Publications:

DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease.

Plos One

Xia, Hong H; Huang, Xiangjun X; Deng, Sheng S; Xu, Hongbo H; Yang, Yan Y; Liu, Xin X; Yuan, Lamei L; Deng, Hao H

Publication Date: 2021

Variant appearance in text: DNAH11: 2912A>G; Asp971Gly

PubMed Link: 34133440

Variant Present in the following documents:

• Main text
• pone.0252786.pdf

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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: 2912A>G; D971G

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

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Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome.

Bmc Medical Genetics

Ling, Chao C; Sui, Ruifang R; Yao, Fengxia F; Wu, Zhihong Z; Zhang, Xue X; Zhang, Shuyang S

Publication Date: 2019-01-14

Variant appearance in text: DNAH11: D971G; rs147700251

PubMed Link: 30642278

Variant Present in the following documents:

• 12881_2018_725_MOESM2_ESM.xlsx, sheet 1

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Next-generation sequencing for identifying genetic mutations in adults with bronchiectasis.

Journal Of Thoracic Disease

Guan, Wei-Jie WJ; Li, Jia-Cheng JC; Liu, Fang F; Zhou, Jian J; Liu, Ya-Ping YP; Ling, Chao C; Gao, Yong-Hua YH; Li, Hui-Min HM; Yuan, Jing-Jing JJ; Huang, Yan Y; Chen, Chun-Lan CL; Chen, Rong-Chang RC; Zhang, Xue X; Zhong, Nan-Shan NS

Publication Date: 2018-05

Variant appearance in text: DNAH11: 2912A>G; D971G

PubMed Link: 29997923

Variant Present in the following documents:

• Main text

View BVdb publication page