ArticleJournal of clinical medicine2021
A Study on the Genetics of Primary Ciliary Dyskinesia.
Article in Journal of clinical medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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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.
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Who cites it
13 citing papers in PubMed, 20 citations in OpenAlex.
- Primary Ciliary Dyskinesia-Current Diagnostic and Therapeutic Approach.Journal of clinical medicine · 2025Review
- DNAH10 mutation cause primary ciliary dyskinesia with defects of IDAf complex assembly and lung fibrosis manifestation.Orphanet journal of rare diseases · 2025Article
- The prevalence of laterality defects in patients with congenital heart disease.Journal of human genetics · 2025Article
- Referral Rates and Diagnostic Evaluation for Primary Ciliary Dyskinesia in Patients With Laterality Defects Who Meet Primary Ciliary Dyskinesia Evaluation Criteria.Pediatric pulmonology · 2025Article
- Bilateral Sensorineural Hearing Loss in a Patient with Primary Ciliary Dyskinesia and Concomitant SH3TC2 Gene Mutation.Journal of clinical medicine · 2025Article
- Recessive genetic contribution to congenital heart disease in 5,424 probands.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans.American journal of human genetics · 2025Article
- Genetic Analysis of 17q Terminal Partial Trisomy.Clinical case reports · 2024Article
- Novel pathogenic variants ofFrontiers in genetics · 2024Article
- Clinical and Genetic Characterization of Patients with Primary Ciliary Dyskinesia in Southwest Saudi Arabia: A Cross Sectional Study.Children (Basel, Switzerland) · 2023Article
- The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum.ERJ open research · 2023Article
- DNA Methylation Changes in Blood Cells of Fibromyalgia and Chronic Fatigue Syndrome Patients.Journal of pain research · 2023Article
- ODAD1 variants resulting from splice-site mutations retain partial function and cause primary ciliary dyskinesia with outer dynein arm defects.Frontiers in genetics · 2023Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Primary ciliary dyskinesia (PCD) is a poorly understood disorder. It is primarily autosomal recessive and is prevalent in tribal communities of the United Arab Emirates due to consanguineous marriages. This retrospective study aimed to assess the pathogenicity of the genetic variants of PCD in indigenous patients with significant clinical respiratory problems. Pathogenicity scores of variants obtained from the chart review were consolidated using the Ensembl Variant Effect Predictor. The multidimensional dataset of scores was clustered into three groups based on their pathogenicity. Sequence alignment and the Jensen-Shannon Divergence (JSD) were generated to evaluate the amino acid conservation at the site of the variation. One-hundred and twelve variants of 28 genes linked to PCD were identified in 66 patients. Twenty-two variants were double heterozygous, two triple heterozygous, and seven homozygous. Of the thirteen novel variants, two, c.11839 + 1G > A in dynein, axonemal, heavy chain 11 (
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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.