Yumei Li, Ph.D.
Publications
REEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein trafficking. Hum Mol Genet. 2017;26(14):2667-2677.
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The phenotypic variability of HK1-associated retinal dystrophy. Sci Rep. 2017;7(1):7051.
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Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies. Am J Hum Genet. 2017;100(4):592-604.
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Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands. Sci Rep. 2016;6:32792.
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Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1. Genet Med. 2016;18(10):1044-51.
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Integrative subcellular proteomic analysis allows accurate prediction of human disease-causing genes. Genome Res. 2016;26(5):660-9.
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ADIPOR1 Is Mutated in Syndromic Retinitis Pigmentosa. Hum Mutat. 2016;37(3):246-9.
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Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa. Am J Hum Genet. 2016;99(6):1305-1315.
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Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa. Hum Mol Genet. 2016;25(8):1479-88.
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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.
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Mutations in human IFT140 cause non-syndromic retinal degeneration. Hum Genet. 2015;134(10):1069-78.
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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.
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ATF6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular Involvement. Invest Ophthalmol Vis Sci. 2015;56(6):3889-95.
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Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. Invest Ophthalmol Vis Sci. 2015;56(6):3642-55.
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A missense mutation in HK1 leads to autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2014;55(11):7159-64.
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Large-scale identification of chemically induced mutations in Drosophila melanogaster. Genome Res. 2014;24(10):1707-18.
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