Publications:

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: P2591L

PubMed Link: 34556108

Variant Present in the following documents:

• 12920_2021_Article_1084.pdf

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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: 7772C>T; Pro2591Leu

PubMed Link: 34405951

Variant Present in the following documents:

• Main text
• JCMM-25-9028.pdf

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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: 7772C>T; Pro2591Leu

PubMed Link: 34133440

Variant Present in the following documents:

• Main text
• pone.0252786.pdf

View BVdb publication page