ReviewFrontiers in genetics2022
Spectrum of Mutations in
Review in Frontiers in genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 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
15 citing papers in PubMed, 21 citations in OpenAlex.
- Early Clinical Manifestations and Visual Prognosis of Japanese Patients with Norrie Disease: A Case Series and Literature Review.Journal of clinical medicine · 2026Article
- Case Report: Acute keratoconus as the presenting feature in undiagnosed Norrie disease: hypothesis from a novel NDP mutation.Frontiers in medicine · 2026Article
- 5' UTR variant in the NDP gene leads to incorrect splicing and familial exudative vitreoretinopathy.Orphanet journal of rare diseases · 2025Article
- Norrie Disease: Cochlear Enhancement and Cerebellar Signal Abnormalities.AJNR. American journal of neuroradiology · 2025Article
- State of the Art on Inherited Retinal Dystrophies: Management and Molecular Genetics.Journal of clinical medicine · 2025Review
- Gene Variant Spectrum in Probands With Familial Exudative Vitreoretinopathy Using an Expanded Panel.Investigative ophthalmology & visual science · 2025Article
- Norrin in cancer: from a promising prognostic biomarker to a novel therapeutic target.Frontiers in oncology · 2025Review
- Rescue of cochlear vascular pathology prevents sensory hair cell loss in Norrie disease.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Characterization of a novel heterozygous frameshift variant in NDP gene that causes familial exudative vitreoretinopathy in female patients.Molecular genetics and genomics : MGG · 2024Article
- Investigating the Impact of Dimer Interface Mutations on Norrin's Secretion and Norrin/β-Catenin Pathway Activation.Investigative ophthalmology & visual science · 2024Article
- Systemic gene therapy rescues retinal dysfunction and hearing loss in a model of Norrie disease.EMBO molecular medicine · 2023Article
- Article
- Identifying novel candidate compounds for therapeutic strategies in retinopathy of prematurity via computational drug-gene association analysis.Frontiers in pediatrics · 2023Article
- Selective Activation of the Wnt-Signaling Pathway as a Novel Therapy for the Treatment of Diabetic Retinopathy and Other Retinal Vascular Diseases.Pharmaceutics · 2022Review
- Coats disease: A narrative review of clinical spectrum, imaging features, and contemporary management.Science progressReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 5 institutions in 1 country.
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.