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: 850C>T; Gln284Ter

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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Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Life Science Alliance

Qin, Zixin Z; Huang, Teng T; Guo, Maoni M; Wang, San Ming SM

Publication Date: 2022-09

Variant appearance in text: ATM: 850C>T; Gln284Ter; rs757782702

PubMed Link: 35595529

Variant Present in the following documents:

• LSA-2021-01319_TableS1.xlsx, sheet 1
• LSA-2021-01319_TableS3.xlsx, sheet 1

View BVdb publication page

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A DNA Damage Response Gene Panel for Different Histologic Types of Epithelial Ovarian Carcinomas and Their Outcomes.

Biomedicines

Chiang, Ying-Cheng YC; Lin, Po-Han PH; Lu, Tzu-Pin TP; Kuo, Kuan-Ting KT; Tai, Yi-Jou YJ; Hsu, Heng-Cheng HC; Wu, Chia-Ying CY; Lee, Chia-Yi CY; Shen, Hung H; Chen, Chi-An CA; Cheng, Wen-Fang WF

Publication Date: 2021-10-03

Variant appearance in text: ATM: Q284X; rs757782702

PubMed Link: 34680501

Variant Present in the following documents:

• Main text
• biomedicines-09-01384.pdf

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: 850C>T; Gln284Ter; rs757782702

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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Histomorphology of pancreatic cancer in patients with inherited ATM serine/threonine kinase pathogenic variants.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Hutchings, Danielle D; Jiang, Zhengdong Z; Skaro, Michael M; Weiss, Matthew J MJ; Wolfgang, Christopher L CL; Makary, Martin A MA; He, Jin J; Cameron, John L JL; Zheng, Lei L; Klimstra, David S DS; Brand, Randall E RE; Singhi, Aatur D AD; Goggins, Michael M; Klein, Alison P AP; Roberts, Nicholas J NJ; Hruban, Ralph H RH

Publication Date: 2019-12

Variant appearance in text: ATM: Gln284Ter

PubMed Link: 31285527

Variant Present in the following documents:

• Main text

View BVdb publication page

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Differential Response to Olaparib Treatment Among Men with Metastatic Castration-resistant Prostate Cancer Harboring BRCA1 or BRCA2 Versus ATM Mutations.

European Urology

Marshall, Catherine H CH; Sokolova, Alexandra O AO; McNatty, Andrea L AL; Cheng, Heather H HH; Eisenberger, Mario A MA; Bryce, Alan H AH; Schweizer, Michael T MT; Antonarakis, Emmanuel S ES

Publication Date: 2019-10

Variant appearance in text: ATM: Q284X

PubMed Link: 30797618

Variant Present in the following documents:

• Main text

View BVdb publication page

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Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature Neuroscience

Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA

Publication Date: 2016-11

Variant appearance in text: ATM: 850C>T; Gln284*

PubMed Link: 27694994

Variant Present in the following documents:

• NIHMS815183-supplement-supp_table3.xlsx, sheet 1

View BVdb publication page

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Integrated genomic sequencing reveals mutational landscape of T-cell prolymphocytic leukemia.

Blood

Kiel, Mark J MJ; Velusamy, Thirunavukkarasu T; Rolland, Delphine D; Sahasrabuddhe, Anagh A AA; Chung, Fuzon F; Bailey, Nathanael G NG; Schrader, Alexandra A; Li, Bo B; Li, Jun Z JZ; Ozel, Ayse B AB; Betz, Bryan L BL; Miranda, Roberto N RN; Medeiros, L Jeffrey LJ; Zhao, Lili L; Herling, Marco M; Lim, Megan S MS; Elenitoba-Johnson, Kojo S J KS

Publication Date: 2014-08-28

Variant appearance in text: ATM: Q284X

PubMed Link: 24825865

Variant Present in the following documents:

• Main text

View BVdb publication page

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