Publications:

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: 8774G>T; G2925V

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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Returning Individual Genetic Research Results to Research Participants: Uptake and Outcomes Among Patients With Breast Cancer.

Jco Precision Oncology

Bradbury, Angela R AR; Patrick-Miller, Linda L; Egleston, Brian L BL; Maxwell, Kara N KN; DiGiovanni, Laura L; Brower, Jamie J; Fetzer, Dominique D; Bennett Gaieski, Jill J; Brandt, Amanda A; McKenna, Danielle D; Long, Jessica J; Powers, Jacquelyn J; Stopfer, Jill E JE; Nathanson, Katherine L KL; Domchek, Susan M SM

Publication Date: 2018

Variant appearance in text: ATM: G2925V

PubMed Link: 32095738

Variant Present in the following documents:

• Main text

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: ATM: G2925V

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

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Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer.

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

Maxwell, Kara N KN; Wubbenhorst, Bradley B; D'Andrea, Kurt K; Garman, Bradley B; Long, Jessica M JM; Powers, Jacquelyn J; Rathbun, Katherine K; Stopfer, Jill E JE; Zhu, Jiajun J; Bradbury, Angela R AR; Simon, Michael S MS; DeMichele, Angela A; Domchek, Susan M SM; Nathanson, Katherine L KL

Publication Date: 2015-08

Variant appearance in text: ATM: G2925V

PubMed Link: 25503501

Variant Present in the following documents:

• Main text
• NIHMS641969-supplement-Supplementary_Table_1.xls, sheet 1
• nihms641969.pdf

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Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research

Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C

Publication Date: 2011-09-01

Variant appearance in text: ATM: G2925V

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

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