Area of research
Molecular Biology · Ophthalmology
Research interest
Research interests include Biology, Genetics, Macular degeneration, Medicine, Retina, and Quantitative trait locus.
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
Integrating genetic regulation and single-cell expression with GWAS prioritizes causal genes and cell types for glaucoma
QTL mapping of human retina DNA methylation identifies 87 gene-epigenome interactions in age-related macular degeneration
QTL mapping of human retina DNA methylation identifies 87 gene-epigenome interactions in age-related macular degeneration
QTL mapping of human retina DNA methylation identifies 87 gene-epigenome interactions in age-related macular degeneration
QTL mapping of human retina DNA methylation identifies 87 gene-epigenome interactions in age-related macular degeneration
Long wavelength-sensing cones of zebrafish retina exhibit multiple layers of transcriptional heterogeneity
QTL mapping of human retina DNA methylation identifies 87 gene-epigenome interactions in age-related macular degeneration
Expression and subcellular localization of <i>USH1C</i> /harmonin in human retina provides insights into pathomechanisms and therapy
Proneural genes define ground-state rules to regulate neurogenic patterning and cortical folding
Retinal Degeneration Associated With RPGRIP1: A Review of Natural History, Mutation Spectrum, and Genotype–Phenotype Correlation in 228 Patients
Transcriptional distinctions between LWS cone subtypes are regulated by thyroid hormone in zebrafish
Investigative Ophthalmology & Visual Science 2021cited by 0position: middle
A mega-analysis of expression quantitative trait loci in retinal tissue
Integration of genomics and transcriptomics predicts diabetic retinopathy susceptibility genes
A unique <i>PRDM13</i>-associated variant in a Georgian Jewish family with probable North Carolina macular dystrophy and the possible contribution of a unique <i>CFH</i> variant.
PubMed 2020cited by 16position: middle
Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration
Assessment of Novel Genome-Wide Significant Gene Loci and Lesion Growth in Geographic Atrophy Secondary to Age-Related Macular Degeneration
The combination of whole‐exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies
Transcriptome analysis of adult zebrafish LWS1 vs LWS2 (long wavelength sensitive) cones
Investigative Ophthalmology & Visual Science 2019cited by 0position: last
Progression of Geographic Atrophy in Age-related Macular Degeneration
Genome-wide analysis of disease progression in age-related macular degeneration
In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations
Next-generation genotype imputation service and methods
Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss
Bi-allelic Truncating Mutations in CEP78 , Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss
Clinical and Genetic Factors Associated with Progression of Geographic Atrophy Lesions in Age-Related Macular Degeneration
Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in<i>ALMS1</i>and<i>DYSF</i>
Genetic and clinical factors associated with progression of geographic atrophy in age-related macular degeneration
Investigative Ophthalmology & Visual Science 2015cited by 0position: middle