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: DMD: D2727A; rs775175731

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Twists and turns from "tumor in tumor" profiling: surveillance of chronic lymphocytic leukemia (CLL) leads to detection of a lung adenocarcinoma, whose genomic characterization alters the original hematologic diagnosis.

Cold Spring Harbor Molecular Case Studies

Terraf, Panieh P; Sholl, Lynette M LM; Davids, Matthew S MS; Awad, Mark M MM; Garcia, Elizabeth P EP; MacConaill, Laura E LE; Dal Cin, Paola P; Kim, Annette A; Lindeman, Neal I NI; Stachler, Matthew M; Hwang, David H DH; Dubuc, Adrian M AM

Publication Date: 2021-08

Variant appearance in text: DMD: 8180A>C; D2727A

PubMed Link: 34074652

Variant Present in the following documents:

• Main text
• MCS006089Ter.pdf

View BVdb publication page