Genetic and clinical characterization of mainland Chinese patients with sialidosis type 1

by Xiaoxu Han, Shijing Wu, Min Wang, Hui Li, Yan Huang, Ruifang Sui
Published 2020-08-01

Structural modeling, mutation analysis, and in vitro expression of usherin, a major protein in inherited retinal degeneration and hearing loss

by Dongmei Yu, Junhuang Zou, Qian Chen, Tian Zhu, Ruifang Sui, Jun Yang
Published 2020-01-01

Unilateral retinocytoma associated with a variant in the RB1 gene

by Shijing Wu, Xuan Zou, Zixi Sun, Tian Zhu, Xing Wei, Ruifang Sui
Published 2020-04-01

Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome

by Chao Ling, Ruifang Sui, Fengxia Yao, Zhihong Wu, Xue Zhang, Shuyang Zhang
Published 2019-01-01

Generation of two human induced pluripotent stem cell lines from patients with biallelic USH2A variants

by Tian Zhu, Shijing Wu, Zixi Sun, Xing Wei, Xiaoxu Han, Xuan Zou, Ruifang Sui
Published 2021-08-01

Generation of a human induced pluripotent stem cell line from a Bietti crystalline corneoretinal dystrophy patient with CYP4V2 mutations

by Shijing Wu, Tian Zhu, Zixi Sun, Xing Wei, Xiaoxu Han, Xuan Zou, Ruifang Sui
Published 2021-05-01

The phenotypic variability of HK1-associated retinal dystrophy

by Zhisheng Yuan, Baiyu Li, Mingchu Xu, Emmanuel Y. Chang, Huajin Li, Lizhu Yang, Shijing Wu, Zachry T. Soens, Yumei Li, Lee-Jun C. Wong, Richard A. Lewis, Ruifang Sui, Rui Chen
Published 2017-08-01