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: ATM: 7985T>A; Val2662Asp

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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Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.

Bjui Compass

Mian, Abrar A; Wei, Jun J; Shi, Zhuqing Z; Rifkin, Andrew S AS; Zheng, S Lilly SL; Glaser, Alexander P AP; Kearns, James T JT; Helfand, Brian T BT; Xu, Jianfeng J

Publication Date: 2023-03

Variant appearance in text: ATM: V2662D

PubMed Link: 36816149

Variant Present in the following documents:

• BCO2-4-156-s001.xlsx, sheet 1

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: ATM: 7985T>A; V2662D; rs863224463

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

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: ATM: 7985T>A; V2662D

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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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: ATM: V2662D

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Genetics and genomic medicine in Mali: challenges and future perspectives.

Molecular Genetics & Genomic Medicine

Landouré, Guida G; Samassékou, Oumar O; Traoré, Mahamadou M; Meilleur, Katherine G KG; Guinto, Cheick Oumar CO; Burnett, Barrington G BG; Sumner, Charlotte J CJ; Fischbeck, Kenneth H KH

Publication Date: 2016-03

Variant appearance in text: ATM: 7985T>A; Val2662Asp

PubMed Link: 27066513

Variant Present in the following documents:

• Main text
• MGG3-4-126.pdf

View BVdb publication page

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Novel mutation in the ATM gene in a Malian family with ataxia telangiectasia.

Journal Of Neurology

Landouré, Guida G; Mochel, Fanny F; Meilleur, Katherine K; Ly, Madani M; Sangaré, Modibo M; Bocoum, Nouhoum N; Bagayoko, Koumba K; Coulibaly, Thomas T; Sarr, Amadou M AM; Bâ, Hamidou O HO; Coulibaly, Souleymane S; Guinto, Cheick O CO; Touré, Mahamadou M; Traoré, Moussa M; Fischbeck, Kenneth H KH

Publication Date: 2013-01

Variant appearance in text: ATM: 7985T>A

PubMed Link: 23142947

Variant Present in the following documents:

• Main text

View BVdb publication page

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