RUI CHEN to Alleles
This is a "connection" page, showing publications RUI CHEN has written about Alleles.
Connection Strength
0.614
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A novel statistical method for interpreting the pathogenicity of rare variants. Genet Med. 2021 01; 23(1):59-68.
Score: 0.119
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NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype. Exp Eye Res. 2018 08; 173:32-43.
Score: 0.101
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Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa. Am J Hum Genet. 2016 Dec 01; 99(6):1305-1315.
Score: 0.092
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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: 0.074
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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: 0.073
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optix functions as a link between the retinal determination network and the dpp pathway to control morphogenetic furrow progression in Drosophila. Dev Biol. 2013 Sep 01; 381(1):50-61.
Score: 0.072
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Exome capture sequencing identifies a novel mutation in BBS4. Mol Vis. 2011; 17:3529-40.
Score: 0.065
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A functional variomics tool for discovering drug-resistance genes and drug targets. Cell Rep. 2013 Feb 21; 3(2):577-85.
Score: 0.018