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: 3609del

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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Prevalence of Germline Sequence Variations Among Patients With Pancreatic Cancer in China.

Jama Network Open

Yin, Lingdi L; Wei, Jishu J; Lu, Zipeng Z; Huang, Shimeng S; Gao, Hao H; Chen, Jianmin J; Guo, Feng F; Tu, Min M; Xiao, Bin B; Xi, Chunhua C; Zhang, Kai K; Li, Qiang Q; Wu, Junli J; Gao, Wentao W; Jiang, Kuirong K; Yu, Jun J; Miao, Yi Y

Publication Date: 2022-02-01

Variant appearance in text: ATM: 3609delT; Tyr1203Ter

PubMed Link: 35171259

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prevalence of Germline Sequence Variations Among Patients With Pancreatic Cancer in China.

Jama Network Open

Yin, Lingdi L; Wei, Jishu J; Lu, Zipeng Z; Huang, Shimeng S; Gao, Hao H; Chen, Jianmin J; Guo, Feng F; Tu, Min M; Xiao, Bin B; Xi, Chunhua C; Zhang, Kai K; Li, Qiang Q; Wu, Junli J; Gao, Wentao W; Jiang, Kuirong K; Yu, Jun J; Miao, Yi Y

Publication Date: 2022-02-01

Variant appearance in text: ATM: 3609delT; Tyr1203Ter

PubMed Link: 35171259

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comprehensive characterization of CRC with germline mutations reveals a distinct somatic mutational landscape and elevated cancer risk in the Chinese population.

Cancer Biology & Medicine

Yao, Jianfei J; Zhen, Yunhuan Y; Fan, Jing J; Gong, Yuan Y; Ye, Yumeng Y; Guo, Shaohua S; Liu, Hongyi H; Li, Xiaoyun X; Li, Guosheng G; Yang, Pan P; Wang, Xiaohui X; Liu, Danni D; Huang, Tanxiao T; Cao, Huiya H; Suo, Peisu P; Li, Yuemin Y; Yu, Jingbo J; Song, Lele L

Publication Date: 2022-01-12

Variant appearance in text: ATM: 3609delT

PubMed Link: 35014770

Variant Present in the following documents:

• Main text
• cbm-19-707.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: 3609delT; Tyr1203Terfs

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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Niraparib as Maintenance Therapy in Germline ATM-mutated and Somatic BRCA2-mutated Ovarian Cancer with Brain Metastases: A Case Report and Literature Review.

Oncotargets And Therapy

Tao, Mengyu M; Cheng, Jiejun J; Wu, Xia X

Publication Date: 2020

Variant appearance in text: ATM: 3609del; Y1203*

PubMed Link: 33376347

Variant Present in the following documents:

• Main text
• ott-13-12979.pdf

View BVdb publication page

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Prevalence of deleterious ATM germline mutations in gastric cancer patients.

Oncotarget

Huang, Dong-Sheng DS; Tao, Hou-Quan HQ; He, Xu-Jun XJ; Long, Ming M; Yu, Sheng S; Xia, Ying-Jie YJ; Wei, Zhang Z; Xiong, Zikai Z; Jones, Sian S; He, Yiping Y; Yan, Hai H; Wang, Xiaoyue X

Publication Date: 2015-12-01

Variant appearance in text: ATM: 3609delT; Y1203fs

PubMed Link: 26506520

Variant Present in the following documents:

• Main text
• oncotarget-06-40953-s001.pdf
• oncotarget-06-40953.pdf

View BVdb publication page

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