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: BRCA2: 8732C>A; Ala2911Glu
Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Hart, Steven N SN; Hoskin, Tanya T; Shimelis, Hermela H; Moore, Raymond M RM; Feng, Bingjian B; Thomas, Abigail A; Lindor, Noralane M NM; Polley, Eric C EC; Goldgar, David E DE; Iversen, Edwin E; Monteiro, Alvaro N A ANA; Suman, Vera J VJ; Couch, Fergus J FJ
A novel splice site mutation in the noncoding region of BRCA2: implications for Fanconi anemia and familial breast cancer diagnostics.
Human Mutation
Bakker, Janine L JL; Thirthagiri, Eswary E; van Mil, Saskia E SE; Adank, Muriel A MA; Ikeda, Hideyuki H; Verheul, Henk M W HM; Meijers-Heijboer, Hanne H; de Winter, Johan P JP; Sharan, Shyam K SK; Waisfisz, Quinten Q