ArticleJournal of clinical medicine2021
Genotype-Phenotype Correlations in
Article in Journal of clinical medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
14 citing papers in PubMed, 20 citations in OpenAlex.
- Classification of fundus autofluorescence images based on macular function in retinitis pigmentosa using convolutional neural networks.Japanese journal of ophthalmology · 2025Observational
- Current understanding on Retinitis Pigmentosa: a literature review.Frontiers in ophthalmology · 2025Review
- Autosomal Dominant RP1 c.2613dupA (p.Arg872Thrfs*2) Variant Retinitis Pigmentosa Shows Linear Loss of the Ellipsoid Zone over Time with Highly Variable Phenotype.Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde · 2025Article
- Phenotypic variability of RP1-related inherited retinal dystrophy associated with the c.5797 C > T (p.Arg1933*) variant in the Japanese population.Scientific reports · 2024Article
- Identification of diagnostic challenges in RP1 Alu insertion and strategies for overcoming them.Scientific reports · 2024Article
- DetectingGenes · 2024Article
- Ocular genetics in the Japanese population.Japanese journal of ophthalmology · 2024Review
- Late-Onset Slowly Progressing Cone/Macular Dystrophy in Patients With the Biallelic Hypomorphic Variant p.Arg1933Ter in RP1.Translational vision science & technology · 2024Article
- Article
- Compound dominant-null heterozygosity in a family withAmerican journal of ophthalmology case reports · 2022Article
- Genetic dissection of non-syndromic retinitis pigmentosa.Indian journal of ophthalmology · 2022Review
- Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy:Genes · 2022Article
- The second Japanese family with Malattia Leventinese/Doyne honeycomb retinal dystrophy.Documenta ophthalmologica. Advances in ophthalmology · 2022Article
- Genetic, environmental and other risk factors for progression of retinitis pigmentosa.International journal of ophthalmology · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundLittle is known about genotype-phenotype correlations of
methodsIn total, 607 patients with inherited retinal diseases were examined using whole-exome/whole-genome sequencing (WES/WGS). PCR-based screening for an
resultsWe identified 18 pathogenic
conclusionsOur results suggest a genotype-phenotype correlation between variant types/locations and phenotypes (AD-RP, AR-RP, and AR-COD/CORD), and the
Indexed as
Identifiers
What OpenQuestion holds
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.