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: 2877C>G; Tyr959Ter

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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Association between germline pathogenic variants in cancer-predisposing genes and lymphoma risk.

Cancer Science

Usui, Yoshiaki Y; Iwasaki, Yusuke Y; Matsuo, Keitaro K; Endo, Mikiko M; Kamatani, Yoichiro Y; Hirata, Makoto M; Sugano, Kokichi K; Yoshida, Teruhiko T; Matsuda, Koichi K; Murakami, Yoshinori Y; Maeda, Yoshinobu Y; Nakagawa, Hidewaki H; Momozawa, Yukihide Y

Publication Date: 2022-11

Variant appearance in text: ATM: 2877C>G; Tyr959*

PubMed Link: 36065483

Variant Present in the following documents:

• CAS-113-3972-s007.pdf

View BVdb publication page

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Germline variants in UNC13D and AP3B1 are enriched in COVID-19 patients experiencing severe cytokine storms.

European Journal Of Human Genetics : Ejhg

Luo, Hui H; Liu, Dan D; Liu, Wenbing W; Wang, Gaoxiang G; Chen, Liting L; Cao, Yang Y; Wei, Jia J; Xiao, Min M; Liu, Xin X; Huang, Gang G; Wang, Wei W; Zhou, Jianfeng J; Wang, Qian-Fei QF

Publication Date: 2021-08

Variant appearance in text: ATM: 2877C>G; Tyr959X

PubMed Link: 33867526

Variant Present in the following documents:

• 41431_2021_886_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Impact of DNA damage repair defects and aggressive variant features on response to carboplatin-based chemotherapy in metastatic castration-resistant prostate cancer.

International Journal Of Cancer

Slootbeek, Peter H J PHJ; Duizer, Marleen L ML; van der Doelen, Maarten J MJ; Kloots, Iris S H ISH; Kuppen, Malou C P MCP; Westgeest, Hans M HM; Uyl-de Groot, Carin A CA; Pamidimarri Naga, Samhita S; Ligtenberg, Marjolijn J L MJL; van Oort, Inge M IM; Gerritsen, Winald R WR; Schalken, Jack A JA; Kroeze, Leonie I LI; Bloemendal, Haiko J HJ; Mehra, Niven N

Publication Date: 2021-01-15

Variant appearance in text: ATM: Y959*

PubMed Link: 32965028

Variant Present in the following documents:

• IJC-148-385-s001.pdf

View BVdb publication page

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Platinum-Based Chemotherapy in Metastatic Prostate Cancer With DNA Repair Gene Alterations.

Jco Precision Oncology

Mota, Jose Mauricio JM; Barnett, Ethan E; Nauseef, Jones T JT; Nguyen, Bastien B; Stopsack, Konrad H KH; Wibmer, Andreas A; Flynn, Jessica R JR; Heller, Glenn G; Danila, Daniel C DC; Rathkopf, Dana D; Slovin, Susan S; Kantoff, Philip W PW; Scher, Howard I HI; Morris, Michael J MJ; Schultz, Nikolaus N; Solit, David B DB; Abida, Wassim W

Publication Date: 2020

Variant appearance in text: ATM: Y959*

PubMed Link: 32856010

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical impact of the subclonal architecture and mutational complexity in chronic lymphocytic leukemia.

Leukemia

Nadeu, F F; Clot, G G; Delgado, J J; Martín-García, D D; Baumann, T T; Salaverria, I I; Beà, S S; Pinyol, M M; Jares, P P; Navarro, A A; Suárez-Cisneros, H H; Aymerich, M M; Rozman, M M; Villamor, N N; Colomer, D D; González, M M; Alcoceba, M M; Terol, M J MJ; Navarro, B B; Colado, E E; Payer, Á R ÁR; Puente, X S XS; López-Otín, C C; López-Guillermo, A A; Enjuanes, A A; Campo, E E

Publication Date: 2018-03

Variant appearance in text: ATM: Y959*

PubMed Link: 28924241

Variant Present in the following documents:

• leu2017291x4.xlsx, sheet 1

View BVdb publication page

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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: 2877C>G; Tyr959*

PubMed Link: 27304073

Variant Present in the following documents:

• elife-14709-supp1.xlsx, sheet 1

View BVdb publication page

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