Publications:

Identification of compound heterozygous DNAH11 variants in a Han-Chinese family with primary ciliary dyskinesia.

Journal Of Cellular And Molecular Medicine

Xiong, Ying Y; Xia, Hong H; Yuan, Lamei L; Deng, Sheng S; Ding, Zerui Z; Deng, Hao H

Publication Date: 2021-09

Variant appearance in text: DNAH11: 8266T>C

PubMed Link: 34405951

Variant Present in the following documents:

View BVdb publication page

REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: DNAH11: 8266T>C; C2756R

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: DNAH11: 8266T>C; Cys2756Arg

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

Copy-number variant analysis of classic heterotaxy highlights the importance of body patterning pathways.

Human Genetics

Hagen, Erin M EM; Sicko, Robert J RJ; Kay, Denise M DM; Rigler, Shannon L SL; Dimopoulos, Aggeliki A; Ahmad, Shabbir S; Doleman, Margaret H MH; Fan, Ruzong R; Romitti, Paul A PA; Browne, Marilyn L ML; Caggana, Michele M; Brody, Lawrence C LC; Shaw, Gary M GM; Jelliffe-Pawlowski, Laura L LL; Mills, James L JL

Publication Date: 2016-12

Variant appearance in text: DNAH11: C2756R; rs74667361

PubMed Link: 27637763

Variant Present in the following documents:

• Main text

View BVdb publication page