ReviewJournal of pediatric genetics2017
Ciliopathies: Genetics in Pediatric Medicine.
Review in Journal of pediatric genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 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
33 citing papers in PubMed.
- Case Report: Surgical management of thoracic chondrodysplasia in children: complete mobile thoracic replacement.Frontiers in surgery · 2026Article
- Mutations in the β-tubulin TUBB impair ciliogenesis and are associated with ciliopathy-like phenotypes.Nature communications · 2025Article
- Advances in ciliary proteomics - towards cracking the hidden proteome code of cilia.Journal of cell science · 2025Review
- RAB23 loss-of-function mutation causes context-dependent ciliopathy in Carpenter syndrome.PLoS genetics · 2025Article
- Diseases of the primary cilia: a clinical characteristics review.Pediatric nephrology (Berlin, Germany) · 2025Review
- Genome-Based Advances in Modeling Renal Ciliopathies and Enhancing Patient Care.Kidney & blood pressure research · 2025Review
- Analysis of imaging features and clinical manifestations in children with congenital rib deformities: a retrospective study.BMC pediatrics · 2024Article
- Genetic and radiological aspects of pediatric renal cystic disease: A case seriesBiomedica : revista del Instituto Nacional de Salud · 2024Article
- Syndromic ciliopathy: a taiwanese single-center study.BMC medical genomics · 2024Article
- Autonomous and non-cell autonomous role of cilia in structural birth defects in mice.PLoS biology · 2023Article
- Kinase Inhibitors in Genetic Diseases.International journal of molecular sciences · 2023Review
- TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Identification of renal cyst cells of type I Nephronophthisis by single-nucleus RNA sequencing.Frontiers in cell and developmental biology · 2023Article
- Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach.Journal of medical genetics · 2022Article
- Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project.Journal of medical genetics · 2022Article
- ULK4 in Neurodevelopmental and Neuropsychiatric Disorders.Frontiers in cell and developmental biology · 2022Review
- Microtubule modification defects underlie cilium degeneration in cell models of retinitis pigmentosa associated with pre-mRNA splicing factor mutations.Frontiers in genetics · 2022Article
- Case Report: Sequential Liver After Kidney Transplantation in a Patient With Sensenbrenner Syndrome (Cranioectodermal Dysplasia).Frontiers in pediatrics · 2022Article
- An updated SYSCILIA gold standard (SCGSv2) of known ciliary genes, revealing the vast progress that has been made in the cilia research field.Molecular biology of the cell · 2021Review
- Ciliary Dyneins and Dynein Related Ciliopathies.Cells · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 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.