Yumei Li, Ph.D.

Assistant Professor, Department of Molecular and Human Genetics

image:Yumei Li, Ph.D.Contact information

yumeil@bcm.edu

 

 

 

 

 

Publications

2023
Wen S, Wang M, Qian X, Li Y, Wang K, Choi J, et al.. Systematic assessment of the contribution of structural variants to inherited retinal diseases. Hum Mol Genet. 2023;.

Hussain HMuhammad J, Wang M, Huang A, Schmidt R, Qian X, Yang P, et al.. Novel Pathogenic Mutations Identified from Whole-Genome Sequencing in Unsolved Cases of Patients Affected with Inherited Retinal Diseases. Genes (Basel). 2023;14(2).

2022
MacKay H, Gunasekara CJ, Yam K-Y, Srisai D, Yalamanchili HKrishna, Li Y, et al.. Sex-specific epigenetic development in the mouse hypothalamic arcuate nucleus pinpoints human genomic regions associated with body mass index. Sci Adv. 2022;8(39):eabo3991.

Matynia A, Wang J, Kim S, Li Y, Dimashkie A, Jiang Z, et al.. Assessing Variant Causality and Severity Using Retinal Pigment Epithelial Cells Derived from Stargardt Disease Patients. Transl Vis Sci Technol. 2022;11(3):33.

Millo T, Rivera A, Obolensky A, Marks-Ohana D, Xu M, Li Y, et al.. Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamily. Genet Med. 2022;24(7):1523-1535.

Yeung K, Raja KKumar Boll, Shim Y-K, Li Y, Chen R, Mardon G. Single cell RNA sequencing of the adult Drosophila eye reveals distinct clusters and novel marker genes for all major cell types. Commun Biol. 2022;5(1):1370.

Bertrand RElaine, Wang J, Li Y, Cheng X, Wang K, Stoilov P, et al.. Cwc27, associated with retinal degeneration, functions as a splicing factor in vivo. Hum Mol Genet. 2022;31(8):1278-1292.

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
Li Y, Ren P, Dawson A, Vasquez HG, Ageedi W, Zhang C, et al.. Single-Cell Transcriptome Analysis Reveals Dynamic Cell Populations and Differential Gene Expression Patterns in Control and Aneurysmal Human Aortic Tissue. Circulation. 2020;142(14):1374-1388.

Luo W, Wang Y, Zhang L, Ren P, Zhang C, Li Y, et al.. Critical Role of Cytosolic DNA and Its Sensing Adaptor STING in Aortic Degeneration, Dissection, and Rupture. Circulation. 2020;141(1):42-66.

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.

Shurygina MF, Parker MA, Schlechter CL, Chen R, Li Y, Weleber RG, et al.. A case report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants. BMC Ophthalmol. 2019;19(1):246.

Liang Q, Dharmat R, Owen L, Shakoor A, Li Y, Kim S, et al.. Single-nuclei RNA-seq on human retinal tissue provides improved transcriptome profiling. Nat Commun. 2019;10(1):5743.

Gunasekara CJ, C Scott A, Laritsky E, Baker MS, MacKay H, Duryea JD, et al.. A genomic atlas of systemic interindividual epigenetic variation in humans. Genome Biol. 2019;20(1):105.

Kim S, Lowe A, Dharmat R, Lee S, Owen LA, Wang J, et al.. Generation, transcriptome profiling, and functional validation of cone-rich human retinal organoids. Proc Natl Acad Sci U S A. 2019;116(22):10824-10833.