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: 557T>G; Leu186Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology

Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W

Publication Date: 2022

Variant appearance in text: ATM: L186X

PubMed Link: 36072793

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

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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: 557T>G; L186X

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

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Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling.

Embo Molecular Medicine

Bosakova, Michaela M; Abraham, Sara P SP; Nita, Alexandru A; Hruba, Eva E; Buchtova, Marcela M; Taylor, S Paige SP; Duran, Ivan I; Martin, Jorge J; Svozilova, Katerina K; Barta, Tomas T; Varecha, Miroslav M; Balek, Lukas L; Kohoutek, Jiri J; Radaszkiewicz, Tomasz T; Pusapati, Ganesh V GV; Bryja, Vitezslav V; Rush, Eric T ET; Thiffault, Isabelle I; Nickerson, Deborah A DA; Bamshad, Michael J MJ; , ; Rohatgi, Rajat R; Cohn, Daniel H DH; Krakow, Deborah D; Krejci, Pavel P

Publication Date: 2020-11-06

Variant appearance in text: ATD: L186*

PubMed Link: 33200460

Variant Present in the following documents:

• Main text

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Pathogenic ATM Mutations in Cancer and a Genetic Basis for Radiotherapeutic Efficacy.

Journal Of The National Cancer Institute

Pitter, Kenneth L KL; Casey, Dana L DL; Lu, Yue C YC; Hannum, Margaret M; Zhang, Zhigang Z; Song, Xinmao X; Pecorari, Isabella I; McMillan, Biko B; Ma, Jennifer J; Samstein, Robert M RM; Pei, Isaac X IX; Khan, Atif J AJ; Braunstein, Lior Z LZ; Morris, Luc G T LGT; Barker, Christopher A CA; Rimner, Andreas A; Alektiar, Kaled M KM; Romesser, Paul B PB; Crane, Christopher H CH; Yahalom, Joachim J; Zelefsky, Michael J MJ; Scher, Howard I HI; Bernstein, Jonine L JL; Mandelker, Diana L DL; Weigelt, Britta B; Reis-Filho, Jorge S JS; Lee, Nancy Y NY; Powell, Simon N SN; Chan, Timothy A TA; Riaz, Nadeem N; Setton, Jeremy J

Publication Date: 2021-03-01

Variant appearance in text: ATM: L186*

PubMed Link: 32726432

Variant Present in the following documents:

• Main text

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