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: NOTCH1: 578G>A; Gly193Asp
Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease.
Plos Genetics
Preuss, Christoph C; Capredon, Melanie M; Wünnemann, Florian F; Chetaille, Philippe P; Prince, Andrea A; Godard, Beatrice B; Leclerc, Severine S; Sobreira, Nara N; Ling, Hua H; Awadalla, Philip P; Thibeault, Maryse M; Khairy, Paul P; , ; Samuels, Mark E ME; Andelfinger, Gregor G