ReviewInternational journal of molecular sciences2021
Emerging Genotype-Phenotype Relationships in Primary Ciliary Dyskinesia.
Review in International journal of molecular sciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 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
27 citing papers in PubMed, 50 citations in OpenAlex.
- Making the Diagnosis of Primary Ciliary Dyskinesia in Australia.Pediatric pulmonology · 2026Article
- Advances in Health-Related Quality of Life in Primary Ciliary Dyskinesia.Pediatric pulmonology · 2026Review
- A Case of Primary Ciliary Dyskinesia Caused byCase reports in medicine · 2026Article
- Primary ciliary dyskinesia phenotypes and correlation with genotype.Current opinion in pulmonary medicine · 2025Review
- Long-Read Sequencing as a Diagnostic Tool for Primary Ciliary Dyskinesia.Case reports in genetics · 2025Article
- Development and Initial Characterization of Pigs withbioRxiv : the preprint server for biology · 2024Article
- A novel splicing mutation DNAH5 c.13,338 + 5G > C is involved in the pathogenesis of primary ciliary dyskinesia in a family with primary familial brain calcification.BMC pulmonary medicine · 2024Article
- Primary Ciliary Dyskinesia: A Clinical Review.Cells · 2024Review
- Primary Ciliary Dyskinesia.Pediatrics · 2024Review
- Situs Ambiguus Is Associated With Adverse Clinical Outcomes in Children With Primary Ciliary Dyskinesia.Chest · 2024Article
- The utility of nasal nitric oxide in the diagnostic evaluation of primary ciliary dyskinesia.Pediatric pulmonology · 2024Article
- Nontuberculous Mycobacteria, Mucociliary Clearance, and Bronchiectasis.Microorganisms · 2024Review
- Infertility and pregnancy outcomes among adults with primary ciliary dyskinesia.Human reproduction open · 2024Article
- Pulmonary radioaerosol mucociliary clearance assessment: searching for genotype-specific differences and potential as an outcome measure in primary ciliary dyskinesia.ERJ open research · 2023Article
- Impaired Nitric Oxide Synthetase Activity in Primary Ciliary Dyskinesia-Data-Driven Hypothesis.Journal of clinical medicine · 2023Article
- Review
- Article
- TheInternational journal of molecular sciences · 2023Review
- Preventing Continuous Damage in Primary Ciliary Dyskinesia: Is Airway Inflammation a Potential Target?Annals of the American Thoracic Society · 2023Article
- Diagnostic testing in people with primary ciliary dyskinesia: An international participatory study.PLOS global public health · 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
3 authors at 2 institutions in 1 country.
Funding
Abstract
Primary ciliary dyskinesia (PCD) is a rare inherited condition affecting motile cilia and leading to organ laterality defects, recurrent sino-pulmonary infections, bronchiectasis, and severe lung disease. Research over the past twenty years has revealed variability in clinical presentations, ranging from mild to more severe phenotypes. Genotype and phenotype relationships have emerged. The increasing availability of genetic panels for PCD continue to redefine these genotype-phenotype relationships and reveal milder forms of disease that had previously gone unrecognized.
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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.