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
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.
Marta A et al.
Npj Genomic Medicine, 2025
Diverse functions and pathogenetic role of Crumbs in retinopathy.
Zhou X et al.
Cell Communication and Signaling : Ccs, 2024
Clinical and Therapeutic Evaluation of the Ten Most Prevalent CRB1 Mutations.
Lopes da Costa B et al.
Biomedicines, 2023
Analysis of CRB1 Pathogenic Variants Correctable with CRISPR Base and Prime Editing.
da Costa BL et al.
Advances in Experimental Medicine and Biology, 2023
A novel nonsense variant (c.1499C>G) in CRB1 caused Leber congenital amaurosis-8 in a Chinese family and a literature review.
Duan W et al.
Bmc Medical Genomics, 2022
Genetic analysis of patients with nonsyndromic and syndromic retinitis pigmentosa in Puerto Rico: a genetic legacy.
Vargas JG et al.
Ophthalmic Genetics, 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
Retinitis Pigmentosa in the Puerto Rican Population: A Geographic Distribution.
Santos DF et al.
Clinical Ophthalmology (auckland, N.z.), 2022
CRB1-Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor CRB1 Isoforms.
Mairot K et al.
International Journal of Molecular Sciences, 2021
Generation of the human iPSC line ESi082-A from a patient with macular dystrophy associated to mutations in the CRB1 gene.
Cañibano-Hernández A et al.
Stem Cell Research, 2021
Updating the Genetic Landscape of Inherited Retinal Dystrophies.
García Bohórquez B et al.
Frontiers in Cell and Developmental Biology, 2021
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
Jespersgaard C et al.
Scientific Reports, 2019
A clinical and molecular characterisation of CRB1-associated maculopathy.
Khan KN et al.
European Journal of Human Genetics : Ejhg, 2018
Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.
Riera M et al.
Scientific Reports, 2017
Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes.
Castro-Sánchez S et al.
Plos One, 2017
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
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.
Consugar MB et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population.
Corton M et al.
Orphanet Journal of Rare Diseases, 2013
CRB1 mutations in inherited retinal dystrophies.
Bujakowska K et al.
Human Mutation, 2012
Hypomorphic variants in inherited retinal and ocular diseases: A review of the literature with clinical cases.
Thuma TBT et al.
Survey of Ophthalmology, 0