Associated Papers
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
37127645 (PubMed )
Supplement: 12920_2023_1518_MOESM2_ESM.xlsx › Sheet1
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
36460718 (PubMed )
Supplement: 41598_2022_24636_MOESM2_ESM.xlsx › Supplementary_Table_S1
A mouse model of cone photoreceptor function loss (cpfl9) with degeneration due to a mutation in Gucy2e.
Naggert ASEN et al.
Frontiers in Molecular Neuroscience, 2022
Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort.
Moon D et al.
Genes, 2021
Safety and improved efficacy signals following gene therapy in childhood blindness caused by GUCY2D mutations.
Jacobson SG et al.
Iscience, 2021
GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies.
Bouzia Z et al.
American Journal of Ophthalmology, 2020
Prevalence of mutations in inherited retinal diseases: A comparison between the United States and India.
Yohe S et al.
Molecular Genetics & Genomic Medicine, 2020
31816670 (PubMed )
Supplement: MGG3-8-e1081-s001.xlsx › RD_Panel
Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D.
Sharon D et al.
Progress in Retinal and Eye Research, 2018
Genetic profile and mutation spectrum of Leber congenital amaurosis in a larger Indian cohort using high throughput targeted re-sequencing.
Srikrupa NN et al.
Clinical Genetics, 2018
Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.
Wang H et al.
Investigative Ophthalmology & Visual Science, 2015
Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay.
Khan AO et al.
The British Journal of Ophthalmology, 2014
Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.
Walia S et al.
Ophthalmology, 2010
Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.
Sundaresan P et al.
Molecular Vision, 2009
Mutation survey of known LCA genes and loci in the Saudi Arabian population.
Li Y et al.
Investigative Ophthalmology & Visual Science, 2009
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