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

Ying Xiong^#; Hong Xia^#; Lamei Yuan; Sheng Deng; Zerui Ding; Hao Deng^*

J Cell Mol Med, 2021, 25(18): 9028-9037.

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DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease

Hong Xia; Xiangjun Huang; Sheng Deng; Hongbo Xu; Yan Yang; Xin Liu; Lamei Yuan; Hao Deng^*

PLoS One, 2021, 16(6): e0252786.

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GJB2 c.235delC variant associated with autosomal recessive nonsyndromic hearing loss and auditory neuropathy spectrum disorder

Hong Xia; Xiangjun Huang; Hongbo Xu; Yong-An Zhou; Lina Gong; Zhijian Yang; Jingyan Lv; Hao Deng^*

Genet Mol Biol, 2019, 42(1): 48-51.

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An OTOF frameshift variant associated with auditory neuropathy spectrum disorder

Hong Xia; Xiangjun Huang; Hongbo Xu; Yi Guo; Pengzhi Hu; Xiong Deng; Zhijian Yang; An Liu; Hao Deng^*

Current Genomics, 2018, 19(5): 370-374.

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A homozygous MYO7A mutation associated to Usher syndrome and unilateral auditory neuropathy spectrum disorder

Hong Xia; Pengzhi Hu; Lamei Yuan; Wei Xiong; Hongbo Xu; Junhui Yi; Zhijian Yang; Deng Xiong; Yi Guo; Hao Deng^*

Molecular Medicine Reports, 2017, 16(4): 4241-4246.

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