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: RYR1: 2505del; Pro836fs
Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region.
Frontiers In Genetics
Ramensky, Vasily E VE; Ershova, Alexandra I AI; Zaicenoka, Marija M; Kiseleva, Anna V AV; Zharikova, Anastasia A AA; Vyatkin, Yuri V YV; Sotnikova, Evgeniia A EA; Efimova, Irina A IA; Divashuk, Mikhail G MG; Kurilova, Olga V OV; Skirko, Olga P OP; Muromtseva, Galina A GA; Belova, Olga A OA; Rachkova, Svetlana A SA; Pokrovskaya, Maria S MS; Shalnova, Svetlana A SA; Meshkov, Alexey N AN; Drapkina, Oxana M OM
Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.
Cold Spring Harbor Molecular Case Studies
Miller, Cecelia R CR; Lee, Kristy K; Pfau, Ruthann B RB; Reshmi, Shalini C SC; Corsmeier, Donald J DJ; Hashimoto, Sayaka S; Dave-Wala, Ashita A; Jayaraman, Vijayakumar V; Koboldt, Daniel D; Matthews, Theodora T; Mouhlas, Danielle D; Stein, Maggie M; McKinney, Aimee A; Grossman, Tom T; Kelly, Benjamin J BJ; White, Peter P; Magrini, Vincent V; Wilson, Richard K RK; Mardis, Elaine R ER; Cottrell, Catherine E CE