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: ATM: 3693_3697del; Leu1231fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: ATM: 3693_3697delATCTT; Leu1231Phefs

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

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Thai patients who fulfilled NCCN criteria for breast/ovarian cancer genetic assessment demonstrated high prevalence of germline mutations in cancer susceptibility genes: implication to Asian population testing.

Breast Cancer Research And Treatment

Lertwilaiwittaya, Pongtawat P; Roothumnong, Ekkapong E; Nakthong, Panee P; Dungort, Peerawat P; Meesamarnpong, Chutima C; Tansa-Nga, Warisara W; Pongsuktavorn, Khontawan K; Wiboonthanasarn, Supakit S; Tititumjariya, Warunya W; Thongnoppakhun, Wanna W; Chanprasert, Sirisak S; Limwongse, Chanin C; Pithukpakorn, Manop M

Publication Date: 2021-07

Variant appearance in text: ATM: 3693_3697delATCTT; Leu1231Phefs*13

PubMed Link: 33649982

Variant Present in the following documents:

• Main text
• 10549_2021_Article_6152.pdf

View BVdb publication page