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: R2044Q; rs372051486
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: 6131G>A; rs372051486