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: NOTCH1: S2336N; rs1363351087

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Mutation allele frequency threshold does not affect prognostic analysis using next-generation sequencing in oral squamous cell carcinoma.

Bmc Cancer

Ma, Jie J; Fu, Yong Y; Tu, Yao-Yao YY; Liu, Ying Y; Tan, Yi-Ran YR; Ju, Wu-Tong WT; Pickering, Curtis R CR; Myers, Jeffrey N JN; Zhang, Zhi-Yuan ZY; Zhong, Lai-Ping LP

Publication Date: 2018-07-24

Variant appearance in text: NOTCH1: Ser2336Asn

PubMed Link: 30041611

Variant Present in the following documents:

• Main text
• 12885_2018_Article_4481.pdf

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Mutation profiles of synchronous colorectal cancers from a patient with Lynch syndrome suggest distinct oncogenic pathways.

Journal Of Gastrointestinal Oncology

Wheeler, Scott R SR; Shi, Chanjuan C; Holt, Jonathan A JA; Vnencak-Jones, Cindy L CL

Publication Date: 2016-06

Variant appearance in text: NOTCH1: 7007G>A; S2336N

PubMed Link: 27284491

Variant Present in the following documents:

• Main text

View BVdb publication page