Xiangjun Huang

Identification of a Novel MYO15A Mutation in a Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss

Hong Xia, Xiangjun Huang, Yi Guo et al. · PLoS ONE · 2015 · 33 citations · Full text

Exome Sequencing, Genetics, Pathology +17

Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita

Xiangjun Huang, Xiong Deng, Hongbo Xu et al. · PLoS ONE · 2015 · 21 citations · Full text

Chinese Family, Developmental Biology, Spondyloepiphyseal Dysplasia Congenita +14

DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease

Xia Hong, Xiangjun Huang, Sheng Deng et al. · PLoS ONE · 2021 · 20 citations · Full text

A homozygous parkin p.G284R mutation in a Chinese family with autosomal recessive juvenile parkinsonism

Han Chen, Xiangjun Huang, Lamei Yuan et al. · Neuroscience Letters · 2016 · 13 citations

Neurodegenerative Diseases, Chinese Family, Mendelian Disorder +6

Identification of a novel mutation in the <i>ABCA4</i> gene in a Chinese family with retinitis pigmentosa using exome sequencing

Xiangjun Huang, Lamei Yuan, Hongbo Xu et al. · Bioscience Reports · 2018 · 13 citations · Full text