Aiden Eblimit, Ph.D

Dr. Aiden EblimitInstructor, Department of Molecular and Human Genetics

Contact information:


B.S., East China Normal University, 1990, China
M.S., East China Normal University, 1993, China
Ph.D., Pavlov First Saint-Petersburg State Medical University, 2000, Russia

Research Interests:

I am interested in understanding the pathogenesis of human retinal diseases.


Zhao L, Chen Y, Bajaj AOnkar, et al. Integrative subcellular proteomic analysis allows accurate prediction of human disease-causing genes. Genome Res. 2016;26(5):660-9. doi:10.1101/gr.198911.115.

Jin M, Eblimit A, Pulikkathara M, Corr S, Chen R, Mardon G. Conditional knockout of retinal determination genes in differentiating cells in Drosophila. FEBS J. 2016;283(15):2754-66. doi:10.1111/febs.13772.

Xu M, Yamada T, Sun Z, et al. Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa. Hum Mol Genet. 2016;25(8):1479-88. doi:10.1093/hmg/ddw022.

Soens ZT, Li Y, Zhao L, et al. Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1. Genet Med. 2016;18(10):1044-51. doi:10.1038/gim.2015.205.

Xu M, Eblimit A, Wang J, et al. ADIPOR1 Is Mutated in Syndromic Retinitis Pigmentosa. Hum Mutat. 2016;37(3):246-9. doi:10.1002/humu.22940.

Eblimit A, Nguyen T-MT, Chen Y, et al. Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina. Hum Mol Genet. 2015;24(6):1584-601. doi:10.1093/hmg/ddu573.

Xu M, Gelowani V, Eblimit A, et al. ATF6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular Involvement. Invest Ophthalmol Vis Sci. 2015;56(6):3889-95. doi:10.1167/iovs.15-16778.

Jusiak B, Eblimit A, Haelterman N, Chen R, Mardon G. MAPK target sites of eyes absent are not required for eye development or survival in Drosophila. PLoS One. 2012;7(12):e50776. doi:10.1371/journal.pone.0050776.