RUI CHEN to High-Throughput Nucleotide Sequencing
This is a "connection" page, showing publications RUI CHEN has written about High-Throughput Nucleotide Sequencing.
Connection Strength
1.810
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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: 0.357
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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: 0.306
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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: 0.283
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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: 0.277
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Single-Cell Capture, RNA-seq, and Transcriptome Analysis from the Neural Retina. Methods Mol Biol. 2020; 2092:159-186.
Score: 0.109
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Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1. Genet Med. 2016 10; 18(10):1044-51.
Score: 0.083
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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: 0.078
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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: 0.076
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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: 0.072
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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: 0.067
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Exome capture sequencing identifies a novel mutation in BBS4. Mol Vis. 2011; 17:3529-40.
Score: 0.062
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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: 0.025
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Nucleosome fragility reveals novel functional states of chromatin and poises genes for activation. Genome Res. 2011 May; 21(5):718-24.
Score: 0.015