Associated Papers
Eyes shut homolog (EYS): Connecting molecule to disease.
Marques JP et al.
Progress in Retinal and Eye Research, 2025
Characterisation and prevalence of inherited retinal diseases in the Finnish population reveals enrichment of population-specific phenotypes and causative variants.
Lähteenoja L et al.
The British Journal of Ophthalmology, 2025
The value of age of onset and family history as predictors of molecular diagnosis in a Swedish cohort of inherited retinal disease.
De Geer K et al.
Acta Ophthalmologica, 2025
39643591 (PubMed )
Supplement: AOS-103-327-s002.xlsx › cohort_data
Functional Characterization of ABCA4 Missense Variants Aids Variant Interpretation and Phenotype Prediction in Patients With ABCA4-Retinal Dystrophies.
Aslaksen S et al.
Investigative Ophthalmology & Visual Science, 2024
EYS mutations and implementation of minigene assay for variant classification in EYS-associated retinitis pigmentosa in northern Sweden.
Westin IM et al.
Scientific Reports, 2021
33833316 (PubMed )
Supplement: 41598_2021_87224_MOESM1_ESM.pdf
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
31942019 (PubMed )
Supplement: 41598_2019_57335_MOESM1_ESM.xlsx › Sup_table_1
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
Jespersgaard C et al.
Scientific Reports, 2019
30718709 (PubMed )
Supplement: 41598_2018_38007_MOESM2_ESM.xlsx › Ark1
A Distinct Phenotype of Eyes Shut Homolog (EYS)-Retinitis Pigmentosa Is Associated With Variants Near the C-Terminus.
Sengillo JD et al.
American Journal of Ophthalmology, 2018
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
Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa.
Birtel J et al.
Plos One, 2018
30543658 (PubMed )
Supplement: pone.0207958.s002.docx
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