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: V2509A; rs762276522

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Human mutations in integrator complex subunits link transcriptome integrity to brain development.

Plos Genetics

Oegema, Renske R; Baillat, David D; Schot, Rachel R; van Unen, Leontine M LM; Brooks, Alice A; Kia, Sima Kheradmand SK; Hoogeboom, A Jeannette M AJM; Xia, Zheng Z; Li, Wei W; Cesaroni, Matteo M; Lequin, Maarten H MH; van Slegtenhorst, Marjon M; Dobyns, William B WB; de Coo, Irenaeus F M IFM; Verheijen, Frans W FW; Kremer, Andreas A; van der Spek, Peter J PJ; Heijsman, Daphne D; Wagner, Eric J EJ; Fornerod, Maarten M; Mancini, Grazia M S GMS

Publication Date: 2017-05

Variant appearance in text: DNAH11: V2509A

PubMed Link: 28542170

Variant Present in the following documents:

• pgen.1006809.s013.xlsx, sheet 1

View BVdb publication page