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
Ambispective study on the phenotypic progression of patients with Stargardt disease associated with ABCA4 gene mutations.
Martel Ramirez VA et al.
Archivos De La Sociedad Espanola De Oftalmologia, 2025
Inherited retinal diseases in Kentucky: diagnostic yield, gene variants, and novel mutations in a U.S. population.
Demas N et al.
Bmc Medical Genomics, 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
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
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ et al.
Biomolecules, 2024
Prognostication in Stargardt Disease Using Fundus Autofluorescence: Improving Patient Care.
Daich Varela M et al.
Ophthalmology, 2023
Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability.
Corradi Z et al.
Hgg Advances, 2023
Efficient correction of ABCA4 variants by CRISPR-Cas9 in hiPSCs derived from Stargardt disease patients.
Siles L et al.
Molecular Therapy. Nucleic Acids, 2023
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.
Schlottmann PG et al.
Npj Genomic Medicine, 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
Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework.
Cornelis SS et al.
Human Mutation, 2023
Phenotyping of ABCA4 Retinopathy by Machine Learning Analysis of Full-Field Electroretinography.
Glinton SL et al.
Translational Vision Science & Technology, 2022
Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy.
Falsini B et al.
Scientific Reports, 2022
Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.
Del Pozo-Valero M et al.
Investigative Ophthalmology & Visual Science, 2022
A genotype-phenotype correlation matrix for ABCA4 disease based on long-term prognostic outcomes.
Lee W et al.
Jci Insight, 2022
Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients.
Mena MD et al.
Frontiers in Genetics, 2021
Updating the Genetic Landscape of Inherited Retinal Dystrophies.
García Bohórquez B et al.
Frontiers in Cell and Developmental Biology, 2021
The Scope of Pathogenic ABCA4 Mutations Targetable by CRISPR DNA Base Editing Systems-A Systematic Review.
Piotter E et al.
Frontiers in Genetics, 2021
Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease.
Runhart EH et al.
Jama Ophthalmology, 2020
Prediction of Function in ABCA4-Related Retinopathy Using Ensemble Machine Learning.
Müller PL et al.
Journal of Clinical Medicine, 2020
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
Jespersgaard C et al.
Scientific Reports, 2019
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.
Birtel J et al.
Scientific Reports, 2018
Test-Retest Variability of Functional and Structural Parameters in Patients with Stargardt Disease Participating in the SAR422459 Gene Therapy Trial.
Parker MA et al.
Translational Vision Science & Technology, 2016
Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.
Zhao L et al.
Human Genetics, 2015
Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree.
Méndez-Vidal C et al.
Bmc Genetics, 2014
Clinical and molecular analysis of Stargardt disease with preserved foveal structure and function.
Fujinami K et al.
American Journal of Ophthalmology, 2013
A longitudinal study of stargardt disease: clinical and electrophysiologic assessment, progression, and genotype correlations.
Fujinami K et al.
American Journal of Ophthalmology, 2013