ArticleOphthalmic genetics2022
Cone pathway dysfunction in Jalili syndrome due to a novel familial variant of
Article in Ophthalmic genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
7 citing papers in PubMed, 5 citations in OpenAlex.
- Article
- Full-Field Stimulus Threshold: A Key Functional Outcome Measure in Retinal Diseases and Clinical Trials.Journal of clinical medicine · 2026Review
- A rapid pupillometry protocol for clinical use: effect of age and test-retest repeatability.Documenta ophthalmologica. Advances in ophthalmology · 2025Article
- A rapid pupillometry protocol for clinical use: Effect of age and test-retest repeatability.Research square · 2025Article
- Novel mutation inInternational journal of ophthalmology · 2025Article
- Functional and pathogenic insights into CNNM4 variants in Jalili syndrome.Scientific reports · 2024Article
- Full-field stimulus threshold testing: a scoping review of current practice.Eye (London, England) · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
purposeTo evaluate retinal function in a family presenting with Jalili syndrome due to a previously unreported variant in
methodsA family of three sisters with a novel
resultsClinical findings of cone dysfunction and amelogenesis imperfecta were observed, consistent with Jalili syndrome. Light-adapted ERGs were non-detectable in
conclusion
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.