List of works - Hui Wang

A Functional Variomics Tool for Discovering Drug-Resistance Genes and Drug Targets ⬇️

scientific article published on February 14, 2013

A missense mutation in HK1 leads to autosomal dominant retinitis pigmentosa

scientific article

ATF6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular Involvement

scientific article published on June 2015

Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort

scientific article published on June 2015

Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisions

scientific article

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing

scientific article published on 11 July 2013

Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients

scientific article

Evaluation of the coverage and depth of transcriptome by RNA-Seq in chickens

scientific article

Evolutionary and Biomedical Insights from the Rhesus Macaque Genome

scientific article

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

scientific article

Exome capture sequencing identifies a novel mutation in BBS4 ⬇️

scientific article published on December 30, 2011

Genome-wide DNA binding pattern of the homeodomain transcription factor Sine oculis (So) in the developing eye of Drosophila melanogaster

scientific article

Hepatoma-derived growth factor-related protein-3 is a novel angiogenic factor

scientific article published on 21 May 2015

High-throughput multiplex sequencing to discover copy number variants in Drosophila

scientific article published on 15 June 2009

Mutation survey of known LCA genes and loci in the Saudi Arabian population

scientific article published on 20 October 2008

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

scientific article

Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa

scientific article published on 05 March 2009

NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.

scientific article

Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients

scientific article

Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands

scientific article published on 06 September 2016

Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa

scientific article

Postnatal epigenetic regulation of intestinal stem cells requires DNA methylation and is guided by the microbiome

scientific article published on 30 September 2015

Rapid identification of heterozygous mutations in Drosophila melanogaster using genomic capture sequencing

scientific article

Secretogranin III as a disease-associated ligand for antiangiogenic therapy of diabetic retinopathy

scientific article published on 22 March 2017

The Drosophila melanogaster transcriptome by paired-end RNA sequencing

scientific article

Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis

scientific article published on 23 September 2011

List of works by Hui Wang

A Functional Variomics Tool for Discovering Drug-Resistance Genes and Drug Targets ⬇️

A missense mutation in HK1 leads to autosomal dominant retinitis pigmentosa

ATF6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular Involvement

Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort

Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisions

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing

Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients

Evaluation of the coverage and depth of transcriptome by RNA-Seq in chickens

Evolutionary and Biomedical Insights from the Rhesus Macaque Genome

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

Exome capture sequencing identifies a novel mutation in BBS4 ⬇️

Genome-wide DNA binding pattern of the homeodomain transcription factor Sine oculis (So) in the developing eye of Drosophila melanogaster

Hepatoma-derived growth factor-related protein-3 is a novel angiogenic factor

High-throughput multiplex sequencing to discover copy number variants in Drosophila

Mutation survey of known LCA genes and loci in the Saudi Arabian population

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa

NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.

Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients

Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands

Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa

Postnatal epigenetic regulation of intestinal stem cells requires DNA methylation and is guided by the microbiome

Rapid identification of heterozygous mutations in Drosophila melanogaster using genomic capture sequencing

Secretogranin III as a disease-associated ligand for antiangiogenic therapy of diabetic retinopathy

The Drosophila melanogaster transcriptome by paired-end RNA sequencing

Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis