Lista de obras -

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

artículo científico publicado el 14 de febrero de 2013

A missense mutation in HK1 leads to autosomal dominant retinitis pigmentosa

artículo científico publicado en 2014

ATF6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular Involvement

artículo científico publicado en 2015

Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 2011

Evolutionary and Biomedical Insights from the Rhesus Macaque Genome

artículo científico publicado en 2007

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

artículo científico publicado en 2012

Exome capture sequencing identifies a novel mutation in BBS4 ⬇️

artículo científico publicado el 30 de diciembre de 2011

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2009

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

artículo científico publicado en 2008

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

artículo científico publicado en 2012

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.

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 2010

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

artículo científico publicado en 2017

The Drosophila melanogaster transcriptome by paired-end RNA sequencing

artículo científico publicado en 2010

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

artículo científico publicado en 2011

Lista de obras de

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