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
Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.
Esteve-Garcia A et al.
Eye (london, England), 2025
Cystoid Macular Edema in Non-Syndromic Retinitis Pigmentosa: Associations With Causative Genes in a Large Cohort.
Testa F et al.
Investigative Ophthalmology & Visual Science, 2025
Eyes shut homolog (EYS): Connecting molecule to disease.
Marques JP et al.
Progress in Retinal and Eye Research, 2025
New genetic diagnoses for inherited retinal dystrophies by integrating splicing tools into NGS pipelines.
Fernández-Suárez E et al.
Npj Genomic Medicine, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
INHERITED RETINAL DISEASE GENE PANEL IN POSTERIOR OR PANUVEITIS WITH DYSTROPHIC FEATURES.
Abramowicz S et al.
Retina (philadelphia, Pa.), 2025
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.
Marta A et al.
Npj Genomic Medicine, 2025
Retinitis Pigmentosa Associated With EYS Gene Mutations in Puerto Rico: A Case Series.
Ruiz-Justiz AJ et al.
Cureus, 2024
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico.
Villafuerte-de la Cruz RA et al.
Bmc Ophthalmology, 2024
Multimodal imaging in retinitis pigmentosa related to the EYS gene.
Martins EADS et al.
Arquivos Brasileiros De Oftalmologia, 2024
Self-reported visual function and psychosocial impact of visual loss in EYS-associated retinal degeneration in a Portuguese population.
Marques JP et al.
Ophthalmic Genetics, 2023
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.
Schlottmann PG et al.
Npj Genomic Medicine, 2023
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis.
Peter VG et al.
Pnas Nexus, 2023
Retinitis Pigmentosa Associated with EYS Gene Mutations: Disease Severity Staging and Central Retina Atrophy.
Placidi G et al.
Diagnostics (basel, Switzerland), 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 analysis of patients with nonsyndromic and syndromic retinitis pigmentosa in Puerto Rico: a genetic legacy.
Vargas JG et al.
Ophthalmic Genetics, 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
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.
González-Del Pozo M et al.
Npj Genomic Medicine, 2022
Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.
Biswas P et al.
Plos Genetics, 2021
Dissecting the role of EYS in retinal degeneration: clinical and molecular aspects and its implications for future therapy.
Garcia-Delgado AB et al.
Orphanet Journal of Rare Diseases, 2021
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
Colombo L et al.
Investigative Ophthalmology & Visual Science, 2021
Updating the Genetic Landscape of Inherited Retinal Dystrophies.
García Bohórquez B et al.
Frontiers in Cell and Developmental Biology, 2021
A Multi-Strategy Sequencing Workflow in Inherited Retinal Dystrophies: Routine Diagnosis, Addressing Unsolved Cases and Candidate Genes Identification.
Martín-Sánchez M et al.
International Journal of Molecular Sciences, 2020
Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.
Diñeiro M et al.
Acta Ophthalmologica, 2020
Genetic spectrum of retinal dystrophies in Tunisia.
Habibi I et al.
Scientific Reports, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
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
EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression.
McGuigan DB et al.
Genes, 2017
Advanced diagnostic genetic testing in inherited retinal disease: experience from a single tertiary referral centre in the UK National Health Service.
Khan KN et al.
Clinical Genetics, 2017
Identifying mutations in Tunisian families with retinal dystrophy.
Habibi I et al.
Scientific Reports, 2016
Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing.
González-del Pozo M et al.
Plos One, 2011
EYS is a major gene for rod-cone dystrophies in France.
Audo I et al.
Human Mutation, 2010
Retinitis pigmentosa in Puerto Rico.
Tous HM et al.
Puerto Rico Health Sciences Journal, 2006