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: DNAH11: P851L; rs753182203

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes.

Communications Biology

Wonkam, Ambroise A; Adadey, Samuel Mawuli SM; Schrauwen, Isabelle I; Aboagye, Elvis Twumasi ET; Wonkam-Tingang, Edmond E; Esoh, Kevin K; Popel, Kalinka K; Manyisa, Noluthando N; Jonas, Mario M; deKock, Carmen C; Nembaware, Victoria V; Cornejo Sanchez, Diana M DM; Bharadwaj, Thashi T; Nasir, Abdul A; Everard, Jenna L JL; Kadlubowska, Magda K MK; Nouel-Saied, Liz M LM; Acharya, Anushree A; Quaye, Osbourne O; Amedofu, Geoffrey K GK; Awandare, Gordon A GA; Leal, Suzanne M SM

Publication Date: 2022-04-19

Variant appearance in text: DNAH11: 2552C>T

PubMed Link: 35440622

Variant Present in the following documents:

• 42003_2022_Article_3326.pdf

View BVdb publication page