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: KMT2D: 9602dup; Ser3202fs
Genetic analysis of CHARGE syndrome identifies overlapping molecular biology.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Moccia, Amanda A; Srivastava, Anshika A; Skidmore, Jennifer M JM; Bernat, John A JA; Wheeler, Marsha M; Chong, Jessica X JX; Nickerson, Deborah D; Bamshad, Michael M; Hefner, Margaret A MA; Martin, Donna M DM; Bielas, Stephanie L SL
Publication Date: 2018-09
Variant appearance in text: KMT2D: 9602dupT; Ser3202Glufs*13