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: E3261D; rs201944089

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Whole genome sequencing in the diagnosis of primary ciliary dyskinesia.

Bmc Medical Genomics

Wheway, Gabrielle G; Thomas, N Simon NS; Carroll, Mary M; Coles, Janice J; Doherty, Regan R; , ; Goggin, Patricia P; Green, Ben B; Harris, Amanda A; Hunt, David D; Jackson, Claire L CL; Lord, Jenny J; Mennella, Vito V; Thompson, James J; Walker, Woolf T WT; Lucas, Jane S JS

Publication Date: 2021-09-23

Variant appearance in text: DNAH11: E3261D

PubMed Link: 34556108

Variant Present in the following documents:

• 12920_2021_Article_1084.pdf

View BVdb publication page