Yumei Li, Ph.D.
Publications
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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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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Gene Therapy Rescues Retinal Degeneration in Receptor Expression-Enhancing Protein 6 Mutant Mice. Hum Gene Ther. 2019;30(3):302-315.
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A genomic atlas of systemic interindividual epigenetic variation in humans. Genome Biol. 2019;20(1):105.
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A nonhuman primate model of inherited retinal disease. J Clin Invest. 2019;129(2):863-874.
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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 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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Author Correction: A proteomic landscape of diffuse-type gastric cancer. Nat Commun. 2018;9(1):1850.
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A proteomic landscape of diffuse-type gastric cancer. Nat Commun. 2018;9(1):1012.
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Integrative genomic analysis reveals novel regulatory mechanisms of eyeless during Drosophila eye development. Nucleic Acids Res. 2018;46(22):11743-11758.
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SPATA7 maintains a novel photoreceptor-specific zone in the distal connecting cilium. J Cell Biol. 2018;217(8):2851-2865.
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NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype. Exp Eye Res. 2018;173:32-43.
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IFT81 as a Candidate Gene for Nonsyndromic Retinal Degeneration. Invest Ophthalmol Vis Sci. 2017;58(5):2483-2490.
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SeqCNV: a novel method for identification of copy number variations in targeted next-generation sequencing data. BMC Bioinformatics. 2017;18(1):147.
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is mutated in a distinct type of Usher syndrome. J Med Genet. 2017;54(3):190-195.
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