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: 1843C>G; Gln615Glu; rs751710099

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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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: rs751710099

PubMed Link: 29292755

Variant Present in the following documents:

• Main text
• genes-08-00375.pdf

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Comprehensive genomic analysis of Oesophageal Squamous Cell Carcinoma reveals clinical relevance.

Scientific Reports

Du, Peina P; Huang, Peide P; Huang, Xuanlin X; Li, Xiangchun X; Feng, Zhimin Z; Li, Fengyu F; Liang, Shaoguang S; Song, Yongmei Y; Stenvang, Jan J; Brünner, Nils N; Yang, Huanming H; Ou, Yunwei Y; Gao, Qiang Q; Li, Lin L

Publication Date: 2017-11-10

Variant appearance in text: BARD1: 1843C>G; Q615E

PubMed Link: 29127303

Variant Present in the following documents:

• 41598_2017_14909_MOESM4_ESM.xlsx, sheet 1

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Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature Neuroscience

Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA

Publication Date: 2016-11

Variant appearance in text: BARD1: 1843C>G

PubMed Link: 27694994

Variant Present in the following documents:

• NIHMS815183-supplement-supp_table3.xlsx, sheet 1

View BVdb publication page