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>A; 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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Predictive mutation signature of immunotherapy benefits in NSCLC based on machine learning algorithms.

Frontiers In Immunology

Liu, Zhichao Z; Lin, Guo G; Yan, Zeping Z; Li, Linduo L; Wu, Xingchen X; Shi, Jingrong J; He, Jianxing J; Zhao, Lei L; Liang, Hengrui H; Wang, Wei W

Publication Date: 2022

Variant appearance in text: ATM: 2877C>A; Y959*

PubMed Link: 36238300

Variant Present in the following documents:

• Table_1.xlsx, sheet 4

View BVdb publication page

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EPHA5 mutation was associated with adverse outcome of atezolizumab treatment in late-stage non-small cell lung cancers.

Bmc Pulmonary Medicine

Li, Zhenxiang Z; Zhou, Qing Q; Wang, Qi Q; Wang, Haiyong H; Yue, Weiming W

Publication Date: 2022-09-19

Variant appearance in text: ATM: 2877C>A; Y959*

PubMed Link: 36123678

Variant Present in the following documents:

• 12890_2022_2161_MOESM2_ESM.xlsx, sheet 1

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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Hereditary Predisposition to Prostate Cancer: From Genetics to Clinical Implications.

International Journal Of Molecular Sciences

Brandão, Andreia A; Paulo, Paula P; Teixeira, Manuel R MR

Publication Date: 2020-07-16

Variant appearance in text: ATM: 2877C>A

PubMed Link: 32708810

Variant Present in the following documents:

• ijms-21-05036-s001.pdf

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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