ArticleEuropean journal of human genetics : EJHG2014
Clinical utility gene card for: choroideremia.
Article in European journal of human genetics : EJHG, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 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
17 citing papers in PubMed.
- Full-Field Stimulus Threshold: A Key Functional Outcome Measure in Retinal Diseases and Clinical Trials.Journal of clinical medicine · 2026Review
- Choroideremia: The Endpoint Endgame.International journal of molecular sciences · 2023Review
- Molecular Therapy for Choroideremia: Pre-clinical and Clinical Progress to Date.Molecular diagnosis & therapy · 2021Article
- Ataluren-Promising Therapeutic Premature Termination Codon Readthrough Frontrunner.Pharmaceuticals (Basel, Switzerland) · 2021Review
- REP1 deficiency causes systemic dysfunction of lipid metabolism and oxidative stress in choroideremia.JCI insight · 2021Article
- Update on Gene Therapy Clinical Trials for Choroideremia and Potential Experimental Therapies.Medicina (Kaunas, Lithuania) · 2021Review
- Longitudinal Study to Assess the Quantitative Use of Fundus Autofluorescence for Monitoring Disease Progression in Choroideremia.Journal of clinical medicine · 2021Article
- Gene Therapy in Inherited Retinal Diseases: An Update on Current State of the Art.Frontiers in medicine · 2021Review
- Membrane trafficking in health and disease.Disease models & mechanisms · 2020Review
- Spectrum of Disease Severity and Phenotype in Choroideremia Carriers.American journal of ophthalmology · 2019Article
- Molecular Therapies for Choroideremia.Genes · 2019Review
- Nonsense-mediated mRNA decay efficiency varies in choroideremia providing a target to boost small molecule therapeutics.Human molecular genetics · 2019Article
- Progress in the development of novel therapies for choroideremia.Expert review of ophthalmology · 2019Article
- The effect of PTC124 on choroideremia fibroblasts and iPSC-derived RPE raises considerations for therapy.Scientific reports · 2018Article
- Identifying characteristic features of the retinal and choroidal vasculature in choroideremia using optical coherence tomography angiography.Eye (London, England) · 2018Observational
- Multimodal assessment of choroideremia patients defines pre-treatment characteristics.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2015Article
- Choroideremia: from genetic and clinical phenotyping to gene therapy and future treatments.Therapeutic advances in ophthalmologyReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
PubMed holds no abstract for this paper.
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.