Associated Papers
Screening of Inherited Retinal Disease Patients in a Low-Resource Setting Using an Augmented Next-Generation Sequencing Panel.
Midgley N et al.
Molecular Genetics & Genomic Medicine, 2024
Adaptive Optics Retinal Imaging in RDH12-Associated Early Onset Severe Retinal Dystrophy.
Daich Varela M et al.
Investigative Ophthalmology & Visual Science, 2024
Pseudocoloboma-like maculopathy with biallelic RDH12 missense mutations.
Kuo CY et al.
Journal of Medical Genetics, 2023
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
Panel-based genetic testing for inherited retinal disease screening 176 genes.
Sheck LHN et al.
Molecular Genetics & Genomic Medicine, 2021
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Lenassi E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Natural History and Genotype-Phenotype Correlations in RDH12-Associated Retinal Degeneration.
Fahim AT et al.
Advances in Experimental Medicine and Biology, 2019
Molecular findings from 537 individuals with inherited retinal disease.
Ellingford JM et al.
Journal of Medical Genetics, 2016
Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.
Watson CM et al.
Plos One, 2014
RDH12 retinopathy: novel mutations and phenotypic description.
Mackay DS et al.
Molecular Vision, 2011
Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluations.
Sun W et al.
Vision Research, 2007