Associated Papers
A survey of genotypes associated with Leber congenital amaurosis and early-onset severe retinal degeneration identified in a Singaporean patient cohort.
Farooqui SZ et al.
Ophthalmic Genetics, 2025
Retinal Degeneration Associated With Biallelic RDH12 Variants: Longitudinal Evaluation of Retinal Structure and Visual Function in Pediatric Patients.
Aleman TS et al.
Investigative Ophthalmology & Visual Science, 2024
Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes.
Abu Elasal M et al.
Genes, 2024
Simultaneous Detection of Common Founder Mutations Using a Cost-Effective Deep Sequencing Panel.
Shalom S et al.
Genes, 2024
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ et al.
Biomolecules, 2024
Avidity sequencing of whole genomes from retinal degeneration pedigrees identifies causal variants.
Biswas P et al.
Plos One, 2024
Next-generation sequencing--based genetic testing and phenotype correlation in retinitis pigmentosa patients from India.
Sen P et al.
Indian Journal of Ophthalmology, 2023
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A et al.
Human Mutation, 2022
Multi-omics analysis identifies osteosarcoma subtypes with distinct prognosis indicating stratified treatment.
Jiang Y et al.
Nature Communications, 2022
Clinical and Genetic Analysis of RDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy.
Wang J et al.
Investigative Ophthalmology & Visual Science, 2022
Associations Between Fundus Types and Clinical Manifestations in Patients with RDH12 Gene Mutations.
Jin J et al.
Brain Topography, 2022
RDH12 retinopathy: clinical features, biology, genetics and future directions.
Daich Varela M et al.
Ophthalmic Genetics, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Regional differences in genes and variants causing retinitis pigmentosa in Japan.
Koyanagi Y et al.
Japanese Journal of Ophthalmology, 2021
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.
Ma DJ et al.
Bmc Medical Genomics, 2021
Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan.
Chen TC et al.
Npj Genomic Medicine, 2021
Report from a Workshop on Accelerating the Development of Treatments for Inherited Retinal Dystrophies Associated with Mutations in the RDH12 Gene.
Sofia F et al.
Translational Vision Science & Technology, 2020
Detailed clinical characterisation, unique features and natural history of autosomal recessive RDH12-associated retinal degeneration.
Fahim AT et al.
The British Journal of Ophthalmology, 2019
PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY.
Zou X et al.
Retina (philadelphia, Pa.), 2019
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
Natural History and Genotype-Phenotype Correlations in RDH12-Associated Retinal Degeneration.
Fahim AT et al.
Advances in Experimental Medicine and Biology, 2019
Structural Insights into the Drosophila melanogaster Retinol Dehydrogenase, a Member of the Short-Chain Dehydrogenase/Reductase Family.
Hofmann L et al.
Biochemistry, 2016
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.
Ge Z et al.
Scientific Reports, 2015
Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies.
Beryozkin A et al.
Scientific Reports, 2015
Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations.
Sharon D et al.
Molecular Vision, 2015
Longitudinal clinical course of three Japanese patients with Leber congenital amaurosis/early-onset retinal dystrophy with RDH12 mutation.
Kuniyoshi K et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2014
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
Eisenberger T et al.
Plos One, 2013
Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping.
Benayoun L et al.
American Journal of Medical Genetics. Part A, 2009