Publications
Filters: Author is Chen, Rui [Clear All Filters]
Large conserved domains of low DNA methylation maintained by Dnmt3a. Nat Genet. 2014 ;46(1):17-23.
. Knockout of mouse receptor accessory protein 6 leads to sperm function and morphology defects†. Biol Reprod. 2020 ;102(6):1234-1247.
. Keeping an eye on the fly genome. Dev Biol. 2005 ;282(2):285-93.
. Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination. Am J Hum Genet. 2016 ;99(2):470-80.
. Investigating the disease association of USH2A p.C759F variant by leveraging large retinitis pigmentosa cohort data. Ophthalmic Genet. 2018 ;39(2):291-292.
. Integrative subcellular proteomic analysis allows accurate prediction of human disease-causing genes. Genome Res. 2016 ;26(5):660-9.
. Integrative genomic analysis reveals novel regulatory mechanisms of eyeless during Drosophila eye development. Nucleic Acids Res. 2018 ;46(22):11743-11758.
. Integrated multi-omics single cell atlas of the human retina. Res Sq. 2023 ;.
. IFT81 as a Candidate Gene for Nonsyndromic Retinal Degeneration. Invest Ophthalmol Vis Sci. 2017 ;58(5):2483-2490.
. Identification of novel direct targets of Drosophila Sine oculis and Eyes absent by integration of genome-wide data sets. Dev Biol. 2016 ;415(1):157-167.
. Identification of differentially expressed miRNAs in chicken lung and trachea with avian influenza virus infection by a deep sequencing approach. BMC Genomics. 2009 ;10:512.
. Identification of Deep-Intronic Splice Mutations in a Large Cohort of Patients With Inherited Retinal Diseases. Front Genet. 2021 ;12:647400.
. Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamily. Genet Med. 2022 ;24(7):1523-1535.
. Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1. Genet Med. 2016 ;18(10):1044-51.
. A homozygous missense mutation in NEUROD1 is associated with nonsyndromic autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2014 ;56(1):150-5.
. High-throughput multiplex sequencing to discover copy number variants in Drosophila. Genetics. 2009 ;182(4):935-41.
. High-precision, whole-genome sequencing of laboratory strains facilitates genetic studies. PLoS Genet. 2008 ;4(8):e1000139.
. A heterozygous mutation in RPGR associated with X-linked retinitis pigmentosa in a patient with Turner syndrome mosaicism (45,X/46,XX). Am J Med Genet A. 2018 ;176(1):214-218.
. Hemichordate genomes and deuterostome origins. Nature. 2015 ;527(7579):459-65.
. GRIPT: a novel case-control analysis method for Mendelian disease gene discovery. Genome Biol. 2018 ;19(1):203.
. Global Gene Expression Analysis Reveals Complex Cuticle Organization of the Tribolium Compound Eye. Genome Biol Evol. 2023 ;15(1).
. A genomic atlas of systemic interindividual epigenetic variation in humans. Genome Biol. 2019 ;20(1):105.
. Genome-wide identification of direct targets of the Drosophila retinal determination protein Eyeless. Genome Res. 2006 ;16(4):466-76.
. Genome-wide DNA binding pattern of the homeodomain transcription factor Sine oculis (So) in the developing eye of . Genom Data. 2014 ;2:153-155.
. Genome sequence of the Brown Norway rat yields insights into mammalian evolution. Nature. 2004 ;428(6982):493-521.
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