about
Evolutionary and Biomedical Insights from the Rhesus Macaque GenomeExome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signalingMutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degenerationA functional variomics tool for discovering drug-resistance genes and drug targets.Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa.Rapid identification of heterozygous mutations in Drosophila melanogaster using genomic capture sequencing.Genome-wide DNA binding pattern of the homeodomain transcription factor Sine oculis (So) in the developing eye of Drosophila melanogaster.Evaluation of the coverage and depth of transcriptome by RNA-Seq in chickens.A missense mutation in HK1 leads to autosomal dominant retinitis pigmentosa.The Drosophila melanogaster transcriptome by paired-end RNA sequencing.Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patientsComprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisionsHepatoma-derived growth factor-related protein-3 is a novel angiogenic factor.Exome capture sequencing identifies a novel mutation in BBS4Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.ATF6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular Involvement.Postnatal epigenetic regulation of intestinal stem cells requires DNA methylation and is guided by the microbiomeComprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.Mutation survey of known LCA genes and loci in the Saudi Arabian populationNext-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probandsHigh-throughput multiplex sequencing to discover copy number variants in DrosophilaComprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.Secretogranin III as a disease-associated ligand for antiangiogenic therapy of diabetic retinopathy
P50
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P50
name
Hui Wang
@en
type
label
Hui Wang
@en
prefLabel
Hui Wang
@en