Publications:

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Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications

White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C

Publication Date: 2022-09

Variant appearance in text: ATM: 8879G>A; W2960*; rs1131691149

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

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: 8879G>A; Trp2960Ter

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: W2960*

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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Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Bmc Medicine

Haverfield, Eden V EV; Esplin, Edward D ED; Aguilar, Sienna J SJ; Hatchell, Kathryn E KE; Ormond, Kelly E KE; Hanson-Kahn, Andrea A; Atwal, Paldeep S PS; Macklin-Mantia, Sarah S; Hines, Stephanie S; Sak, Caron W-M CW; Tucker, Steven S; Bleyl, Steven B SB; Hulick, Peter J PJ; Gordon, Ora K OK; Velsher, Lea L; Gu, Jessica Y J JYJ; Weissman, Scott M SM; Kruisselbrink, Teresa T; Abel, Christopher C; Kettles, Michele M; Slavotinek, Anne A; Mendelsohn, Bryce A BA; Green, Robert C RC; Aradhya, Swaroop S; Nussbaum, Robert L RL

Publication Date: 2021-08-18

Variant appearance in text: ATM: 8879G>A; Trp2960*

PubMed Link: 34404389

Variant Present in the following documents:

• 12916_2021_1999_MOESM2_ESM.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: 8879G>A; W2960X

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: 8879G>A; Trp2960*; rs1131691149

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Toward automation of germline variant curation in clinical cancer genetics.

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

Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J

Publication Date: 2019-09

Variant appearance in text: ATM: 8879G>A; Trp2960X

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 7

View BVdb publication page

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Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing.

European Journal Of Human Genetics : Ejhg

Vogelaar, Ingrid P IP; van der Post, Rachel S RS; van Krieken, J Han Jm JHJ; Spruijt, Liesbeth L; van Zelst-Stams, Wendy Ag WA; Kets, C Marleen CM; Lubinski, Jan J; Jakubowska, Anna A; Teodorczyk, Urszula U; Aalfs, Cora M CM; van Hest, Liselotte P LP; Pinheiro, Hugo H; Oliveira, Carla C; Jhangiani, Shalini N SN; Muzny, Donna M DM; Gibbs, Richard A RA; Lupski, James R JR; de Ligt, Joep J; Vissers, Lisenka E L M LELM; Hoischen, Alexander A; Gilissen, Christian C; van de Vorst, Maartje M; Goeman, Jelle J JJ; Schackert, Hans K HK; Ranzani, Guglielmina N GN; Molinaro, Valeria V; Gómez García, Encarna B EB; Hes, Frederik J FJ; Holinski-Feder, Elke E; Genuardi, Maurizio M; Ausems, Margreet G E M MGEM; Sijmons, Rolf H RH; Wagner, Anja A; van der Kolk, Lizet E LE; Bjørnevoll, Inga I; Høberg-Vetti, Hildegunn H; van Kessel, Ad Geurts AG; Kuiper, Roland P RP; Ligtenberg, Marjolijn J L MJL; Hoogerbrugge, Nicoline N

Publication Date: 2017-11

Variant appearance in text: ATM: 8879G>A; Trp2960*

PubMed Link: 28875981

Variant Present in the following documents:

• ejhg2017138x4.xlsx, sheet 1
• ejhg2017138x3.xlsx, sheet 1

View BVdb publication page

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A Pilot Study of Clinical Targeted Next Generation Sequencing for Prostate Cancer: Consequences for Treatment and Genetic Counseling.

The Prostate

Cheng, Heather H HH; Klemfuss, Nola N; Montgomery, Bruce B; Higano, Celestia S CS; Schweizer, Michael T MT; Mostaghel, Elahe A EA; McFerrin, Lisa G LG; Yu, Evan Y EY; Nelson, Peter S PS; Pritchard, Colin C CC

Publication Date: 2016-10

Variant appearance in text: ATM: W2960X

PubMed Link: 27324988

Variant Present in the following documents:

• Main text

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: 8879G>A; Trp2960*

PubMed Link: 27304073

Variant Present in the following documents:

• elife-14709-supp1.xlsx, sheet 1

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: N/A

PubMed Link: 27149842

Variant Present in the following documents:

View BVdb publication page

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