Associated Papers
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
40926010 (PubMed )
Supplement: 41433_2025_3981_MOESM2_ESM.xlsx › Resolved_cohort
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.
Marta A et al.
Npj Genomic Medicine, 2025
39939324 (PubMed )
Supplement: 41525_2025_475_MOESM1_ESM.xlsx › Families
Generation of three human induced pluripotent stem cell lines from retinitis pigmentosa 25 patient and two carriers but asymptomatic daughters.
Isla-Magrané H et al.
Stem Cell Research, 2025
Multimodal imaging in retinitis pigmentosa related to the EYS gene.
Martins EADS et al.
Arquivos Brasileiros De Oftalmologia, 2024
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
36819107 (PubMed )
Supplement: Table4.xlsx › Results
"Genetic and clinical findings in an ethnically diverse retinitis pigmentosa cohort associated with pathogenic variants in EYS".
Cundy O et al.
Eye (london, England), 2021
EYS mutation update: In silico assessment of 271 reported and 26 novel variants in patients with retinitis pigmentosa.
Messchaert M et al.
Human Mutation, 2018
Copy-number variations in EYS: a significant event in the appearance of arRP.
Pieras JI et al.
Investigative Ophthalmology & Visual Science, 2011
Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.
Barragán I et al.
Human Mutation, 2010
Select a paper to view details