ArticleJournal of medical genetics2017
Missense mutations in the WD40 domain of
Article in Journal of medical genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
What it found
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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
16 citing papers in PubMed, 24 citations in OpenAlex.
- Variants in the ciliopathy gene SCLT1 are associated with non-syndromic and syndromic retinal degeneration of variable severity.NPJ genomic medicine · 2026Article
- Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy.Investigative ophthalmology & visual science · 2026Article
- Genetic and clinical characterization of suspected retinitis pigmentosa in a cohort of Brazilian patients.Molecular vision · 2025Article
- Non-syndromic Retinal Degeneration Caused by Pathogenic Variants in Joubert Syndrome Genes.Advances in experimental medicine and biology · 2023Article
- The Joubert-Meckel-Nephronophthisis Spectrum of Ciliopathies.Annual review of genomics and human genetics · 2022Review
- Retinitis pigmentosa and molar tooth sign caused by novel AHI1 compound heterozygote pathogenic variants.BMC medical genomics · 2021Article
- Identification of a novel truncating variant in AHI1 gene and a brief review on mutations spectrum.Molecular biology reports · 2021Review
- Article
- Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.BMC medical genomics · 2021Article
- On the Wrong Track: Alterations of Ciliary Transport in Inherited Retinal Dystrophies.Frontiers in cell and developmental biology · 2021Review
- Identification of Four Novel Variants and Determination of Genotype-Phenotype Correlations for ABCA4 Variants Associated With Inherited Retinal Degenerations.Frontiers in cell and developmental biology · 2021Article
- Syndromic Inherited Retinal Diseases: Genetic, Clinical and Diagnostic Aspects.Diagnostics (Basel, Switzerland) · 2020Review
- Ahi1 promotes Arl13b ciliary recruitment, regulates Arl13b stability and is required for normal cell migration.Journal of cell science · 2019Article
- Insights into photoreceptor ciliogenesis revealed by animal models.Progress in retinal and eye research · 2019Review
- Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa.PloS one · 2018Article
- Genetics of autosomal recessive intellectual disability.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2018Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
17 authors at 7 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundRecent findings suggesting that
methodsExome sequencing was performed in three probands with RP. The effects of the identified missense variants in
resultsIn the three patients with RP, three sets of compound heterozygous variants were detected in
conclusionsThis report confirms that mutations in
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.