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
Antisense oligonucleotides for inherited retinal diseases: a comprehensive review.
Banadaki HD et al.
Molecular Aspects of Medicine, 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
Mouse NR2E3R296Q Mutation Disrupts Photoreceptor Developmental Paradigm and Leads to Early-Onset Progressive Retinal Degeneration by Suppressing RXRG Signaling.
Jin J et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2025
Dual inheritance patterns: A spectrum of non-syndromic inherited retinal disease phenotypes with varying molecular mechanisms.
Holtes LK et al.
Progress in Retinal and Eye Research, 2025
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
Putative retina metal/metalloid-binding proteins: molecular functions, biological processes and retina disease associations.
Ugarte M et al.
Metallomics : Integrated Biometal Science, 2024
Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.
Matczyńska E et al.
Biomedicines, 2024
Comparative analysis of in-silico tools in identifying pathogenic variants in dominant inherited retinal diseases.
Brock DC et al.
Human Molecular Genetics, 2024
Genetic treatment for autosomal dominant inherited retinal dystrophies: approaches, challenges and targeted genotypes.
Daich Varela M et al.
The British Journal of Ophthalmology, 2023
MAGI-ACMG: Algorithm for the Classification of Variants According to ACMG and ACGS Recommendations.
Cristofoli F et al.
Genes, 2023
Clinical and Genetic Features of NR2E3-Associated Retinopathy: A Report of Eight Families with a Longitudinal Study and Literature Review.
Xiao S et al.
Genes, 2023
Nuclear Receptor Subfamily 2 Group E Member 3 (NR2E3): Role in Retinal Development and Disease.
Toms M et al.
Genes, 2023
A DOUBLE HYPERAUTOFLUORESCENT RING IN A 33-YEAR-OLD-FEMALE PATIENT.
da Palma MM et al.
Retinal Cases & Brief Reports, 2023
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.
Schlottmann PG et al.
Npj Genomic Medicine, 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
Disease-causing mutations in genes encoding transcription factors critical for photoreceptor development.
Sun C et al.
Frontiers in Molecular Neuroscience, 2023
Antisense oligonucleotides targeting exon 11 are able to partially rescue the NF2-related schwannomatosis phenotype in vitro.
Catasús N et al.
Molecular Therapy. Nucleic Acids, 2022
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
Compound dominant-null heterozygosity in a family with RP1-related retinal dystrophy.
Buckley TMW et al.
American Journal of Ophthalmology Case Reports, 2022
Genetic dissection of non-syndromic retinitis pigmentosa.
Bhardwaj A et al.
Indian Journal of Ophthalmology, 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
AON-based degradation of c.151C>T mutant COCH transcripts associated with dominantly inherited hearing impairment DFNA9.
de Vrieze E et al.
Molecular Therapy. Nucleic Acids, 2021
Allele-Specific Knockout by CRISPR/Cas to Treat Autosomal Dominant Retinitis Pigmentosa Caused by the G56R Mutation in NR2E3.
Diakatou M et al.
International Journal of Molecular Sciences, 2021
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
Colombo L et al.
Investigative Ophthalmology & Visual Science, 2021
Enhanced S-Cone Syndrome: Spectrum of Clinical, Imaging, Electrophysiologic, and Genetic Findings in a Retrospective Case Series of 56 Patients.
de Carvalho ER et al.
Ophthalmology. Retina, 2021
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Zampaglione E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Metabolic and Redox Signaling of the Nucleoredoxin-Like-1 Gene for the Treatment of Genetic Retinal Diseases.
Clérin E et al.
International Journal of Molecular Sciences, 2020
Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing.
Zenteno JC et al.
Molecular Genetics & Genomic Medicine, 2020
Knockout of Nr2e3 prevents rod photoreceptor differentiation and leads to selective L-/M-cone photoreceptor degeneration in zebrafish.
Xie S et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2019
CLINICAL AND GENETIC CHARACTERISTICS OF MALE PATIENTS WITH RPGR-ASSOCIATED RETINAL DYSTROPHIES: A Long-Term Follow-up Study.
Talib M et al.
Retina (philadelphia, Pa.), 2019
Genome Editing as a Treatment for the Most Prevalent Causative Genes of Autosomal Dominant Retinitis Pigmentosa.
Diakatou M et al.
International Journal of Molecular Sciences, 2019
Antisense Oligonucleotide-Based Downregulation of the G56R Pathogenic Variant Causing NR2E3-Associated Autosomal Dominant Retinitis Pigmentosa.
Naessens S et al.
Genes, 2019
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
Jespersgaard C et al.
Scientific Reports, 2019
Novel clinical findings in autosomal recessive NR2E3-related retinal dystrophy.
Murro V et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2019
Non-syndromic retinitis pigmentosa.
Verbakel SK et al.
Progress in Retinal and Eye Research, 2018
Comparison of 5-year progression of retinitis pigmentosa involving the posterior pole among siblings by means of SD-OCT: a retrospective study.
Colombo L et al.
Bmc Ophthalmology, 2018
Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families.
Martin-Merida I et al.
Investigative Ophthalmology & Visual Science, 2018
Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.
Bryant L et al.
Clinical Ophthalmology (auckland, N.z.), 2018
Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families.
Pérez-Carro R et al.
Plos One, 2018
Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa.
Birtel J et al.
Plos One, 2018