Yumei Li, Ph.D.

Assistant Professor, Department of Molecular and Human Genetics

Yumei Li, Ph.D.Contact information

yumeil@bcm.edu

 

 

 

 

 

Publications

2017
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.

Zhao L, Chen Y, Bajaj AOnkar, Eblimit A, Xu M, Soens ZT, et al.. Integrative subcellular proteomic analysis allows accurate prediction of human disease-causing genes. Genome Res. 2016;26(5):660-9.

Xu M, Eblimit A, Wang J, Li J, Wang F, Zhao L, et al.. ADIPOR1 Is Mutated in Syndromic Retinitis Pigmentosa. Hum Mutat. 2016;37(3):246-9.

Tajiguli A, Xu M, Fu Q, Yiming R, Wang K, Li Y, et al.. Next-generation sequencing-based molecular diagnosis of 12 inherited retinal disease probands of Uyghur ethnicity. Sci Rep. 2016;6:21384.

Arno G, Agrawal SA, Eblimit A, Bellingham J, Xu M, Wang F, et al.. Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa. Am J Hum Genet. 2016;99(6):1305-1315.

Xu M, Yamada T, Sun Z, Eblimit A, Lopez I, Wang F, et al.. Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa. Hum Mol Genet. 2016;25(8):1479-88.

2015
Jiang L, Liang X, Li Y, Wang J, Zaneveld JEric, Wang H, et al.. Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients. Orphanet J Rare Dis. 2015;10:110.

Xu M, Yang L, Wang F, Li H, Wang X, Wang W, et al.. Mutations in human IFT140 cause non-syndromic retinal degeneration. Hum Genet. 2015;134(10):1069-78.

Eblimit A, Nguyen T-MT, Chen Y, Esteve-Rudd J, Zhong H, Letteboer S, 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.

Xu M, Gelowani V, Eblimit A, Wang F, Young MP, Sawyer BL, et al.. ATF6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular Involvement. Invest Ophthalmol Vis Sci. 2015;56(6):3889-95.

Wang H, Wang X, Zou X, Xu S, Li H, Soens ZTore, et al.. Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. Invest Ophthalmol Vis Sci. 2015;56(6):3642-55.

Zhong H, Chen Y, Li Y, Chen R, Mardon G. CRISPR-engineered mosaicism rapidly reveals that loss of Kcnj13 function in mice mimics human disease phenotypes. Sci Rep. 2015;5:8366.

Zaneveld J, Siddiqui S, Li H, Wang X, Wang H, Wang K, et al.. Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisions. Genet Med. 2015;17(4):262-70.

2014
Wang F, Wang Y, Zhang B, Zhao L, Lyubasyuk V, Wang K, et al.. A missense mutation in HK1 leads to autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2014;55(11):7159-64.

Haelterman NA, Jiang L, Li Y, Bayat V, Sandoval H, Ugur B, et al.. Large-scale identification of chemically induced mutations in Drosophila melanogaster. Genome Res. 2014;24(10):1707-18.

Wang F, Wang H, Tuan H-F, Nguyen DH, Sun V, Keser V, et al.. Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements. Hum Genet. 2014;133(3):331-45.