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Journal of Medical Genetics|December 22, 2018
Biallelic mutations in USP45, encoding a deubiquitinating enzyme, are associated with Leber congenital amaurosisZhen Yi, Jiamin Ouyang, Wenmin Sun, et al.Investigative Ophthalmology & Visual Science|January 15, 2015
Evaluation of 12 myopia-associated genes in Chinese patients with high myopiaJiali Li, Dan Jiang, Xueshan Xiao, et al.Human Molecular Genetics|January 29, 2019
CPSF1 mutations are associated with early-onset high myopia and involved in retinal ganglion cell axon projectionJiamin Ouyang, Wenmin Sun, Xueshan Xiao, et al.Journal of Human Genetics|July 13, 2006
Cataracts, ataxia, short stature, and mental retardation in a Chinese family mapped to Xpter-q13.1Xiangming Guo, Huangxuan Shen, Xueshan Xiao, et al.Human Genetics|June 8, 2019
Novel truncation mutations in MYRF cause autosomal dominant high hyperopia mapped to 11p12-q13.3Xueshan Xiao, Wenmin Sun, Jiamin Ouyang, et al.Molecular Genetics and Genomics : MGG|April 22, 2021
Pathogenicity evaluation and the genotype-phenotype analysis of OPA1 variantsXingyu Xu, Panfeng Wang, Xiaoyun Jia, et al.Translational Vision Science & Technology|May 21, 2019
An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye DiseasesPanfeng Wang, Shiqiang Li, Wenming Sun, et al.Molecular Vision|February 28, 2009
Investigation of CYP1B1 mutations in Chinese patients with primary congenital glaucomaMei Yang, Xiangming Guo, Xing Liu, et al.Molecular Vision|July 28, 2009
Association of the single nucleotide polymorphisms in the extracellular matrix metalloprotease-9 gene with PACG in southern ChinaYanhong Cong, Xiangming Guo, Xing Liu, et al.Molecular Vision|November 15, 2013
Evaluation of PRSS56 in Chinese subjects with high hyperopia or primary angle-closure glaucomaDan Jiang, Zhikuan Yang, Shiqiang Li, et al.Pageof 17