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: 1110C>G; Tyr370Ter

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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Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Nature Genetics

Kar, Siddhartha P SP; Quiros, Pedro M PM; Gu, Muxin M; Jiang, Tao T; Mitchell, Jonathan J; Langdon, Ryan R; Iyer, Vivek V; Barcena, Clea C; Vijayabaskar, M S MS; Fabre, Margarete A MA; Carter, Paul P; Petrovski, Slavé S; Burgess, Stephen S; Vassiliou, George S GS

Publication Date: 2022-08

Variant appearance in text: ATM: Y370*

PubMed Link: 35835912

Variant Present in the following documents:

• 41588_2022_1121_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

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Durvalumab Plus Olaparib in Previously Untreated, Platinum-Ineligible Patients With Metastatic Urothelial Carcinoma: A Multicenter, Randomized, Phase II Trial (BAYOU).

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Rosenberg, Jonathan E JE; Park, Se Hoon SH; Kozlov, Vadim V; Dao, Tu V TV; Castellano, Daniel D; Li, Jian-Ri JR; Mukherjee, Som D SD; Howells, Kathryn K; Dry, Hannah H; Lanasa, Mark C MC; Stewart, Ross R; Bajorin, Dean F DF

Publication Date: 2022-06-23

Variant appearance in text: ATM: Y370*

PubMed Link: 35737919

Variant Present in the following documents:

• jco-41-043.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: 1110C>G; Y370X; rs376170600

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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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: ATM: 1110C>G; Tyr370*; rs376170600

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Prevalence and properties of intragenic copy-number variation in Mendelian disease genes.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Truty, Rebecca R; Paul, Joshua J; Kennemer, Michael M; Lincoln, Stephen E SE; Olivares, Eric E; Nussbaum, Robert L RL; Aradhya, Swaroop S

Publication Date: 2019-01

Variant appearance in text: ATM: 1110C>G

PubMed Link: 29895855

Variant Present in the following documents:

• 41436_2018_33_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: ATM: 1110C>G; Tyr370Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Experience with precision genomics and tumor board, indicates frequent target identification, but barriers to delivery.

Oncotarget

Bryce, Alan H AH; Egan, Jan B JB; Borad, Mitesh J MJ; Stewart, A Keith AK; Nowakowski, Grzegorz S GS; Chanan-Khan, Asher A; Patnaik, Mrinal M MM; Ansell, Stephen M SM; Banck, Michaela S MS; Robinson, Steven I SI; Mansfield, Aaron S AS; Klee, Eric W EW; Oliver, Gavin R GR; McCormick, Jennifer B JB; Huneke, Norine E NE; Tagtow, Colleen M CM; Jenkins, Robert B RB; Rumilla, Kandelaria M KM; Kerr, Sarah E SE; Kocher, Jean-Pierre A JA; Beck, Scott A SA; Fernandez-Zapico, Martin E ME; Farrugia, Gianrico G; Lazaridis, Konstantinos N KN; McWilliams, Robert R RR

Publication Date: 2017-04-18

Variant appearance in text: ATM: Y370X

PubMed Link: 28423702

Variant Present in the following documents:

• Main text
• oncotarget-08-27145.pdf

View BVdb publication page

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Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

Plos One

LaDuca, Holly H; Farwell, Kelly D KD; Vuong, Huy H; Lu, Hsiao-Mei HM; Mu, Wenbo W; Shahmirzadi, Layla L; Tang, Sha S; Chen, Jefferey J; Bhide, Shruti S; Chao, Elizabeth C EC

Publication Date: 2017

Variant appearance in text: ATM: 1110C>G; Y370*

PubMed Link: 28152038

Variant Present in the following documents:

• pone.0170843.s004.xlsx, sheet 1
• pone.0170843.s003.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: 1110C>G; Tyr370*

PubMed Link: 27304073

Variant Present in the following documents:

• elife-14709-supp1.xlsx, sheet 1

View BVdb publication page

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