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: SMARCA4: 3469C>G; Arg1157Gly
Functional characterization of SMARCA4 variants identified by targeted exome-sequencing of 131,668 cancer patients.
Nature Communications
Fernando, Tharu M TM; Piskol, Robert R; Bainer, Russell R; Sokol, Ethan S ES; Trabucco, Sally E SE; Zhang, Qing Q; Trinh, Huong H; Maund, Sophia S; Kschonsak, Marc M; Chaudhuri, Subhra S; Modrusan, Zora Z; Januario, Thomas T; Yauch, Robert L RL
De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms.
American Journal Of Human Genetics
Weiss, Karin K; Terhal, Paulien A PA; Cohen, Lior L; Bruccoleri, Michael M; Irving, Melita M; Martinez, Ariel F AF; Rosenfeld, Jill A JA; Machol, Keren K; Yang, Yaping Y; Liu, Pengfei P; Walkiewicz, Magdalena M; Beuten, Joke J; Gomez-Ospina, Natalia N; Haude, Katrina K; Fong, Chin-To CT; Enns, Gregory M GM; Bernstein, Jonathan A JA; Fan, Judith J; Gotway, Garrett G; Ghorbani, Mohammad M; , ; van Gassen, Koen K; Monroe, Glen R GR; van Haaften, Gijs G; Basel-Vanagaite, Lina L; Yang, Xiang-Jiao XJ; Campeau, Philippe M PM; Muenke, Maximilian M