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Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 6, 2019
Exome sequencing revealed Notch ligand JAG1 as a novel candidate gene for familial exudative vitreoretinopathyLin Zhang, Xiang Zhang, Huijuan Xu, et al.
Scientific Reports|September 28, 2016
Whole exome sequencing identified novel CRB1 mutations in Chinese and Indian populations with autosomal recessive retinitis pigmentosaYin Yang, Yeming Yang, Lulin Huang, et al.
Scientific Reports|August 26, 2017
Loss of Tmem30a leads to photoreceptor degenerationLin Zhang, Yeming Yang, Shujin Li, et al.
Cell Death & Disease|February 18, 2026
Unveiling ZNF124 as a novel determinant in neurodegeneration: orchestration of photoreceptor homeostasis through MSX2 transcriptional regulationYeming Yang, Xiaoyan Jiang, Shujin Li, et al.
Science China. Life Sciences|June 15, 2021
The ER membrane protein complex subunit Emc3 controls angiogenesis via the FZD4/WNT signaling axisMu Yang, Shujin Li, Wenjing Liu, et al.
Human Molecular Genetics|April 4, 2020
Deletion of the Impg2 gene causes the degeneration of rod and cone cells in miceHuijuan Xu, Chao Qu, Li Gan, et al.
Genes & Diseases|August 9, 2023
Defective EMC1 drives abnormal retinal angiogenesis via Wnt/β-catenin signaling and may be associated with the pathogenesis of familial exudative vitreoretinopathyShujin Li, Mu Yang, Rulian Zhao, et al.
Genetic Testing and Molecular Biomarkers|May 27, 2016
Whole Exome Sequencing Analysis Identifies Mutations in LRP5 in Indian Families with Familial Exudative VitreoretinopathyLin Zhang, Yeming Yang, Shujin Li, et al.
The American Journal of Pathology|September 19, 2017
Hepatic Tmem30a Deficiency Causes Intrahepatic Cholestasis by Impairing Expression and Localization of Bile Salt TransportersLeiming Liu, Lingling Zhang, Lin Zhang, et al.
The Journal of Clinical Investigation|January 26, 2021
Catenin α 1 mutations cause familial exudative vitreoretinopathy by overactivating Norrin/β-catenin signalingXianjun Zhu, Mu Yang, Peiquan Zhao, et al.
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