Associated Papers
Clinical Exome Sequencing: A Genetic Diagnostic Approach for Inherited Retinal Dystrophies.
Barberán-Martínez P et al.
The Journal of Molecular Diagnostics : Jmd, 2026
Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy.
Martins PM et al.
Investigative Ophthalmology & Visual Science, 2026
Genetic Spectrum of Negative Electroretinograms in a Predominantly Pediatric Cohort of 177 Patients.
Zaslavsky K et al.
Investigative Ophthalmology & Visual Science, 2025
Determinants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort.
Lieviant JA et al.
European Journal of Human Genetics : Ejhg, 2025
Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.
Esteve-Garcia A et al.
Eye (london, England), 2025
Genetic landscape of inherited retinal dystrophies in a Welsh tertiary referral centre.
Sanders F et al.
The British Journal of Ophthalmology, 2025
Clinical Spectrum and Molecular Characteristics of Inherited Ocular Diseases in a Cohort of Pediatric Patients With Infantile Nystagmus Syndrome.
Gong X et al.
Investigative Ophthalmology & Visual Science, 2025
Monogenic Retinal Diseases Associated With Genes Encoding Phototransduction Proteins: A Review.
Wong WM et al.
Clinical & Experimental Ophthalmology, 2025
De novo variant in GUCY2D gene causing atypical cone-rod dystrophy in a consanguineous family and literature review.
Fang XH et al.
International Journal of Ophthalmology, 2025
A GUCY2D variant associated cone-rod dystrophy with electronegative ERG: A case report and review.
Wu PL et al.
American Journal of Ophthalmology Case Reports, 2024
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
Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.
Matczyńska E et al.
Biomedicines, 2024
Genetic Characterization of 191 Probands with Inherited Retinal Dystrophy by Targeted NGS Analysis.
Mihalich A 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
Highly efficient capture approach for the identification of diverse inherited retinal disorders.
Kao HJ et al.
Npj Genomic Medicine, 2024
A natural history study of autosomal dominant GUCY2D-associated cone-rod dystrophy.
Scopelliti AJ et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2023
Diagnostic Challenges in ABCA4-Associated Retinal Degeneration: One Gene, Many Phenotypes.
Tan TE et al.
Diagnostics (basel, Switzerland), 2023
Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies.
Rodilla C et al.
American Journal of Ophthalmology, 2023
Development of an AAV-CRISPR-Cas9-based treatment for dominant cone-rod dystrophy 6.
Mellen RW et al.
Molecular Therapy. Methods & Clinical Development, 2023
Phenotypic characterization of autosomal dominant progressive cone dystrophies associated with a heterozygous variant c.2512C>T of GUCY2D gene in a large kindred.
Gao Y et al.
Eye (london, England), 2023
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders.
Lenassi E et al.
Journal of Medical Genetics, 2023
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.
Schlottmann PG et al.
Npj Genomic Medicine, 2023
Neuroblastoma arises in early fetal development and its evolutionary duration predicts outcome.
Körber V et al.
Nature Genetics, 2023
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM et al.
Frontiers in Cell and Developmental Biology, 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
The Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D Gene.
Hahn LC et al.
Ophthalmology. Retina, 2022
Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy.
Falsini B et al.
Scientific Reports, 2022
GUCY2D-Related Retinal Dystrophy with Autosomal Dominant Inheritance-A Multicenter Case Series and Review of Reported Data.
Neubauer J et al.
Genes, 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
Panel-based genetic testing for inherited retinal disease screening 176 genes.
Sheck LHN et al.
Molecular Genetics & Genomic Medicine, 2021
Stargardt misdiagnosis: How ocular genetics helps.
Ibanez MB et al.
American Journal of Medical Genetics. Part A, 2021
Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan.
Chen TC et al.
Npj Genomic Medicine, 2021
Variants at codon 838 in the GUCY2D gene result in different phenotypes of cone rod dystrophy.
Sun Z et al.
Ophthalmic Genetics, 2020
Short-Wavelength and Near-Infrared Autofluorescence in Patients with Deficiencies of the Visual Cycle and Phototransduction.
Oh JK et al.
Scientific Reports, 2020
Clinical and Genetic Characteristics of 15 Affected Patients From 12 Japanese Families with GUCY2D-Associated Retinal Disorder.
Liu X et al.
Translational Vision Science & Technology, 2020
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.
Cipriani V et al.
Genes, 2020