Publications:

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: CREBBP: 5188A>G; Ile1730Val

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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; ,

Publication Date: 2022-12-01

Variant appearance in text: CREBBP: I1730V; rs1159294530

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Genetic Basis of Extramedullary Plasmablastic Transformation of Multiple Myeloma.

The American Journal Of Surgical Pathology

Liu, Ying Y; Jelloul, Fatima F; Zhang, Yanming Y; Bhavsar, Tapan T; Ho, Caleb C; Rao, Mamta M; Lewis, Natasha E NE; Cimera, Robert R; Baik, Jeeyeon J; Sigler, Allison A; Sen, Filiz F; Yabe, Mariko M; Roshal, Mikhail M; Landgren, Ola O; Dogan, Ahmet A; Xiao, Wenbin W

Publication Date: 2020-06

Variant appearance in text: CREBBP: I1730V

PubMed Link: 32118627

Variant Present in the following documents:

• Main text

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