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: RUNX2: D300H; rs370331024

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.

Npj Genomic Medicine

Anderson, Corey L CL; Langer, Emma R ER; Routes, Timothy C TC; McWilliams, Seamus F SF; Bereslavskyy, Igor I; Kamp, Timothy J TJ; Eckhardt, Lee L LL

Publication Date: 2021-12-03

Variant appearance in text: CCD: D300H

PubMed Link: 34862408

Variant Present in the following documents:

• 41525_2021_265_MOESM1_ESM.pdf

View BVdb publication page

Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.

Npj Genomic Medicine

Anderson, Corey L CL; Langer, Emma R ER; Routes, Timothy C TC; McWilliams, Seamus F SF; Bereslavskyy, Igor I; Kamp, Timothy J TJ; Eckhardt, Lee L LL

Publication Date: 2021-12-03

Variant appearance in text: CCD: D300H

PubMed Link: 34862408

Variant Present in the following documents:

• 41525_2021_265_MOESM1_ESM.pdf

View BVdb publication page