Yumei Li, Ph.D.
Publications
Systematic assessment of the contribution of structural variants to inherited retinal diseases. Hum Mol Genet. 2023;.
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Assessing Variant Causality and Severity Using Retinal Pigment Epithelial Cells Derived from Stargardt Disease Patients. Transl Vis Sci Technol. 2022;11(3):33.
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Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamily. Genet Med. 2022;24(7):1523-1535.
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Cwc27, associated with retinal degeneration, functions as a splicing factor in vivo. Hum Mol Genet. 2022;31(8):1278-1292.
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Transcript isoforms of Reep6 have distinct functions in the retina. Hum Mol Genet. 2021;30(21):1907-1918.
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Noncoding mutation in contributes to inherited retinal degenerations. Mol Vis. 2021;27:95-106.
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Identification of Deep-Intronic Splice Mutations in a Large Cohort of Patients With Inherited Retinal Diseases. Front Genet. 2021;12:647400.
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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.
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Critical Role of Cytosolic DNA and Its Sensing Adaptor STING in Aortic Degeneration, Dissection, and Rupture. Circulation. 2020;141(1):42-66.
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Single-Cell Capture, RNA-seq, and Transcriptome Analysis from the Neural Retina. Methods Mol Biol. 2020;2092:159-186.
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PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY. Retina. 2019;39(10):2040-2052.
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A case report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants. BMC Ophthalmol. 2019;19(1):246.
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Single-nuclei RNA-seq on human retinal tissue provides improved transcriptome profiling. Nat Commun. 2019;10(1):5743.
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A genomic atlas of systemic interindividual epigenetic variation in humans. Genome Biol. 2019;20(1):105.
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Generation, transcriptome profiling, and functional validation of cone-rich human retinal organoids. Proc Natl Acad Sci U S A. 2019;116(22):10824-10833.
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