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: MED23: G128R; rs569927513

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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The Genomic Landscape of Actinic Keratosis.

The Journal Of Investigative Dermatology

Thomson, Jason J; Bewicke-Copley, Findlay F; Anene, Chinedu Anthony CA; Gulati, Abha A; Nagano, Ai A; Purdie, Karin K; Inman, Gareth J GJ; Proby, Charlotte M CM; Leigh, Irene M IM; Harwood, Catherine A CA; Wang, Jun J

Publication Date: 2021-07

Variant appearance in text: MED23: 382G>A; G128R; rs569927513

PubMed Link: 33482222

Variant Present in the following documents:

• mmc1.xlsx, sheet 4

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Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy.

Frontiers In Neurology

Demos, Michelle M; Guella, Ilaria I; DeGuzman, Conrado C; McKenzie, Marna B MB; Buerki, Sarah E SE; Evans, Daniel M DM; Toyota, Eric B EB; Boelman, Cyrus C; Huh, Linda L LL; Datta, Anita A; Michoulas, Aspasia A; Selby, Kathryn K; Bjornson, Bruce H BH; Horvath, Gabriella G; Lopez-Rangel, Elena E; van Karnebeek, Clara D M CDM; Salvarinova, Ramona R; Slade, Erin E; Eydoux, Patrice P; Adam, Shelin S; Van Allen, Margot I MI; Nelson, Tanya N TN; Bolbocean, Corneliu C; Connolly, Mary B MB; Farrer, Matthew J MJ

Publication Date: 2019

Variant appearance in text: MED23: 382G>A; G128R

PubMed Link: 31164858

Variant Present in the following documents:

• Main text
• fneur-10-00434.pdf

View BVdb publication page