Yumei Li, Ph.D.

Assistant Professor, Department of Molecular and Human Genetics

Yumei Li, Ph.D.Contact information

yumeil@bcm.edu

 

 

 

 

 

Publications

2022
M Casanova I, Chen R, Garzel LM, Olstad KJ, Kim S, Harris RA, et al.. Clinical presentation, treatment, and genetic and histopathological analysis of juvenile cataracts and secondary glaucoma in a rhesus macaque (Macaca mulatta). J Med Primatol. 2022;51(2):119-123.

2021
Liang Q, Wu N, Zaneveld S, Liu H, Fu S, Wang K, et al.. Transcript isoforms of Reep6 have distinct functions in the retina. Hum Mol Genet. 2021;30(21):1907-1918.

Li D-Q, Kim S, Li J-M, Gao Q, Choi J, Bian F, et al.. Single-cell transcriptomics identifies limbal stem cell population and cell types mapping its differentiation trajectory in limbal basal epithelium of human cornea. Ocul Surf. 2021;20:20-32.

Zou G, Zhang T, Cheng X, Igelman AD, Wang J, Qian X, et al.. Noncoding mutation in contributes to inherited retinal degenerations. Mol Vis. 2021;27:95-106.

Qian X, Wang J, Wang M, Igelman AD, Jones KD, Li Y, et al.. Identification of Deep-Intronic Splice Mutations in a Large Cohort of Patients With Inherited Retinal Diseases. Front Genet. 2021;12:647400.

2020
Dharmat R, Kim S, Li Y, Chen R. Single-Cell Capture, RNA-seq, and Transcriptome Analysis from the Neural Retina. Methods Mol Biol. 2020;2092:159-186.

2019
Zou X, Fu Q, Fang S, Li H, Ge Z, Yang L, et al.. PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY. Retina. 2019;39(10):2040-2052.

2018
Ge S, Xia X, Ding C, Zhen B, Zhou Q, Feng J, et al.. Author Correction: A proteomic landscape of diffuse-type gastric cancer. Nat Commun. 2018;9(1):1850.

Ge S, Xia X, Ding C, Zhen B, Zhou Q, Feng J, et al.. A proteomic landscape of diffuse-type gastric cancer. Nat Commun. 2018;9(1):1012.

Dharmat R, Eblimit A, Robichaux MA, Zhang Z, Nguyen T-MT, Jung SYun, et al.. SPATA7 maintains a novel photoreceptor-specific zone in the distal connecting cilium. J Cell Biol. 2018;217(8):2851-2865.

Eblimit A, Zaneveld SAgrawal, Liu W, Thomas K, Wang K, Li Y, et al.. NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype. Exp Eye Res. 2018;173:32-43.

2017
Soens ZT, Branch J, Wu S, Yuan Z, Li Y, Li H, et al.. Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance. Hum Mutat. 2017;38(11):1521-1533.

Dharmat R, Liu W, Ge Z, Sun Z, Yang L, Li Y, et al.. IFT81 as a Candidate Gene for Nonsyndromic Retinal Degeneration. Invest Ophthalmol Vis Sci. 2017;58(5):2483-2490.

Chen Y, Zhao L, Wang Y, Cao M, Gelowani V, Xu M, et al.. SeqCNV: a novel method for identification of copy number variations in targeted next-generation sequencing data. BMC Bioinformatics. 2017;18(1):147.

Fu Q, Xu M, Chen X, Sheng X, Yuan Z, Liu Y, et al.. is mutated in a distinct type of Usher syndrome. J Med Genet. 2017;54(3):190-195.

Agrawal SA, Burgoyne T, Eblimit A, Bellingham J, Parfitt DA, Lane A, et al.. REEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein trafficking. Hum Mol Genet. 2017;26(14):2667-2677.

Yuan Z, Li B, Xu M, Chang EY, Li H, Yang L, et al.. The phenotypic variability of HK1-associated retinal dystrophy. Sci Rep. 2017;7(1):7051.

Xu M, Xie YAngela, Abouzeid H, Gordon CT, Fiorentino A, Sun Z, et al.. Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies. Am J Hum Genet. 2017;100(4):592-604.

2016
Zhang Q, Xu M, Verriotto JD, Li Y, Wang H, Gan L, et al.. Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands. Sci Rep. 2016;6:32792.

Soens ZT, Li Y, Zhao L, Eblimit A, Dharmat R, Li Y, et al.. Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1. Genet Med. 2016;18(10):1044-51.