RUI CHEN to Mutation
This is a "connection" page, showing publications RUI CHEN has written about Mutation.
Connection Strength
1.100
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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: 0.188
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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: 0.184
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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: 0.181
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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: 0.145
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Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1. Genet Med. 2016 10; 18(10):1044-51.
Score: 0.049
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ADIPOR1 Is Mutated in Syndromic Retinitis Pigmentosa. Hum Mutat. 2016 Mar; 37(3):246-9.
Score: 0.049
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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: 0.047
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TET2 mutations predict response to hypomethylating agents in myelodysplastic syndrome patients. Blood. 2014 Oct 23; 124(17):2705-12.
Score: 0.045
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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: 0.042
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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: 0.041
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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: 0.041
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Keeping an eye on the fly genome. Dev Biol. 2005 Jun 15; 282(2):285-93.
Score: 0.024
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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: 0.012
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Bacterial discrimination by dictyostelid amoebae reveals the complexity of ancient interspecies interactions. Curr Biol. 2013 May 20; 23(10):862-72.
Score: 0.010
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Drosophila signal peptidase complex member Spase12 is required for development and cell differentiation. PLoS One. 2013; 8(4):e60908.
Score: 0.010
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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: 0.010
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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: 0.010
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Evolutionary and biomedical insights from the rhesus macaque genome. Science. 2007 Apr 13; 316(5822):222-34.
Score: 0.007
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Dual regulation and redundant function of two eye-specific enhancers of the Drosophila retinal determination gene dachshund. Development. 2005 Jun; 132(12):2895-905.
Score: 0.006