Associated Papers
GUCY2D-Associated Retinopathy: A Comparative Study Between Humans and German Spitz Dogs.
Guareschi BLV et al.
Veterinary Sciences, 2025
Panel-Based Genetic Testing in a Consecutive Series of Individuals with Inherited Retinal Diseases in Australia: Identifying Predictors of a Diagnosis.
Britten-Jones AC et al.
Genes, 2025
Clinical and Biochemical Characterization of Specific GUCY2D Alleles Associated With a Rare Form of Night Blindness.
Ba-Abbad R et al.
Investigative Ophthalmology & Visual Science, 2025
Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort.
Vincke L et al.
Npj Genomic Medicine, 2025
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.
Heutinck PAT et al.
Investigative Ophthalmology & Visual Science, 2024
A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.
Munir A et al.
Bmc Ophthalmology, 2024
Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies.
Rodilla C et al.
American Journal of Ophthalmology, 2023
A Description of the Yield of Genetic Reinvestigation in Patients with Inherited Retinal Dystrophies and Previous Inconclusive Genetic Testing.
Areblom M et al.
Genes, 2023
Molecular background of Leber congenital amaurosis in a Polish cohort of patients-novel variants discovered by NGS.
Skorczyk-Werner A et al.
Journal of Applied Genetics, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 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
Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.
Bouzidi A et al.
Orphanet Journal of Rare Diseases, 2022
Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals.
Maltese PE et al.
Frontiers in Genetics, 2022
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
Molecular genetics with clinical characteristics of Leber congenital amaurosis in the Han population of western China.
Zhu L et al.
Ophthalmic Genetics, 2021
Safety and improved efficacy signals following gene therapy in childhood blindness caused by GUCY2D mutations.
Jacobson SG et al.
Iscience, 2021
GUCY2D mutations in retinal guanylyl cyclase 1 provide biochemical reasons for dominant cone-rod dystrophy but not for stationary night blindness.
Peshenko IV et al.
The Journal of Biological Chemistry, 2020
Novel gene variants in Polish patients with Leber congenital amaurosis (LCA).
Skorczyk-Werner A et al.
Orphanet Journal of Rare Diseases, 2020
Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients.
Sallum JMF et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
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
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
Jespersgaard C et al.
Scientific Reports, 2019
Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D.
Stunkel ML et al.
American Journal of Ophthalmology, 2018
Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D.
Sharon D et al.
Progress in Retinal and Eye Research, 2018
The genetic profile of Leber congenital amaurosis in an Australian cohort.
Thompson JA et al.
Molecular Genetics & Genomic Medicine, 2017
Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies.
Di Iorio V et al.
Genes, 2017
Molecular genetics of Leber congenital amaurosis in Chinese: New data from 66 probands and mutation overview of 159 probands.
Xu Y et al.
Experimental Eye Research, 2016
Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark.
Astuti GD et al.
European Journal of Human Genetics : Ejhg, 2016
Outcome measure for the treatment of cone photoreceptor diseases: orientation to a scene with cone-only contrast.
Roman AJ et al.
Bmc Ophthalmology, 2015
Dimerization Domain of Retinal Membrane Guanylyl Cyclase 1 (RetGC1) Is an Essential Part of Guanylyl Cyclase-activating Protein (GCAP) Binding Interface.
Peshenko IV et al.
The Journal of Biological Chemistry, 2015
Impaired association of retinal degeneration-3 with guanylate cyclase-1 and guanylate cyclase-activating protein-1 leads to leber congenital amaurosis-1.
Zulliger R et al.
The Journal of Biological Chemistry, 2015
Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan.
Maria M et al.
Plos One, 2015
Genomic approaches for the discovery of genes mutated in inherited retinal degeneration.
Siemiatkowska AM et al.
Cold Spring Harbor Perspectives in Medicine, 2014
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.
Wang X et al.
Journal of Medical Genetics, 2013
Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants.
Jacobson SG et al.
Human Molecular Genetics, 2013
A novel GUCY2D mutation, V933A, causes central areolar choroidal dystrophy.
Hughes AE et al.
Investigative Ophthalmology & Visual Science, 2012
Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis.
Coppieters F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2012
Next-generation genetic testing for retinitis pigmentosa.
Neveling K et al.
Human Mutation, 2012
Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.
Li L et al.
Plos One, 2011
Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.
Coppieters F et al.
Human Mutation, 2010