Publications:

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Spectrum of High-Risk Mutations among Breast Cancer Patients Referred for Multigene Panel Testing in a Romanian Population.

Cancers

Goidescu, Iulian Gabriel IG; Nemeti, Georgiana G; Surcel, Mihai M; Caracostea, Gabriela G; Florian, Andreea Roxana AR; Cruciat, Gheorghe G; Staicu, Adelina A; Muresan, Daniel D; Goidescu, Cerasela C; Pintican, Roxana R; Eniu, Dan Tudor DT

Publication Date: 2023-03-22

Variant appearance in text: ATM: 5318delA

PubMed Link: 36980780

Variant Present in the following documents:

• Main text
• cancers-15-01895.pdf

View BVdb publication page

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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: 5318del; Lys1773fs

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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Identifying Phased Mutations and Complex Rearrangements in Human Prostate Cancer Cell Lines through Linked-Read Whole-Genome Sequencing.

Molecular Cancer Research : Mcr

Pham, Minh-Tam MT; Gupta, Anuj A; Gupta, Harshath H; Vaghasia, Ajay A; Skaist, Alyza A; Garrison, McKinzie A MA; Coulter, Jonathan B JB; Haffner, Michael C MC; Zheng, S Lilly SL; Xu, Jianfeng J; DeStefano Shields, Christina C; Isaacs, William B WB; Wheelan, Sarah J SJ; Nelson, William G WG; Yegnasubramanian, Srinivasan S

Publication Date: 2022-07-06

Variant appearance in text: ATM: 5318del; K1773Sfs*3

PubMed Link: 35452513

Variant Present in the following documents:

• mcr-21-0683_supplementary_tables_1-13_suppst1-13.xlsx, sheet 6
• mcr-21-0683_supplementary_tables_1-13_suppst1-13.xlsx, sheet 7

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: 5318delA; Lys1773Serfs

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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Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups.

Bmc Medical Genomics

Miller, Eirwen M EM; Patterson, Nicole E NE; Gressel, Gregory M GM; Karabakhtsian, Rouzan G RG; Bejerano-Sagie, Michal M; Ravi, Nivedita N; Maslov, Alexander A; Quispe-Tintaya, Wilber W; Wang, Tao T; Lin, Juan J; Smith, Harriet O HO; Goldberg, Gary L GL; Kuo, Dennis Y S DYS; Montagna, Cristina C

Publication Date: 2020-11-30

Variant appearance in text: ATM: 5313_5313delA; Lys1773fs

PubMed Link: 33256706

Variant Present in the following documents:

• 12920_2020_824_MOESM7_ESM.xlsx, sheet 1
• 12920_2020_824_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Using next-generation sequencing to redefine BRCAness in triple-negative breast cancer.

Cancer Science

Lin, Po-Han PH; Chen, Ming M; Tsai, Li-Wei LW; Lo, Chiao C; Yen, Tzu-Chun TC; Huang, Thomas Yoyan TY; Chen, Chih-Kai CK; Fan, Sheng-Chih SC; Kuo, Sung-Hsin SH; Huang, Chiun-Sheng CS

Publication Date: 2020-04

Variant appearance in text: ATM: 5313delA

PubMed Link: 31958182

Variant Present in the following documents:

• Main text
• CAS-111-1375.pdf

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: ATM: 5313delA

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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