| Catenin α 1 mutations cause familial exudative vitreoretinopathy by overactivating Norrin/β-catenin signaling X Zhu, M Yang, P Zhao, S Li, L Zhang, L Huang, Y Huang, P Fei, Y Yang, ... The Journal of clinical investigation 131 (6), 2021 | 58 | 2021 |
| Exome sequencing revealed Notch ligand JAG1 as a novel candidate gene for familial exudative vitreoretinopathy L Zhang, X Zhang, H Xu, L Huang, S Zhang, W Liu, Y Yang, P Fei, S Li, ... Genetics in Medicine 22 (1), 77-84, 2020 | 49 | 2020 |
| Disruption of Tmem30a results in cerebellar ataxia and degeneration of Purkinje cells Y Yang, K Sun, W Liu, L Zhang, K Peng, S Zhang, S Li, M Yang, Z Jiang, ... Cell death & disease 9 (9), 899, 2018 | 32 | 2018 |
| A splicing mutation in aryl hydrocarbon receptor associated with retinitis pigmentosa Y Zhou, S Li, L Huang, Y Yang, L Zhang, M Yang, W Liu, K Ramasamy, ... Human molecular genetics 27 (14), 2563-2572, 2018 | 32 | 2018 |
| Loss of Tmem30a leads to photoreceptor degeneration L Zhang, Y Yang, S Li, S Zhang, X Zhu, Z Tai, MU Yang, Y Liu, X Guo, ... Scientific reports 7 (1), 9296, 2017 | 28 | 2017 |
| CTNND1 variants cause familial exudative vitreoretinopathy through the Wnt/cadherin axis M Yang, S Li, L Huang, R Zhao, E Dai, X Jiang, Y He, J Lu, L Peng, W Liu, ... JCI insight 7 (14), 2022 | 25 | 2022 |
| Variants in the Wnt co-receptor LRP6 are associated with familial exudative vitreoretinopathy. S Li, M Yang, Y He, X Jiang, R Zhao, W Liu, L Huang, Y Shi, X Li, K Sun, ... Journal of Genetics and Genomics= Yi Chuan xue bao 49 (6), 590-594, 2021 | 23 | 2021 |
| Whole-Exome Sequencing Identified DLG1 as a Candidate Gene for Familial Exudative Vitreoretinopathy S Zhang, X Li, W Liu, X Zhang, L Huang, S Li, M Yang, P Zhao, J Yang, ... Genetic Testing and Molecular Biomarkers 25 (5), 309-316, 2021 | 23 | 2021 |
| The ER membrane protein complex subunit Emc3 controls angiogenesis via the FZD4/WNT signaling axis M Yang, S Li, W Liu, X Li, Y He, Y Yang, K Sun, L Zhang, W Tian, L Duan, ... Science China Life Sciences 64 (11), 1868-1883, 2021 | 22 | 2021 |
| TMEM30A deficiency in endothelial cells impairs cell proliferation and angiogenesis S Zhang, W Liu, Y Yang, K Sun, S Li, H Xu, M Yang, L Zhang, X Zhu Journal of Cell Science 132 (7), jcs225052, 2019 | 22 | 2019 |
| Novel truncating variants in CTNNB1 cause familial exudative vitreoretinopathy Y He, M Yang, R Zhao, L Peng, E Dai, L Huang, P Zhao, S Li, Z Yang Journal of Medical Genetics 60 (2), 174-182, 2023 | 17 | 2023 |
| Targeted Next-Generation Sequencing Reveals Novel RP1 Mutations in Autosomal Recessive Retinitis Pigmentosa S Li, M Yang, W Liu, Y Liu, L Zhang, Y Yang, P Sundaresan, Z Yang, ... Genetic Testing and Molecular Biomarkers 22 (2), 109-114, 2018 | 13 | 2018 |
| Deep Sc-RNA sequencing decoding the molecular dynamic architecture of the human retina L Huang, R Li, L Ye, S Zhang, H Tian, M Du, C Qu, S Li, J Li, M Yang, ... Science China Life Sciences 66 (3), 496-515, 2023 | 12 | 2023 |
| Defective EMC1 drives abnormal retinal angiogenesis via Wnt/β-catenin signaling and may be associated with the pathogenesis of familial exudative vitreoretinopathy S Li, M Yang, R Zhao, L Peng, W Liu, X Jiang, Y He, E Dai, L Zhang, ... Genes & Diseases 10 (6), 2572-2585, 2023 | 11 | 2023 |
| Heterozygote loss‐of‐function variants in the LRP5 gene cause familial exudative vitreoretinopathy R Zhao, S Wang, P Zhao, E Dai, X Zhang, L Peng, Y He, M Yang, S Li, ... Clinical & Experimental Ophthalmology 50 (4), 441-448, 2022 | 8 | 2022 |
| LMBR1L regulates the proliferation and migration of endothelial cells through Norrin/β-catenin signaling W Liu, X Jiang, X Li, K Sun, Y Yang, M Yang, S Li, X Zhu Journal of Cell Science 135 (6), jcs259468, 2022 | 8 | 2022 |
| Whole-exome sequencing reveals novel NDP variants in X-linked familial exudative vitreoretinopathy Y Peng, R Zhao, E Dai, L Peng, Y He, S Li, M Yang European Journal of Ophthalmology 32 (6), 3220-3226, 2022 | 5 | 2022 |
| Targeted Next-Generation Sequencing Reveals a Novel Frameshift Mutation in the MERTK Gene in a Chinese Family with Retinitis Pigmentosa M Yang, S Li, W Liu, Y Yang, L Zhang, S Zhang, Z Jiang, Z Yang, X Zhu Genetic Testing and Molecular Biomarkers 22 (3), 165-169, 2018 | 5 | 2018 |
| A comprehensive functional analysis on the pathogenesis of novel TSPAN12 and NDP variants in familial exudative vitreoretinopathy R Zhao, E Dai, S Wang, X Zhang, Y He, L Peng, P Zhao, Z Yang, M Yang, ... Clinical Genetics 103 (3), 320-329, 2023 | 4 | 2023 |
| Whole-Exome Sequencing Reveals Novel TSPAN12 Variants in Autosomal Dominant Familial Exudative Vitreoretinopathy C Chen, M Yang, L Huang, R Zhao, P Sundaresan, X Zhu, S Li, Z Yang Genetic Testing and Molecular Biomarkers 25 (6), 399-404, 2021 | 4 | 2021 |
