ArticleGenes2017
EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression.
Open access · goldAbstract read
In one paragraph
Article in Genes, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
0numbers the graph read from it
0cells of the map it votes in
36citing papers in PubMed
2.4field-weighted citation impact, top 11% of its field
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
36 citing papers in PubMed, 55 citations in OpenAlex.
- Inflammatory Markers and Disease Progression in Moderate-Stage Retinitis Pigmentosa: Longitudinal Analysis from the Retinitis Pigmentosa Progression and Inflammatory Marker Registry Study.Ophthalmology science · 2026Article
- Spadmiss with basal ganglia calcification and multilocus genetic disease: a novel phenotypic expansion.Annals of medicine and surgery (2012) · 2026Article
- Generation of a human-induced pluripotent stem cell line from a retinitis pigmentosa patient carrying biallelic mutations in EYS gene.Human cell · 2026Article
- Phenotypic features of EYS-associated retinitis pigmentosa with the c.2528 G > A (p.Gly843Glu) mutation in a Japanese cohort.Scientific reports · 2026Article
- Photoreceptor Disease at Ambiguous Transition Zones in Inherited Retinal Degenerations.Translational vision science & technology · 2025Article
- Diagnostic whole exome sequencing in presumably autosomal recessive inherited retinal dystrophies in an Iranian population.Scientific reports · 2025Article
- Clinical Exome-Based Redefinition and Reclassification of Retinitis Pigmentosa.Journal of Korean medical science · 2025Article
- Deciphering the Genetic Basis of Degenerative and Developmental Eye Disorders in 50 Pakistani Consanguineous Families Using Whole-Exome Sequencing.International journal of molecular sciences · 2025Article
- Long-term natural history of ellipsoid zone width inThe British journal of ophthalmology · 2025Article
- Phenotypic Distinctions Between EYS- and USH2A-Associated Retinitis Pigmentosa in an Asian Population.Translational vision science & technology · 2025Article
- Article
- Pseudodominant inheritance of retinitis pigmentosa in a family with mutations in the Eyes Shut Homolog (EYS) gene.Scientific reports · 2024Article
- Review
- Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.American journal of human genetics · 2024Article
- Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease.medRxiv : the preprint server for health sciences · 2023Article
- The Glycosaminoglycan Side Chains and Modular Core Proteins of Heparan Sulphate Proteoglycans and the Varied Ways They Provide Tissue Protection by Regulating Physiological Processes and Cellular Behaviour.International journal of molecular sciences · 2023Review
- Severe progression of pentosan maculopathy over a decade.American journal of ophthalmology case reports · 2023Article
- Retinitis Pigmentosa Associated with EYS Gene Mutations: Disease Severity Staging and Central Retina Atrophy.Diagnostics (Basel, Switzerland) · 2023Article
- HS, an Ancient Molecular Recognition and Information Storage Glycosaminoglycan, Equips HS-Proteoglycans with Diverse Matrix and Cell-Interactive Properties Operative in Tissue Development and Tissue Function in Health and Disease.International journal of molecular sciences · 2023Review
- Testing for pharmacogenomic predictors of ppRNFL thinning in individuals exposed to vigabatrin.Frontiers in neuroscience · 2023Article
Corrections and comments
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Authors and funding
12 authors at 4 institutions in 2 countries.
David B McGuiganScheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. david.mcguigan@uphs.upenn.edu.
Elise HeonDepartment of Ophthalmology and Vision Sciences, Program of Genetics and Genomic Biology, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada. elise.heon@sickkids.ca.
Artur V CideciyanScheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. cideciya@mail.med.upenn.edu.
Rinki RatnapriyaNeurobiology Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA. rinki.ratnapriya@nih.gov.
Monica LuScheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. monica.lu@uphs.upenn.edu.
Alexander SumarokaScheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. asumarok@mail.med.upenn.edu.
Alejandro J RomanScheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. aroman@mail.med.upenn.edu.
Vaishnavi BatmanabaneDepartment of Ophthalmology and Vision Sciences, Program of Genetics and Genomic Biology, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada. vaishnavi.batmanabane@sickkids.ca.
Alexandra V GarafaloScheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. alexandra.garafalo@uphs.upenn.edu.
Edwin M StoneDepartment of Ophthalmology and Visual Science, Stephen A. Wynn Institute for Vision Research, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA. stonee@zeus.eng.uiowa.edu.
Anand SwaroopNeurobiology Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA. swaroopa@nei.nih.gov.
Samuel G JacobsonScheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. jacobsos@mail.med.upenn.edu.
Penn Presbyterian Medical Center · USNational Institutes of Health · USUniversity of Toronto · CAUniversity of Iowa · US
Funding
Mechanisms, modeling and therapies of retinal and macular neurodegenerationZIAEY000546 · NEI · NATIONAL EYE INSTITUTE · PI SWAROOP, ANAND · 2015 to 2025
$36.3MRegulation of gene expression in the retinaZ01EY000450 · NEI · NATIONAL EYE INSTITUTE · PI SWAROOP, ANAND · 2008 to 2008
$2.4MIntramural NIH HHS Z01 EY000450
Abstract
Mutations in the
Indexed as
autofluorescenceciliopathyconeoptical coherence tomographyrod
Identifiers
What OpenQuestion holds
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Read underepoch 390
Registered trials
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.