Xiaoyun Jia

Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing

Yan Xu, Liping Guan, Tao Shen et al. · Human Genetics · 2014 · 181 citations

Mendelian Disorder, Known Causative Genes, Exome Sequencing +10

Mitochondrial DNA Haplogroups M7b1′2 and M8a Affect Clinical Expression of Leber Hereditary Optic Neuropathy in Chinese Families with the m.11778G→A Mutation

Yanli Ji, A‐Mei Zhang, Xiaoyun Jia et al. · The American Journal of Human Genetics · 2008 · 131 citations · Full text

Neurodegenerative Diseases, Mendelian Disorder, Genetic Disorder +8

Detection of Variants in 15 Genes in 87 Unrelated Chinese Patients with Leber Congenital Amaurosis

Lin Li, Xueshan Xiao, Shiqiang Li et al. · PLoS ONE · 2011 · 125 citations · Full text

Detection of Mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 Families With Early-Onset High Myopia by Exome Sequencing

Dan Jiang, Jiali Li, Xueshan Xiao et al. · Investigative Ophthalmology & Visual Science · 2014 · 121 citations · Full text

A new locus for autosomal dominant high myopia maps to 4q22-q27 between D4S1578 and D4S1612.

Qingjiong Zhang, Xiangming Guo, Xueshan Xiao et al. · PubMed · 2005 · 119 citations