barthe, Laura L; Díaz de Bustamante, Aranzazu A; Darnaude, María Teresa MT; González-Hevia, José Ignacio JI; Brugada, Josep J; Fernandez-Aviles, Francisco F; Brugada, Ramon R
Publication Date: 2017
Variant appearance in text: MYBPC3: 1156G>T; E386*; rs397515888