Yi Sun

A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China.

Long-xia Wang, Aijun Liu, Huijun Yuan, 2015, International journal of clinical and experimental pathology.

A novel mutation of EYA4 in a large Chinese family with autosomal dominant middle-frequency sensorineural hearing loss by targeted exome sequencing

Jing Cheng, Guang Yang, Li Zhu, 2015, Journal of Human Genetics.

Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient

Yi Zhao, Yu Lu, Huijun Yuan, 2021, Molecular genetics & genomic medicine.

Identification of two novel missense WFS1 mutations, H696Y and R703H, in patients with non-syndromic low-frequency sensorineural hearing loss.

P. Dai, Huijun Yuan, Jianzhong Li, 2011, Journal of genetics and genomics = Yi chuan xue bao.

Genome‐wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment

Joseph T. Glessner, I. Krantz, N. Spinner, 2012, American journal of medical genetics. Part A.

Clinical observation and genetic analysis of a SYNS1 family caused by novel NOG gene mutation

Li Wang, Jing Cao, Yu Lu, 2022, Molecular genetics & genomic medicine.

Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearing impairment in two large families from China

J. Chen, X. Liu, D. Yan, 2011, Journal of Human Genetics.

Identification of a novel mutation in POU3F4 for prenatal diagnosis in a Chinese family with X-linked nonsyndromic hearing loss.

D. Kang, P. Dai, Huijun Yuan, 2010, Journal of genetics and genomics = Yi chuan xue bao.

The clinical and genetic research of Waardenburg syndrome type I and II in Chinese families.

Li Wang, Jing Cheng, Guang Yang, 2019, International journal of pediatric otorhinolaryngology.

[Analysis of CSF1R gene mutation in a Chinese family with hereditary diffuse leukoencephalopathy with neuroaxonal spheroids].

Lu Shen, Xiao-hua Gu, H. Zou, 2015, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

Genome‐wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment

I. Krantz, N. Spinner, J. Glessner, 2012, American journal of medical genetics. Part A.