Chufeng He

Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome

Hongsheng Chen, Lu Jiang, Zhiguo Xie et al. · Biochemical and Biophysical Research Communications · 2010 · 68 citations

Sox10 Genes, Disease Mechanism, Genetic Disorder +9

Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II

Hua Zhang, Hongsheng Chen, Hunjin Luo et al. · Human Genetics · 2011 · 43 citations

Disease Mechanism, Genetic Disorder, Medicine +9

Proband Whole-Exome Sequencing Identified Genes Responsible for Autosomal Recessive Non-Syndromic Hearing Loss in 33 Chinese Nuclear Families

Shushan Sang, Jie Ling, Xuezhong Liu et al. · Frontiers in Genetics · 2019 · 37 citations · Full text

A nonsense <i>TMEM43</i> variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder

Minwoo Wendy Jang, Doo‐Yi Oh, Eunyoung Yi et al. · Proceedings of the National Academy of Sciences · 2021 · 29 citations · Full text

A rapid improved multiplex ligation detection reaction method for the identification of gene mutations in hereditary hearing loss

Yalan Liu, Chang Hu, Chang Liu et al. · PLoS ONE · 2019 · 27 citations · Full text

Genetics, Genetic Epidemiology, Human Polymorphism +19