Identification of deep-intronic splice mutations in a large cohort of patients with inherited retinal diseases X Qian, J Wang, M Wang, AD Igelman, KD Jones, Y Li, K Wang, KE Goetz, ... Frontiers in genetics 12, 647400, 2021 | 44 | 2021 |
Loss and resiliency of social amoeba symbiosis under simulated warming L Shu, X Qian, DA Brock, KS Geist, DC Queller, JE Strassmann Ecology and Evolution 10 (23), 13182-13189, 2020 | 12 | 2020 |
Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy RE Bertrand, J Wang, KH Xiong, C Thangavel, X Qian, R Ba-Abbad, ... Genetics in Medicine 23 (3), 488-497, 2021 | 11 | 2021 |
Retinal organoids derived from rhesus macaque iPSCs undergo accelerated differentiation compared to human stem cells AM Antonio Jacobo Lopez,Sangbae Kim,Xinye Qian,Jeffrey Rogers,J. Timothy ... Cell Prolif, 2022 | 9 | 2022 |
Noncoding mutation in RPGRIP1 contributes to inherited retinal degenerations G Zou, T Zhang, X Cheng, AD Igelman, J Wang, X Qian, S Fu, K Wang, ... Molecular vision 27, 95, 2021 | 8 | 2021 |
Systematic assessment of the contribution of structural variants to inherited retinal diseases S Wen, M Wang, X Qian, Y Li, K Wang, J Choi, ME Pennesi, P Yang, ... Human molecular genetics 32 (12), 2005-2015, 2023 | 7 | 2023 |
Novel pathogenic mutations identified from whole-genome sequencing in unsolved cases of patients affected with inherited retinal diseases HMJ Hussain, M Wang, A Huang, R Schmidt, X Qian, P Yang, M Marra, ... Genes 14 (2), 447, 2023 | 4 | 2023 |
AAV8-Mediated Gene Therapy Rescues Retinal Degeneration Phenotype in a Tlcd3b Knockout Mouse Model X Qian, H Liu, S Fu, J Lu, YT Hung, C Turner, H Gu, R Chen Investigative Ophthalmology & Visual Science 63 (3), 11-11, 2022 | 3 | 2022 |
Spata7 is required for maintenance of the retinal connecting cilium J Lu, K Xiong, X Qian, J Choi, YK Shim, J Burnett, G Mardon, R Chen Scientific Reports 12 (1), 5575, 2022 | 2 | 2022 |
Single-nuclei multiomics meta-analysis of human organoids and fetal retina reveals developmental transcriptional and epigenetic differences J Li, Z Zuo, S Ferdous, X Qian, Y Li, X Cheng, J Li, Y Bao, A Moshiri, ... Investigative Ophthalmology & Visual Science 65 (7), 4547-4547, 2024 | | 2024 |
The Role of Ceramide in Inherited Retinal Disease Pathology XQ Tanmay Srinivasan, Jessica He, Rui Chen Advances in Experimental Medicine and Biology 1415, 2023 | | 2023 |
Ceramide compensation by ceramide synthases preserves retinal function and structure in a retinal dystrophy mouse model X Qian, T Srinivasan, J He, J Lu, Y Jin, H Gu, R Chen Disease Models & Mechanisms 16 (7), 2023 | | 2023 |
Single-nuclei Multiomics Analysis of Human Organoids and Fetal Retina Reveals Developmental Transcriptional and Epigenetic Differences S Ferdous, Z Zuo, Y Zhang, X Qian, Y Li, X Cheng, J Li, A Tian, J Quinlan, ... Investigative Ophthalmology & Visual Science 64 (8), 1867-1867, 2023 | | 2023 |
Ceramide compensation by canonical ceramide synthases preserves retinal function and structure in a mouse model of retinal dystrophy X Qian, T Srinivasan, J He, J Lu, Y Jin, H Gu, R Chen Investigative Ophthalmology & Visual Science 64 (8), 3774-3774, 2023 | | 2023 |
Systematic Identification of Deep-intronic Splicing Variants in a Large Cohort of Patients with Inherited Retinal Diseases X Qian, N Aceves, R Chen Investigative Ophthalmology & Visual Science 63 (7), 1601¡VA0390-1601¡VA0390, 2022 | | 2022 |
Ceramide synthase TLCD3B as a novel gene associated with human recessive cone-rod dystrophy and maculopathy R Chen, RE Bertrand, J Wang, KH Xiong, C Thangavel, X Qian, ... Investigative Ophthalmology & Visual Science 61 (7), 1953-1953, 2020 | | 2020 |