Yabin Chen

Whole Exome Sequencing and Segregation Analysis Confirms That a Mutation in COL17A1 Is the Cause of Epithelial Recurrent Erosion Dystrophy in a Large Dominant Pedigree Previously Mapped to Chromosome 10q23-q24

R. Yee, R. Frausto, D. Chung, 2016, PloS one.

Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families

P. Sieving, Shaheen N. Khan, S. Riazuddin, 2017, Investigative ophthalmology & visual science.

Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy

Xueshan Xiao, Shi-qiang Li, Panfeng Wang, 2013, Molecular vision.

A novel LRAT mutation affecting splicing in a family with early onset retinitis pigmentosa

S. Riazuddin, X. Jiao, S. Amer Riazuddin, 2018, Human Genomics.

Comprehensive mutation analysis by whole-exome sequencing in 41 Chinese families with Leber congenital amaurosis.

Jun Wang, Zhihong Zhu, Jianguo Zhang, 2013, Investigative ophthalmology & visual science.

Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening

Shaheen N. Khan, S. Riazuddin, X. Jiao, 2017, Investigative ophthalmology & visual science.