Observational studyGenes2021
Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort.
Observational study in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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.
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Who cites it
19 citing papers in PubMed, 25 citations in OpenAlex.
- Autosomal dominant Riggs-type congenital stationary night blindness with fundus sheen and retinal atrophy due to a novel GNAT1 p.Gln200Arg variant.Documenta ophthalmologica. Advances in ophthalmology · 2026Article
- Age-Stratified Genetic Spectrum of Retinitis Pigmentosa in Korean Patients: Predominance ofAnnals of laboratory medicine · 2026Article
- From enrichment to interpretation: PS4-driven reclassification in Taiwanese inherited retinal degeneration.Human genomics · 2026Article
- Biallelic WDR19 Variants: Systematic Analysis of Genotype-Phenotype Correlations.Human mutation · 2026Article
- Determinants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort.European journal of human genetics : EJHG · 2025Article
- Retinitis Pigmentosa-Associated Gene TRIM49 Regulates ULK1-Mediated Autophagy and Photoreceptor Phagocytosis by the Retinal Pigment Epithelium.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Inherited retinal diseases in Kentucky: diagnostic yield, gene variants, and novel mutations in a U.S. population.BMC medical genomics · 2025Observational
- The value of age of onset and family history as predictors of molecular diagnosis in a Swedish cohort of inherited retinal disease.Acta ophthalmologica · 2025Article
- Clinical Exome-Based Redefinition and Reclassification of Retinitis Pigmentosa.Journal of Korean medical science · 2025Article
- Clinical Characteristics and Visual Prognostic Biomarkers in Pericentral Retinitis Pigmentosa: A Study in a South Korean Cohort.Korean journal of ophthalmology : KJO · 2025Article
- Genetic and clinical characterization of suspected retinitis pigmentosa in a cohort of Brazilian patients.Molecular vision · 2025Article
- Identification of diagnostic challenges in RP1 Alu insertion and strategies for overcoming them.Scientific reports · 2024Article
- DetectingGenes · 2024Article
- Improving the Yield of Genetic Diagnosis through Additional Genetic Panel Testing in Hereditary Ophthalmic Diseases.Current issues in molecular biology · 2024Article
- Molecular Re-Diagnosis with Whole-Exome Sequencing Increases the Diagnostic Yield in Patients with Non-Syndromic Retinitis Pigmentosa.Diagnostics (Basel, Switzerland) · 2023Article
- Aberrant Retinal Pigment Epithelial Cells Derived from Induced Pluripotent Stem Cells of a Retinitis Pigmentosa Patient with the PRPF6 Mutation.International journal of molecular sciences · 2022Article
- Development of a novel knockout model of retinitis pigmentosa usingFrontiers in medicine · 2022Article
- The Genetic Landscape of Inherited Retinal Diseases in a Mexican Cohort: Genes, Mutations and Phenotypes.Genes · 2021Article
- Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.PLoS genetics · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We conducted targeted next-generation sequencing (TGS) and/or whole exome sequencing (WES) to assess the genetic profiles of clinically suspected retinitis pigmentosa (RP) in the Korean population. A cohort of 279 unrelated Korean patients with clinically diagnosed RP and available family members underwent molecular analyses using TGS consisting of 88 RP-causing genes and/or WES with clinical variant interpretation. The combined genetic tests (TGS and/or WES) found a mutation in the 44 RP-causing genes and seven inherited retinal disease (IRD)-causing genes, and the total mutation detection rate was 57%. The mutation detection rate was higher in patients who experienced visual deterioration at a younger age (75.4%, age of symptom onset under 10 years) and who had a family history of RP (70.7%). The most common causative genes were
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Registered trials
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.