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: S3056G; rs924923201

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Clinical and genetic features of primary ciliary dyskinesia in a cohort of consecutive clinically suspect children in western China.

Bmc Pediatrics

Li, Ying Y; Fu, Wenlong W; Geng, Gang G; Dai, Jihong J; Fu, Zhou Z; Tian, Daiyin D

Publication Date: 2022-07-08

Variant appearance in text: DNAH11: 9166A>G; S3056G

PubMed Link: 35804324

Variant Present in the following documents:

• 12887_2022_3469_MOESM2_ESM.xlsx, sheet 1
• 12887_2022_3469_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

Integrative analysis reveals clinically relevant molecular fingerprints in pancreatic cancer.

Molecular Therapy. Nucleic Acids

Song, Libin L; Qi, Simin S; Hu, Wei W; Fang, Zhixiao Z; Yu, Dehua D; Liu, Teng T; Wu, Jingni J; Wu, Yangjun Y; Wu, Aiwei A; Feng, Lanyun L; Xie, Jing J; Zhang, Bo B; He, Wenguang W; Ning, Zhouyu Z; Liu, Luming L; Qin, Jiang-Jiang JJ; Li, Shengli S

Publication Date: 2021-12-03

Variant appearance in text: DNAH11: 9166A>G; S3056G

PubMed Link: 34513290

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page