Associated Papers
Retinitis Pigmentosa Associated With EYS Gene Mutations in Puerto Rico: A Case Series.
Ruiz-Justiz AJ et al.
Cureus, 2024
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
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.
Van Schil K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
28749477 (PubMed )
Supplement: gim201797x2.xlsx › Sheet1
EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression.
McGuigan DB et al.
Genes, 2017
Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.
Riera M et al.
Scientific Reports, 2017
Copy-number variations in EYS: a significant event in the appearance of arRP.
Pieras JI et al.
Investigative Ophthalmology & Visual Science, 2011
EYS is a major gene for rod-cone dystrophies in France.
Audo I et al.
Human Mutation, 2010
Retinitis pigmentosa in Puerto Rico.
Tous HM et al.
Puerto Rico Health Sciences Journal, 2006
Select a paper to view details