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: BARD1: 55G>T; Glu19Ter; rs752514155

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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Summary of BARD1 Mutations and Precise Estimation of Breast and Ovarian Cancer Risks Associated with the Mutations.

Genes

Suszynska, Malwina M; Kozlowski, Piotr P

Publication Date: 2020-07-15

Variant appearance in text: BARD1: 55G>T; E19*

PubMed Link: 32679805

Variant Present in the following documents:

• Main text
• genes-11-00798.pdf

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Dualistic Role of BARD1 in Cancer.

Genes

Cimmino, Flora F; Formicola, Daniela D; Capasso, Mario M

Publication Date: 2017-12-08

Variant appearance in text: rs752514155

PubMed Link: 29292755

Variant Present in the following documents:

• Main text
• genes-08-00375.pdf

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: BARD1: E19*

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-6.xlsx, sheet 1

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