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: 4609C>T; Gln1537Ter

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 and breast cancer risk in Japanese women: The HERPACC study.

Cancer Science

Kasugai, Yumiko Y; Kohmoto, Tomohiro T; Taniyama, Yukari Y; Koyanagi, Yuriko N YN; Usui, Yoshiaki Y; Iwase, Madoka M; Oze, Isao I; Yamaguchi, Rui R; Ito, Hidemi H; Imoto, Issei I; Matsuo, Keitaro K

Publication Date: 2022-04

Variant appearance in text: ATM: Q1537*

PubMed Link: 35218119

Variant Present in the following documents:

• CAS-113-1451-s001.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: 4609C>T; Gln1537Ter

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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Favorable impact of allogeneic stem cell transplantation in patients with therapy-related myelodysplasia regardless of TP53 mutational status.

Haematologica

Aldoss, Ibrahim I; Pham, Anh A; Li, Sierra Min SM; Gendzekhadze, Ketevan K; Afkhami, Michelle M; Telatar, Milhan M; Hong, Hao H; Padeganeh, Abbas A; Bedell, Victoria V; Cao, Thai T; Khaled, Samer K SK; Malki, Monzr M Al MMA; Salhotra, Amandeep A; Ali, Haris H; Aribi, Ahmed A; Palmer, Joycelynne J; Aoun, Patricia P; Spielberger, Ricardo R; Stein, Anthony S AS; Snyder, David D; O'Donnell, Margaret R MR; Murata-Collins, Joyce J; Senitzer, David D; Weisenburger, Dennis D; Forman, Stephen J SJ; Pullarkat, Vinod V; Marcucci, Guido G; Pillai, Raju R; Nakamura, Ryotaro R

Publication Date: 2017-12

Variant appearance in text: ATM: 4609C>T

PubMed Link: 28971906

Variant Present in the following documents:

• 2017.172544.ALDOSS_SUPPL.pdf

View BVdb publication page

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Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports

Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA

Publication Date: 2016-04-26

Variant appearance in text: ATM: Q1537*

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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A Low Frequency of Losses in 11q Chromosome Is Associated with Better Outcome and Lower Rate of Genomic Mutations in Patients with Chronic Lymphocytic Leukemia.

Plos One

Hernández, José Ángel JÁ; Hernández-Sánchez, María M; Rodríguez-Vicente, Ana Eugenia AE; Grossmann, Vera V; Collado, Rosa R; Heras, Cecilia C; Puiggros, Anna A; Martín, Ana África AÁ; Puig, Noemí N; Benito, Rocío R; Robledo, Cristina C; Delgado, Julio J; González, Teresa T; Queizán, José Antonio JA; Galende, Josefina J; de la Fuente, Ignacio I; Martín-Núñez, Guillermo G; Alonso, José María JM; Abrisqueta, Pau P; Luño, Elisa E; Marugán, Isabel I; González-Gascón, Isabel I; Bosch, Francesc F; Kohlmann, Alexander A; González, Marcos M; Espinet, Blanca B; Hernández-Rivas, Jesús María JM; ,

Publication Date: 2015

Variant appearance in text: ATM: 4609C>T; Gln1537X

PubMed Link: 26630574

Variant Present in the following documents:

• Main text
• pone.0143073.pdf

View BVdb publication page

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