Dror Sharon

RetiGene, a comprehensive gene atlas for inherited retinal diseases

Characterizing the Genetic Basis for Inherited Retinal Disease: Lessons Learned From the Foundation Fighting Blindness Clinical Consortium's Gene Poll

Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy

Biallelic null variants in C19orf44 cause a unique late-onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophy

Founder Homozygous Nonsense <i>CREB3</i> Variant and Variable-Onset Retinal Degeneration

Non-coding single-nucleotide and structural variants affecting the EYS putative promoter cause autosomal recessive retinitis pigmentosa

Fine-tuning FAM161A gene augmentation therapy to restore retinal function

Nationwide Prevalence of Inherited Retinal Diseases in the Israeli Population

Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration

Representation of Women Among Individuals With Mild Variants in <i>ABCA4</i>-Associated Retinopathy

A pipeline for identifying guide RNA sequences that promote RNA editing of nonsense mutations that cause inherited retinal diseases

Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes

Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study

Best Disease: Global Mutations Review, Genotype–Phenotype Correlation, and Prevalence Analysis in the Israeli Population

A Leaky Deep Intronic Splice Variant in CLRN1 Is Associated with Non-Syndromic Retinitis Pigmentosa

Genetic and Clinical Analyses of the KIZ-c.226C&gt;T Variant Resulting in a Dual Mutational Mechanism

Simultaneous Detection of Common Founder Mutations Using a Cost-Effective Deep Sequencing Panel

Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction

Whole exome sequencing of 491 individuals with inherited retinal diseases reveals a large spectrum of variants and identification of novel candidate genes

Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability

An In-Depth Single-Gene Worldwide Carrier Frequency and Genetic Prevalence Analysis of <i>CYP4V2</i> as the Cause of Bietti Crystalline Dystrophy

Gene augmentation therapy attenuates retinal degeneration in a knockout mouse model of Fam161a retinitis pigmentosa

Factors Affecting Readthrough of Natural Versus Premature Termination Codons

Exonic Variants that Affect Splicing – An Opportunity for “Hidden” Mutations Causing Inherited Retinal Diseases

Homozygous Knockout of <i>Cep250</i> Leads to a Relatively Late-Onset Retinal Degeneration and Sensorineural Hearing Loss in Mice

Morphological and Functional Comparison of Mice Models for Retinitis Pigmentosa

Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease−associated genes

Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamily

Translational Read-Through Drugs (TRIDs) Are Able to Restore Protein Expression and Ciliogenesis in Fibroblasts of Patients with Retinitis Pigmentosa Caused by a Premature Termination Codon in FAM161A

Retinal Structure and Function in a Knock-in Mouse Model for the FAM161A-p.Arg523∗ Human Nonsense Pathogenic Variant