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: rs769724849

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

In-depth characterization of intratumoral heterogeneity in refractory B-cell non-Hodgkin lymphoma through the lens of a Research Autopsy Program.

Haematologica

Isaev, Keren K; Liu, Ting T; Bakhtiari, Mehran M; Tong, Kit K; Goswami, Rashmi R; Lam, Bernard B; Lungu, Ilinca I; Krzyzanowski, Paul M PM; Oza, Amit A; Dhani, Neesha N; Prica, Anca A; Crump, Michael M; Kridel, Robert R

Publication Date: 2022-06-23

Variant appearance in text: GPNMB: T451A

PubMed Link: 35734926

Variant Present in the following documents:

• 2022_280900_ISAEV_TABS3_SUPPL.xlsx, sheet 1
• 2022_280900_ISAEV_TABS4_SUPPL.xlsx, sheet 2

View BVdb publication page