ReviewChest2018
Advances in the Genetics of Primary Ciliary Dyskinesia: Clinical Implications.
Review in Chest, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 83 papers, 1 of them a synthesis that pooled it.
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
83 citing papers in PubMed, 1 synthesis or guideline pooled it, 141 citations in OpenAlex.
- Clinical and genetic spectrum of primary ciliary dyskinesia in Chinese patients: a systematic review.Orphanet journal of rare diseases · 2022Pooled it
- Nasal nitric oxide combined with clinical features for preliminary screening of primary ciliary dyskinesia in bronchiectasis.The European respiratory journal · 2026Article
- Advances in Health-Related Quality of Life in Primary Ciliary Dyskinesia.Pediatric pulmonology · 2026Review
- Article
- Prevalence and Nationality Distribution of Known and Novel Genetic Variants in Children With Primary Ciliary Dyskinesia in the State of Qatar.Clinical genetics · 2026Article
- Kartagener syndrome rarely revealed by chronic diarrhea in an adult: A case report.Radiology case reports · 2026Article
- Article
- Two Distinct Clinical Presentations of Primary Ciliary Dyskinesia (PCD): Diagnostic Utility of Whole-Exome Sequencing in a Genetically Heterogeneous Disorder.The application of clinical genetics · 2026Article
- BiallelicFrontiers in genetics · 2026Article
- Mucociliary and cough clearance in primary ciliary dyskinesia as affected by mutations inERJ open research · 2026Article
- A Case of Primary Ciliary Dyskinesia Caused byCase reports in medicine · 2026Article
- Novel homozygousWorld journal of experimental medicine · 2025Article
- Characterisation of a primary ciliary dyskinesia model generated from BMI1-transduced basal epithelial cells.Journal of cell science · 2025Article
- Primary Ciliary Dyskinesia-Current Diagnostic and Therapeutic Approach.Journal of clinical medicine · 2025Review
- A Rare Tetrad of Sickle Cell Disease, Vascular Ehlers-Danlos Syndrome, Primary Ciliary Dyskinesia, and Phelan-McDermid Syndrome in a Saudi Child: A Complex Multisystem Pediatric Case Report.Pediatric reports · 2025Article
- A stem cell-based platform for functional analysis of genetic variants in lung disease.bioRxiv : the preprint server for biology · 2025Article
- Primary ciliary dyskinesia.Paediatrics & child health · 2025Article
- Article
- Diagnostic Role of Immunofluorescence Analysis in Primary Ciliary Dyskinesia-Suspected Individuals.Journal of clinical medicine · 2025Article
- An incomplete Kartagener syndrome presenting with recurrent exacerbation of bronchiectasis: a case report.Annals of medicine and surgery (2012) · 2025Article
23 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Primary ciliary dyskinesia is a rare genetic disease of the motile cilia and is one of a rapidly expanding collection of disorders known as ciliopathies. Patients with primary ciliary dyskinesia have diverse clinical manifestations, including chronic upper and lower respiratory tract disease, left-right laterality defects, and infertility. In recent years, our understanding of the genetics of primary ciliary dyskinesia has rapidly advanced. A growing number of disease-associated genes and pathogenic mutations have been identified, which encode axonemal, cytoplasmic, and regulatory proteins involved in the assembly, structure, and function of motile cilia. Our knowledge of cilia genetics and the function of the proteins encoded has led to a greater understanding of the clinical manifestations of motile ciliopathies. These advances have changed our approach toward diagnostic testing for primary ciliary dyskinesia. In this review, we will describe how new insights into genetics have allowed us to define the clinical features of primary ciliary dyskinesia, revolutionize diagnostics, and reveal previously unrecognized genotype-phenotype relationships in primary ciliary dyskinesia.
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.