RUI CHEN to Phenotype
This is a "connection" page, showing publications RUI CHEN has written about Phenotype.
Connection Strength
0.513
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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: 0.111
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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: 0.072
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Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa. Am J Hum Genet. 2016 Dec 01; 99(6):1305-1315.
Score: 0.066
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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: 0.057
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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: 0.057
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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: 0.053
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High-precision, whole-genome sequencing of laboratory strains facilitates genetic studies. PLoS Genet. 2008 Aug 01; 4(8):e1000139.
Score: 0.037
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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: 0.019
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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: 0.015
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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: 0.015
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MAPK target sites of eyes absent are not required for eye development or survival in Drosophila. PLoS One. 2012; 7(12):e50776.
Score: 0.012