Publications:

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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: MLH1: 143A>C; Gln48Pro

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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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: MLH1: 143A>C; Q48P; rs587778914

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Identification of MLH2/hPMS1 dominant mutations that prevent DNA mismatch repair function.

Communications Biology

Reyes, Gloria X GX; Zhao, Boyu B; Schmidt, Tobias T TT; Gries, Kerstin K; Kloor, Matthias M; Hombauer, Hans H

Publication Date: 2020-12-10

Variant appearance in text: MLH1: Q48P

PubMed Link: 33303966

Variant Present in the following documents:

• Main text
• 42003_2020_Article_1481.pdf

View BVdb publication page

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Identification of Novel Pathogenic Sequence Variants of the Mismatch Repair Genes During Screening for Lynch Syndrome in a Single Centre of Eastern Hungary.

Journal Of Gastrointestinal Cancer

Kóder, Gergely G; Olasz, Judit J; Tanyi, Janos L JL; George, Erin E; Tóth, László L; Antal-Szalmás, Péter P; Nagy, Béla B; Bubán, Tamás T; András, Csilla C; Urbancsek, Hilda H; Laczik, Miklós M; Csuka, Orsolya O; Damjanovich, László L; Tanyi, Miklós M

Publication Date: 2020-09

Variant appearance in text: MLH1: Q48P

PubMed Link: 31939059

Variant Present in the following documents:

• Main text
• 12029_2020_Article_359.pdf

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: MLH1: 143A>C; Q48P

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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A Bayesian framework for efficient and accurate variant prediction.

Plos One

Qian, Dajun D; Li, Shuwei S; Tian, Yuan Y; Clifford, Jacob W JW; Sarver, Brice A J BAJ; Pesaran, Tina T; Gau, Chia-Ling CL; Elliott, Aaron M AM; Lu, Hsiao-Mei HM; Black, Mary Helen MH

Publication Date: 2018

Variant appearance in text: MLH1: 143A>C; Q48P

PubMed Link: 30212499

Variant Present in the following documents:

• pone.0203553.s008.xlsx, sheet 2

View BVdb publication page

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