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: MSH6: 2805_2806del; Asp936fs

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: MSH6: 2805_2806delTG; Asp936Leufs; rs863225403

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

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Clinical Challenges Associated with Universal Screening for Lynch Syndrome-Associated Endometrial Cancer.

Cancer Prevention Research (Philadelphia, Pa.)

Bruegl, Amanda S AS; Ring, Kari L KL; Daniels, Molly M; Fellman, Bryan M BM; Urbauer, Diana L DL; Broaddus, Russell R RR

Publication Date: 2017-02

Variant appearance in text: MSH6: 2805_2806delTG

PubMed Link: 27965287

Variant Present in the following documents:

• Main text

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Consequences of universal MSI/IHC in screening ENDOMETRIAL cancer patients for Lynch syndrome.

Gynecologic Oncology

Batte, Brittany A L BA; Bruegl, Amanda S AS; Daniels, Molly S MS; Ring, Kari L KL; Dempsey, Katherine M KM; Djordjevic, Bojana B; Luthra, Rajyalakshmi R; Fellman, Bryan M BM; Lu, Karen H KH; Broaddus, Russell R RR

Publication Date: 2014-08

Variant appearance in text: N/A

PubMed Link: 24933100

Variant Present in the following documents:

View BVdb publication page