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: 3980T>G; Leu1327Ter

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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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: 3980T>G; L1327X; rs587782192

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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Evaluation of Commercial Circulating Tumor DNA Test in Metastatic Prostate Cancer.

Jco Precision Oncology

Taavitsainen, Sinja S; Annala, Matti M; Ledet, Elisa E; Beja, Kevin K; Miller, Patrick J PJ; Moses, Marcus M; Nykter, Matti M; Chi, Kim N KN; Sartor, Oliver O; Wyatt, Alexander W AW

Publication Date: 2019

Variant appearance in text: ATM: L1327X

PubMed Link: 32914020

Variant Present in the following documents:

• PO.19.00014.pdf

View BVdb publication page

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Clinical utility of custom-designed NGS panel testing in pediatric tumors.

Genome Medicine

Surrey, Lea F LF; MacFarland, Suzanne P SP; Chang, Fengqi F; Cao, Kajia K; Rathi, Komal S KS; Akgumus, Gozde T GT; Gallo, Daniel D; Lin, Fumin F; Gleason, Adam A; Raman, Pichai P; Aplenc, Richard R; Bagatell, Rochelle R; Minturn, Jane J; Mosse, Yael Y; Santi, Mariarita M; Tasian, Sarah K SK; Waanders, Angela J AJ; Sarmady, Mahdi M; Maris, John M JM; Hunger, Stephen P SP; Li, Marilyn M MM

Publication Date: 2019-05-28

Variant appearance in text: ATM: 3980T>G; Leu1327*

PubMed Link: 31133068

Variant Present in the following documents:

• 13073_2019_644_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Comprehensive Genomic Characterization of Parathyroid Cancer Identifies Novel Candidate Driver Mutations and Core Pathways.

Journal Of The Endocrine Society

Clarke, Callisia N CN; Katsonis, Panagiotis P; Hsu, Teng-Kuei TK; Koire, Amanda M AM; Silva-Figueroa, Angelica A; Christakis, Ioannis I; Williams, Michelle D MD; Kutahyalioglu, Merve M; Kwatampora, Lily L; Xi, Yuanxin Y; Lee, Jeffrey E JE; Koptez, E Scott ES; Busaidy, Naifa L NL; Perrier, Nancy D ND; Lichtarge, Olivier O

Publication Date: 2019-03-01

Variant appearance in text: ATM: L1327X

PubMed Link: 30788456

Variant Present in the following documents:

• Main text
• js.2018-00043.pdf

View BVdb publication page

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SETD2 mutations in primary central nervous system tumors.

Acta Neuropathologica Communications

Viaene, Angela N AN; Santi, Mariarita M; Rosenbaum, Jason J; Li, Marilyn M MM; Surrey, Lea F LF; Nasrallah, MacLean P MP

Publication Date: 2018-11-12

Variant appearance in text: ATM: L1327*

PubMed Link: 30419952

Variant Present in the following documents:

• Main text
• 40478_2018_Article_623.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: 3980T>G; L1327*

PubMed Link: 28152038

Variant Present in the following documents:

• pone.0170843.s003.xlsx, sheet 1
• pone.0170843.s004.xlsx, sheet 1

View BVdb publication page

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