ArticleGenetics in medicine : official journal of the American College of Medical Genetics2020
The morbid genome of ciliopathies: an update.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 71 papers, 1 of them a synthesis that pooled it.
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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
71 citing papers in PubMed, 1 synthesis or guideline pooled it, 103 citations in OpenAlex.
- Beyond the Kidney: A Systematic Review of Extrarenal Manifestations inInternational journal of molecular sciences · 2026Pooled it
- Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet-Biedl syndrome: phase 3 trial results.Orphanet journal of rare diseases · 2023Trial
- Efficacy and safety of setmelanotide, a melanocortin-4 receptor agonist, in patients with Bardet-Biedl syndrome and Alström syndrome: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial with an open-label period.The lancet. Diabetes & endocrinology · 2022Trial
- A Rare De Novo Missense Mutation in IFT122 Confers a Genetic Susceptibility Factor of Idiopathic Pediatric Uveitis Via Trio-based Whole-Exome Sequencing.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Early-Life DNA methylation at TRIM6 and TTC23 promoters associates with respiratory infections at one year.Pediatric research · 2026Article
- Variants in the ciliopathy gene SCLT1 are associated with non-syndromic and syndromic retinal degeneration of variable severity.NPJ genomic medicine · 2026Article
- Dual molecular diagnosis of CEP290 and GLI3 mutations identified in an infant with leber congenital amaurosis and postaxial polydactyly, a Bardet-Biedl syndrome phenocopy.BMC ophthalmology · 2026Article
- Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies.Clinical genetics · 2026Article
- NIMA-related kinase family at the nexus of skeletal development and congenital arthrogryposis: coordinated regulation of cell cycle and ciliary dynamics.Frontiers in genetics · 2026Review
- Biallelic WDR19 Variants: Systematic Analysis of Genotype-Phenotype Correlations.Human mutation · 2026Article
- A novel protein truncating mutation of TTC8 causes Bardet-Biedl Syndrome (BBS) in a Pakistani family.Genetics and molecular biology · 2026Article
- Genetic Insights in Hindbrain Abnormalities Through Network Analysis Expose Key Biological Pathways in Hindbrain Development.Cerebellum (London, England) · 2025Article
- Unexpected Diagnosis of Fahr's Disease in a Patient with Severe Obesity and a Heterozygotic Variant in theGenes · 2025Article
- Identification of conserved residues essential for the ciliogenic functions of WDPCP.Disease models & mechanisms · 2025Article
- Structure-Activity Analysis Reveals Perturbed Cilia-Jun N-Terminal Kinase Signaling in MAPKBP1-Associated Kidney Disease.Kidney international reports · 2025Article
- Article
- Hyperphagia in Bardet-Biedl syndrome: Pathophysiology, burden, and management.Obesity reviews : an official journal of the International Association for the Study of Obesity · 2025Review
- Article
- DNA Methylation Patterns Associated with Tinnitus in Young Adults-A Pilot Study.Journal of the Association for Research in Otolaryngology : JARO · 2024Article
- Article
11 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
41 authors at 11 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeCiliopathies are highly heterogeneous clinical disorders of the primary cilium. We aim to characterize a large cohort of ciliopathies phenotypically and molecularly.
methodsDetailed phenotypic and genomic analysis of patients with ciliopathies, and functional characterization of novel candidate genes.
resultsIn this study, we describe 125 families with ciliopathies and show that deleterious variants in previously reported genes, including cryptic splicing variants, account for 87% of cases. Additionally, we further support a number of previously reported candidate genes (BBIP1, MAPKBP1, PDE6D, and WDPCP), and propose nine novel candidate genes (CCDC67, CCDC96, CCDC172, CEP295, FAM166B, LRRC34, TMEM17, TTC6, and TTC23), three of which (LRRC34, TTC6, and TTC23) are supported by functional assays that we performed on available patient-derived fibroblasts. From a phenotypic perspective, we expand the phenomenon of allelism that characterizes ciliopathies by describing novel associations including WDR19-related Stargardt disease and SCLT1- and CEP164-related Bardet-Biedl syndrome.
conclusionIn this cohort of phenotypically and molecularly characterized ciliopathies, we draw important lessons that inform the clinical management and the diagnostics of this class of disorders as well as their basic biology.
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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.