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: PTEN: 464A>C; Tyr155Ser
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Polymicrogyria is Associated With Pathogenic Variants in PTEN.
Annals Of Neurology
Shao, Diane D DD; Achkar, Christelle M CM; Lai, Abbe A; Srivastava, Siddharth S; Doan, Ryan N RN; Rodan, Lance H LH; Chen, Allen Y AY; , ; Poduri, Annapurna A; Yang, Edward E; Walsh, Christopher A CA
Publication Date: 2020-12
Variant appearance in text: PTEN: 464A>C; Tyr155Ser