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: NPC1: R78Q; rs373274825

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann-Pick disease type C1.

Scientific Reports

Chiorean, Andreea A; Garver, William S WS; Meyre, David D

Publication Date: 2020-11-02

Variant appearance in text: rs373274825

PubMed Link: 33139814

Variant Present in the following documents:

• 41598_2020_75919_MOESM2_ESM.xlsx, sheet 1

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: NPC1: 233G>A

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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Genomic differences between pure ductal carcinoma in situ and synchronous ductal carcinoma in situ with invasive breast cancer.

Oncotarget

Kim, Shinn Young SY; Jung, Seung-Hyun SH; Kim, Min Sung MS; Baek, In-Pyo IP; Lee, Sung Hak SH; Kim, Tae-Min TM; Chung, Yeun-Jun YJ; Lee, Sug Hyung SH

Publication Date: 2015-04-10

Variant appearance in text: NPC1: R78Q

PubMed Link: 25831047

Variant Present in the following documents:

• oncotarget-06-7597-s002.xlsx, sheet 1

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High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Wassif, Christopher A CA; Cross, Joanna L JL; Iben, James J; Sanchez-Pulido, Luis L; Cougnoux, Antony A; Platt, Frances M FM; Ory, Daniel S DS; Ponting, Chris P CP; Bailey-Wilson, Joan E JE; Biesecker, Leslie G LG; Porter, Forbes D FD

Publication Date: 2016-01

Variant appearance in text: NPC1: 233G>A; R78Q; rs373274825

PubMed Link: 25764212

Variant Present in the following documents:

• Main text
• emss-62276.pdf

View BVdb publication page