ArticleERJ open research2023
The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum.
Article in ERJ open research, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
What it found
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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
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 17 citations in OpenAlex.
- Nutrition and growth of primary ciliary dyskinesia patients: a systematic review.European respiratory review : an official journal of the European Respiratory Society · 2026Pooled it
- Active cycle of breathing technique versus oscillating positive expiratory pressure therapy: Effect on lung function in children with primary ciliary dyskinesia; A feasibility study.Chronic respiratory diseaseTrial
- Mapping challenges in the delivery of care for primary ciliary dyskinesia: an international survey on barriers and priorities.ERJ open research · 2026Article
- Prevalence and Nationality Distribution of Known and Novel Genetic Variants in Children With Primary Ciliary Dyskinesia in the State of Qatar.Clinical genetics · 2026Article
- Clinical, Genetic, Morphological and Functional Correlations in a Large Series of Patients with Primary Ciliary Dyskinesia: A Heterogeneous Disease with a Controversial Diagnosis.Molecular diagnosis & therapy · 2025Article
- Genetic investigation of sinopulmonary diseases in Vietnam: seeking specific causes from non-specific symptoms.Orphanet journal of rare diseases · 2025Article
- Empowering limited-resource countries: collaborating with expert centers for diagnosis of primary ciliary dyskinesia.Frontiers in molecular biosciences · 2025Article
- HYDIN variants cause primary ciliary dyskinesia in the Finnish population.Pediatric pulmonology · 2024Article
- Associations between respiratory pathogens and lung function in primary ciliary dyskinesia: cross-sectional analysis from the PROVALF-PCD cohort.ERJ open research · 2024Article
- Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations.The European respiratory journal · 2024Article
- Not all are the same: the power of registries in defining genotype-phenotype relationships in primary ciliary dyskinesia.The European respiratory journal · 2024Article
- Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused by IFT74 mutations.Human molecular genetics · 2023Article
- One person can make a difference: identification of people with a rare genetic lung disease.ERJ open research · 2023Article
- Ultrastructure for the diagnosis of primary ciliary dyskinesia in South Africa, a resource-limited setting.Frontiers in pediatrics · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
25 authors at 9 institutions in 5 countries.
Funding
Abstract
Background: Diagnostic testing for primary ciliary dyskinesia (PCD) started in 2013 in Palestine. We aimed to describe the diagnostic, genetic and clinical spectrum of the Palestinian PCD population. Methods: Individuals with symptoms suggestive of PCD were opportunistically considered for diagnostic testing: nasal nitric oxide (nNO) measurement, transmission electron microscopy (TEM) and/or PCD genetic panel or whole-exome testing. Clinical characteristics of those with a positive diagnosis were collected close to testing including forced expiratory volume in 1 s (FEV Results: 68 individuals had a definite positive PCD diagnosis, 31 confirmed by genetic and TEM results, 23 by TEM results alone, and 14 by genetic variants alone. 45 individuals from 40 families had 17 clinically actionable variants and four had variants of unknown significance in 14 PCD genes Conclusions: Despite limited local resources in Palestine, detailed geno- and phenotyping forms the basis of one of the largest national PCD populations globally. There was notable familial homozygosity within the context of significant population heterogeneity.
Identifiers
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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.