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: ATM: 3381_3384del; Gln1128fs

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: ATM: 3381_3384delTCAG

PubMed Link: 34253785

Variant Present in the following documents:

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

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Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.

Elife

Yamamoto, Kenta K; Wang, Jiguang J; Sprinzen, Lisa L; Xu, Jun J; Haddock, Christopher J CJ; Li, Chen C; Lee, Brian J BJ; Loredan, Denis G DG; Jiang, Wenxia W; Vindigni, Alessandro A; Wang, Dong D; Rabadan, Raul R; Zha, Shan S

Publication Date: 2016-06-15

Variant appearance in text: ATM: 3381_3384delTCAG; Gln1128fs

PubMed Link: 27304073

Variant Present in the following documents:

• elife-14709-supp1.xlsx, sheet 1

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Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Tung, Nadine N; Lin, Nancy U NU; Kidd, John J; Allen, Brian A BA; Singh, Nanda N; Wenstrup, Richard J RJ; Hartman, Anne-Renee AR; Winer, Eric P EP; Garber, Judy E JE

Publication Date: 2016-05-01

Variant appearance in text: ATM: 3381_3384del; Gln1128Lysfs*3

PubMed Link: 26976419

Variant Present in the following documents:

• Main text

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