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: 1216C>G; Arg406Gly; rs377153250

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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: rs377153250

PubMed Link: 29292755

Variant Present in the following documents:

• Main text
• genes-08-00375.pdf

View BVdb publication page

Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: BARD1: 1216C>G; Arg406Gly

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

Functional Analysis of BARD1 Missense Variants in Homology-Directed Repair of DNA Double Strand Breaks.

Human Mutation

Lee, Cindy C; Banerjee, Tapahsama T; Gillespie, Jessica J; Ceravolo, Amanda A; Parvinsmith, Matthew R MR; Starita, Lea M LM; Fields, Stanley S; Toland, Amanda E AE; Parvin, Jeffrey D JD

Publication Date: 2015-12

Variant appearance in text: BARD1: R406G

PubMed Link: 26350354

Variant Present in the following documents:

• Main text

View BVdb publication page