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: MSH2: 85A>T; Lys29Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Real-world outcome of universal screening for Lynch syndrome in Japanese patients with colorectal cancer highlights the importance of targeting patients with young-onset disease.

Molecular And Clinical Oncology

Yamada, Atsushi A; Matsuoka, Yui Y; Minamiguchi, Sachiko S; Yamamoto, Yoshihiro Y; Kondo, Tomohiro T; Sunami, Tomohiko T; Horimatsu, Takahiro T; Kawada, Kenji K; Seno, Hiroshi H; Torishima, Masako M; Murakami, Hiromi H; Yamada, Takahiro T; Kosugi, Shinji S; Sugano, Kokichi K; Muto, Manabu M

Publication Date: 2021-12

Variant appearance in text: MSH2: Lys29X

PubMed Link: 34712484

Variant Present in the following documents:

• Main text

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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: MSH2: 85A>T; Lys29Ter

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page