Associated Papers
Eyes shut homolog (EYS): Connecting molecule to disease.
Marques JP et al.
Progress in Retinal and Eye Research, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39399040 (PubMed )
Supplement: media-1.xlsx › TableS2
Simultaneous Detection of Common Founder Mutations Using a Cost-Effective Deep Sequencing Panel.
Shalom S et al.
Genes, 2024
38790275 (PubMed )
Supplement: genes-15-00646-s001.zip › genes-2989680-supplementary › Supp_Table_S1_-_primers_list.xlsx › ______1
Multimodal imaging in retinitis pigmentosa related to the EYS gene.
Martins EADS et al.
Arquivos Brasileiros De Oftalmologia, 2024
Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels.
Einhorn Y et al.
Human Genomics, 2023
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
32037395 (PubMed )
Supplement: NIHMS1572593-supplement-Supplementary_Tables.xlsx › Table_S2-solutions
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 Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression.
McGuigan DB et al.
Genes, 2017
Assessing Photoreceptor Structure in Retinitis Pigmentosa and Usher Syndrome.
Sun LW et al.
Investigative Ophthalmology & Visual Science, 2016
27145477 (PubMed )
Supplement: i1552-5783-57-6-2428-s01.pdf
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