RUI CHEN to Humans
This is a "connection" page, showing publications RUI CHEN has written about Humans.
Connection Strength
0.440
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Genetic diversity of 1,845 rhesus macaques improves genetic variation interpretation and identifies disease models. Nat Commun. 2024 Jul 05; 15(1):5658.
Score: 0.024
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Single-cell multiomics of the human retina reveals hierarchical transcription factor collaboration in mediating cell type-specific effects of genetic variants on gene regulation. Genome Biol. 2023 11 27; 24(1):269.
Score: 0.023
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Single-cell transcriptomics identifies limbal stem cell population and cell types mapping its differentiation trajectory in limbal basal epithelium of human cornea. Ocul Surf. 2021 04; 20:20-32.
Score: 0.019
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A novel statistical method for interpreting the pathogenicity of rare variants. Genet Med. 2021 01; 23(1):59-68.
Score: 0.018
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Single-Cell Capture, RNA-seq, and Transcriptome Analysis from the Neural Retina. Methods Mol Biol. 2020; 2092:159-186.
Score: 0.017
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Single-nuclei RNA-seq on human retinal tissue provides improved transcriptome profiling. Nat Commun. 2019 12 17; 10(1):5743.
Score: 0.017
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GRIPT: a novel case-control analysis method for Mendelian disease gene discovery. Genome Biol. 2018 11 26; 19(1):203.
Score: 0.016
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SeqCNV: a novel method for identification of copy number variations in targeted next-generation sequencing data. BMC Bioinformatics. 2017 Mar 03; 18(1):147.
Score: 0.014
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Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa. Am J Hum Genet. 2016 Dec 01; 99(6):1305-1315.
Score: 0.014
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Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1. Genet Med. 2016 10; 18(10):1044-51.
Score: 0.013
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Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa. Hum Mol Genet. 2016 Apr 15; 25(8):1479-88.
Score: 0.013
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ADIPOR1 Is Mutated in Syndromic Retinitis Pigmentosa. Hum Mutat. 2016 Mar; 37(3):246-9.
Score: 0.013
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Mutations in human IFT140 cause non-syndromic retinal degeneration. Hum Genet. 2015 Oct; 134(10):1069-78.
Score: 0.013
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ATF6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular Involvement. Invest Ophthalmol Vis Sci. 2015 Jun; 56(6):3889-95.
Score: 0.013
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Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients. Invest Ophthalmol Vis Sci. 2015 Feb 24; 56(3):1937-46.
Score: 0.012
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Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland. Hum Genet. 2015 Feb; 134(2):217-30.
Score: 0.012
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Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisions. Genet Med. 2015 Apr; 17(4):262-70.
Score: 0.012
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A homozygous missense mutation in NEUROD1 is associated with nonsyndromic autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2014 Dec 04; 56(1):150-5.
Score: 0.012
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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 Mar 15; 24(6):1584-601.
Score: 0.012
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A missense mutation in HK1 leads to autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2014 Oct 14; 55(11):7159-64.
Score: 0.012
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Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements. Hum Genet. 2014 Mar; 133(3):331-45.
Score: 0.011
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Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. J Med Genet. 2013 Oct; 50(10):674-88.
Score: 0.011
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Dawn of ocular gene therapy: implications for molecular diagnosis in retinal disease. Sci China Life Sci. 2013 Feb; 56(2):125-33.
Score: 0.011
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Exome capture sequencing identifies a novel mutation in BBS4. Mol Vis. 2011; 17:3529-40.
Score: 0.010
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Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis. Hum Mutat. 2011 Dec; 32(12):1450-9.
Score: 0.010
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Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa. Am J Hum Genet. 2009 Mar; 84(3):380-7.
Score: 0.008
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Comparing vertebrate whole-genome shotgun reads to the human genome. Genome Res. 2001 Nov; 11(11):1807-16.
Score: 0.005
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Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy. Genet Med. 2021 03; 23(3):488-497.
Score: 0.005
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Generation, transcriptome profiling, and functional validation of cone-rich human retinal organoids. Proc Natl Acad Sci U S A. 2019 05 28; 116(22):10824-10833.
Score: 0.004
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Transcriptome-Wide Analysis of Human Chondrocyte Expansion on Synoviocyte Matrix. Cells. 2019 01 24; 8(2).
Score: 0.004
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Diagnostic value of a combination of next-generation sequencing, chorioretinal imaging and metabolic analysis: lessons from a consanguineous Chinese family with gyrate atrophy of the choroid and retina stemming from a novel OAT variant. Br J Ophthalmol. 2019 03; 103(3):428-435.
Score: 0.004
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Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies. Am J Hum Genet. 2017 Apr 06; 100(4):592-604.
Score: 0.004
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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 Sep 04; 10:110.
Score: 0.003
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Whole exome sequencing confirms the clinical diagnosis of Marfan syndrome combined with X-linked hypophosphatemia. J Transl Med. 2015 Jun 04; 13:179.
Score: 0.003
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Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. Invest Ophthalmol Vis Sci. 2015 Jun; 56(6):3642-55.
Score: 0.003
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Progesterone receptor transcriptome and cistrome in decidualized human endometrial stromal cells. Endocrinology. 2015 Jun; 156(6):2239-53.
Score: 0.003
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CRISPR-engineered mosaicism rapidly reveals that loss of Kcnj13 function in mice mimics human disease phenotypes. Sci Rep. 2015 Feb 10; 5:8366.
Score: 0.003
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A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. Cell. 2014 Sep 25; 159(1):200-214.
Score: 0.003
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TET2 mutations predict response to hypomethylating agents in myelodysplastic syndrome patients. Blood. 2014 Oct 23; 124(17):2705-12.
Score: 0.003
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Notch activation as a driver of osteogenic sarcoma. Cancer Cell. 2014 Sep 08; 26(3):390-401.
Score: 0.003
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Comparison and quantitative verification of mapping algorithms for whole-genome bisulfite sequencing. Nucleic Acids Res. 2014 Apr; 42(6):e43.
Score: 0.003
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Large conserved domains of low DNA methylation maintained by Dnmt3a. Nat Genet. 2014 Jan; 46(1):17-23.
Score: 0.003
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Direct regulation of GTP homeostasis by (p)ppGpp: a critical component of viability and stress resistance. Mol Cell. 2012 Oct 26; 48(2):231-41.
Score: 0.003
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Analysis of the human endogenous coregulator complexome. Cell. 2011 May 27; 145(5):787-99.
Score: 0.002
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Human telomeric proteins occupy selective interstitial sites. Cell Res. 2011 Jul; 21(7):1013-27.
Score: 0.002
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Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis. Hum Genet. 2011 Mar; 129(3):319-27.
Score: 0.002
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Genome-wide reinforcement of cohesin binding at pre-existing cohesin sites in response to ionizing radiation in human cells. J Biol Chem. 2010 Jul 23; 285(30):22784-92.
Score: 0.002
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Evolutionary and biomedical insights from the rhesus macaque genome. Science. 2007 Apr 13; 316(5822):222-34.
Score: 0.002
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The DNA sequence, annotation and analysis of human chromosome 3. Nature. 2006 Apr 27; 440(7088):1194-8.
Score: 0.002
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The finished DNA sequence of human chromosome 12. Nature. 2006 03 16; 440(7082):346-51.
Score: 0.002
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The DNA sequence of the human X chromosome. Nature. 2005 Mar 17; 434(7031):325-37.
Score: 0.002
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Genome sequence of the Brown Norway rat yields insights into mammalian evolution. Nature. 2004 04 01; 428(6982):493-521.
Score: 0.001
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A clone-array pooled shotgun strategy for sequencing large genomes. Genome Res. 2001 Oct; 11(10):1619-23.
Score: 0.001