Publications:

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: rs201002736

PubMed Link: 36413997

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

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Coexistence of Two Rare Genetic Variants in Canonical and Non-canonical Exons of SCN5A: A Potential Source of Misinterpretation.

Frontiers In Genetics

Shestak, Anna G AG; Makarov, Leonid M LM; Komoliatova, Vera N VN; Kolesnikova, Irina V IV; Skorodumova, Liubov O LO; Generozov, Edward V EV; Zaklyazminskaya, Elena V EV

Publication Date: 2021

Variant appearance in text: rs201002736

PubMed Link: 34552620

Variant Present in the following documents:

• Main text
• fgene-12-722291.pdf

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Brugada syndrome risk loci seem protective against atrial fibrillation.

European Journal Of Human Genetics : Ejhg

Andreasen, Laura L; Nielsen, Jonas B JB; Darkner, Stine S; Christophersen, Ingrid E IE; Jabbari, Javad J; Refsgaard, Lena L; Thiis, Jens J JJ; Sajadieh, Ahmad A; Tveit, Arnljot A; Haunsø, Stig S; Svendsen, Jesper H JH; Schmitt, Nicole N; Olesen, Morten S MS

Publication Date: 2014-12

Variant appearance in text: rs201002736

PubMed Link: 24667784

Variant Present in the following documents:

• Main text

View BVdb publication page