ReviewAmerican journal of human genetics2025
RetiGene, a comprehensive gene atlas for inherited retinal diseases.
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Review in American journal of human genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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27citing papers in PubMed
–field-weighted citation impact
What it found
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Who cites it
27 citing papers in PubMed.
- Biallelic RDH11 variants cause syndromic retinitis pigmentosa with early-onset cataracts and neurodevelopmental delay: a multicenter case series.European journal of human genetics : EJHG · 2026Article
- Revisiting retinal and macular degeneration in the genomics era.Nature reviews. Genetics · 2026Review
- Biallelic Pathogenic Variants in PYGM Impair Retinal Glycogenolysis Causing a Range of Phenotypes.Investigative ophthalmology & visual science · 2026Article
- Enhanced chromatin compaction is associated with de novo expression of a nuclear microprotein, global loss of H3 acetylation and local transcriptional changes in retinal rod photoreceptors.Research square · 2026Article
- CLUAP1 variants cause non-syndromic retinitis pigmentosa.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2026Article
- Review
- Identification of a Duplication in the RP17 Locus in an Individual With Pathogenic CEP290 Variants: Implications for RP17 Variant Classification.Investigative ophthalmology & visual science · 2026Article
- Disease progression in IMPDH1 gene-associated rod-cone dystrophy caused by a rare p.Thr244Pro heterozygous variant.Documenta ophthalmologica. Advances in ophthalmology · 2026Article
- Past studies suggest potential therapies for newly discovered retinitis pigmentosa mutations in U6 and U4 snRNAs.RNA (New York, N.Y.) · 2026Article
- Retina-specific long non-coding RNAs associated with inherited retinal disease genes.Cellular and molecular life sciences : CMLS · 2026Article
- Missense variants in KATNA1 alter microtubule dynamics and underlie dominant macular dystrophy.Research square · 2026Article
- Systematic functional evaluation of CNGA1 missense variants associated with retinitis pigmentosa.Molecular medicine (Cambridge, Mass.) · 2026Article
- A global survey of systems biology-based predictions of gene-rare disease associations to enhance new diagnoses.Scientific reports · 2026Article
- Halofantrine protects photoreceptors in multiple models of retinal degeneration.Research square · 2026Article
- Intravitreal photoswitch therapy in advanced retinitis pigmentosa: a phase 1 open-label trial.Nature medicine · 2026Article
- The Role of miRNAs in Retinal Physiology and in Inherited Retinal Disorders.Physiology (Bethesda, Md.) · 2026Review
- The Genetic Landscape of Inherited Retinal Diseases in the Israeli Population.Investigative ophthalmology & visual science · 2026Article
- A novel phenotype-guided genome analysis pipeline for variant discovery.NPJ genomic medicine · 2026Article
- Loss-of-function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, cause a late-onset retinal dystrophy.American journal of human genetics · 2026Article
- [Clinical and genetic aspects of inherited retinal dystrophies : Phenotypic and molecular characterization of 1000 IRD patients in a German tertiary referral center].Die Ophthalmologie · 2026Article
Corrections and comments
- Update of
Authors and funding
31 authors.
Carlo RivoltaOphthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel 4031, Switzerland; Department of Ophthalmology, University of Basel, Basel 4031, Switzerland; Department of Genetics, Genomics and Cancer Sciences, University of Leicester, Leicester LE1 7RH, UK. Electronic address: carlo.rivolta@iob.ch.
Elifnaz CelikOphthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel 4031, Switzerland; Department of Ophthalmology, University of Basel, Basel 4031, Switzerland.
Dhryata KamdarOphthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel 4031, Switzerland; Department of Ophthalmology, University of Basel, Basel 4031, Switzerland.
Francesca CancellieriOphthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel 4031, Switzerland; Department of Ophthalmology, University of Basel, Basel 4031, Switzerland.
Karolina KaminskaOphthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel 4031, Switzerland; Department of Ophthalmology, University of Basel, Basel 4031, Switzerland.
Mukhtar UllahOphthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel 4031, Switzerland; Department of Ophthalmology, University of Basel, Basel 4031, Switzerland.
Pilar Barberán-MartínezMolecular, Cellular, and Genomic Biomedicine Group, IIS-La Fe, Valencia 46026, Spain; Joint Unit CIPF-IIS La Fe Molecular, Cellular and Genomic Biomedicine, IIS-La Fe, Valencia 46026, Spain.
Manon BouckaertCenter for Medical Genetics Ghent, Ghent University, Ghent 9000, Belgium; Department of Biomolecular Medicine, Ghent University, Ghent 9000, Belgium.
Marta CortónDepartment of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid 28040, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid 28029, Spain.
Emma DelanoteCenter for Medical Genetics Ghent, Ghent University, Ghent 9000, Belgium; Department of Biomolecular Medicine, Ghent University, Ghent 9000, Belgium.
Lidia Fernández-CaballeroDepartment of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid 28040, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid 28029, Spain.
Gema García GarcíaMolecular, Cellular, and Genomic Biomedicine Group, IIS-La Fe, Valencia 46026, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid 28029, Spain.
Lara K HoltesDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands.
Marianthi KaraliDepartment of Precision Medicine, Medical Genetics, Università degli Studi della Campania "Luigi Vanvitelli", Naples 80138, Italy; Multidisciplinary Department of Medical, Surgical and Dental Sciences, Eye Clinic, Università degli Studi della Campania "Luigi Vanvitelli", Naples 80138, Italy.
Irma LopezDepartment of Paediatric Surgery, Human Genetics, and Ophthalmology, McGill Ocular Genetics Laboratory and Centre, McGill University, Montreal, QC H4A 3S5, Canada.
Virginie G PeterOphthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel 4031, Switzerland; Department of Ophthalmology, Bern University Hospital, Bern 3010, Switzerland.
Nina SchneiderDepartment of Ophthalmology, Hadassah Medical Center, The Hebrew University of Jerusalem, Jerusalem 91120, Israel.
Lieselot VinckeCenter for Medical Genetics Ghent, Ghent University, Ghent 9000, Belgium; Department of Biomolecular Medicine, Ghent University, Ghent 9000, Belgium.
Carmen AyusoDepartment of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid 28040, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid 28029, Spain.
Sandro BanfiDepartment of Precision Medicine, Medical Genetics, Università degli Studi della Campania "Luigi Vanvitelli", Naples 80138, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli 80078, Italy.
Beatrice BocquetInstitute for Neurosciences of Montpellier, Université de Montpellier, Montpellier 34091, France.
Frauke CoppietersCenter for Medical Genetics Ghent, Ghent University, Ghent 9000, Belgium; Department of Biomolecular Medicine, Ghent University, Ghent 9000, Belgium; Department of Pharmaceutics, Ghent University, Ghent 9000, Belgium.
Frans P M CremersDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands.
Chris F InglehearnLeeds Institute of Medical Research, Division of Molecular Medicine, University of Leeds, Leeds LS2 9JT, UK.
Takeshi IwataDivision of Molecular and Cellular Biology, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo 152-8902, Japan.
Vasiliki KalatzisInstitute for Neurosciences of Montpellier, Université de Montpellier, Montpellier 34091, France.
Robert K KoenekoopDepartment of Paediatric Surgery, Human Genetics, and Ophthalmology, McGill Ocular Genetics Laboratory and Centre, McGill University, Montreal, QC H4A 3S5, Canada.
José M MillánMolecular, Cellular, and Genomic Biomedicine Group, IIS-La Fe, Valencia 46026, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid 28029, Spain.
Dror SharonDepartment of Ophthalmology, Hadassah Medical Center, The Hebrew University of Jerusalem, Jerusalem 91120, Israel.
Carmel ToomesLeeds Institute of Medical Research, Division of Molecular Medicine, University of Leeds, Leeds LS2 9JT, UK.
Mathieu QuinodozOphthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel 4031, Switzerland; Department of Ophthalmology, University of Basel, Basel 4031, Switzerland; Department of Genetics, Genomics and Cancer Sciences, University of Leicester, Leicester LE1 7RH, UK. Electronic address: mathieu.quinodoz@iob.ch.
Funding
NAC Attack, a phase-3, multicenter, randomized, placebo-controlled trial in patients with retinitis pigmentosaUG1EY033293 · NEI · JOHNS HOPKINS UNIVERSITY · PI Xiangrong Kong · 2022 to 2026
$18.1MAntisense therapy for the treatment of visual loss in Usher syndromeR01EY030499 · NEI · LSU HEALTH SCIENCES CENTER · PI KOENEKOOP, ROBERT, LENTZ, JENNIFER JEAN · 2019 to 2023
$1.7MNAC Attack, A Phase-3, Multicenter, Randomized, Placebo-Controlled Trial in Patents with Retinitis PigmentosaUG1EY033286 · NEI · JOHNS HOPKINS UNIVERSITY · PI Peter A Campochiaro · 2022 to 2026
$1.7MNAC Attack AOSLO Reading CenterUG1EY033292 · NEI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Joseph Carroll, JACQUE LYNNE DUNCAN · 2022 to 2026
$915kNEI NIH HHS R01 EY030499NEI NIH HHS UG1 EY033286NEI NIH HHS UG1 EY033292NEI NIH HHS UG1 EY033293
Abstract
Inherited retinal diseases (IRDs) are rare disorders, typically presenting as Mendelian traits, that result in stationary or progressive visual impairment. They are characterized by extensive genetic heterogeneity, possibly the highest among all human genetic diseases, as well as diverse inheritance patterns. Despite advances in gene discovery, limited understanding of gene function and challenges in accurately interpreting variants continue to hinder both molecular diagnosis and genetic research in IRDs. One key problem is the absence of a comprehensive and widely accepted catalog of disease-associated genes, which would ensure consistent genetic testing and reliable molecular diagnoses. With the rapid pace of IRD gene discovery, gene catalogs require frequent validation and updates to remain clinically and scientifically useful. To address these gaps, we developed RetiGene, an expert-curated gene atlas that integrates variant data, bulk and single-cell RNA sequencing, and functional annotations. Through the integration of diverse data sources, RetiGene supports candidate gene prioritization, functional studies, and therapeutic development in IRDs.
Indexed as
Databases, GeneticRetinal DiseasesGenetic Predisposition to DiseaseHumansdatabaseinherited retinal diseasesIRD
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