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: DICER1: Y1835S; rs747510783

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.

Cancers

Sprissler, Ryan R; Perkins, Bryce B; Johnstone, Laurel L; Babiker, Hani M HM; Chalasani, Pavani P; Lau, Branden B; Hammer, Michael M; Mahadevan, Daruka D

Publication Date: 2020-06-18

Variant appearance in text: rs747510783

PubMed Link: 32570879

Variant Present in the following documents:

• Main text
• cancers-12-01618.pdf

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The prevalence of germline DICER1 pathogenic variation in cancer populations.

Molecular Genetics & Genomic Medicine

Kim, Jung J; Schultz, Kris Ann P KAP; Hill, Dana Ashley DA; Stewart, Douglas R DR

Publication Date: 2019-03

Variant appearance in text: DICER1: Tyr1835Ser

PubMed Link: 30672147

Variant Present in the following documents:

• Main text
• MGG3-7-na.pdf

View BVdb publication page