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
Genotype-Phenotype Correlations in ABCA4-Associated Retinopathy: Insights From a Spanish Cohort of 245 Patients.
Cobos E et al.
Investigative Ophthalmology & Visual Science, 2026
Genetic Correlates of Phenotypic Variability in c.5882G>A p.(Gly1961Glu)-Associated Stargardt Disease.
Pas JAAH et al.
Investigative Ophthalmology & Visual Science, 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
Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort.
Lin S et al.
Ophthalmology. Retina, 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
A framework for individualized splice-switching oligonucleotide therapy.
Kim J et al.
Nature, 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
Photoreceptor degeneration in ABCA4-associated retinopathy and its genetic correlates.
Pfau M et al.
Jci Insight, 2022
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.
Maggi J et al.
International Journal of Molecular Sciences, 2021
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
Perea-Romero I et al.
Scientific Reports, 2021
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
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
Prospective Cohort Study of Childhood-Onset Stargardt Disease: Fundus Autofluorescence Imaging, Progression, Comparison with Adult-Onset Disease, and Disease Symmetry.
Georgiou M et al.
American Journal of Ophthalmology, 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
Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8.
Fujinami K et al.
The British Journal of Ophthalmology, 2019
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
Quantifying the Rate of Ellipsoid Zone Loss in Stargardt Disease.
Cai CX et al.
American Journal of Ophthalmology, 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