ReviewJournal of cystic fibrosis : official journal of the European Cystic Fibrosis Society2020
The genetics and genomics of cystic fibrosis.
Review in Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 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
17 citing papers in PubMed.
- Beyond two alleles: multiallelic genotypic selection and its estimation from time-series data.BMC genomics · 2026Article
- Impact of Genetics on Endocrine Manifestations of Cystic Fibrosis.Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists · 2026Review
- Development of a selective-iodide indicator for live-cell imaging and evaluation of CFTR activity.Sensors & diagnostics · 2025Article
- Potential Resistance Mechanisms Exhibited by Cystic Fibrosis Patients Against SARS-CoV-2.Viruses · 2025Review
- A W1282X cystic fibrosis mouse allows the study of pharmacological and gene-editing therapeutics to restore CFTR function.Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society · 2025Article
- Nasal Epithelium Transcriptomics Predict Clinical Response to Elexacaftor/Tezacaftor/Ivacaftor.American journal of respiratory cell and molecular biology · 2024Article
- Therapeutic Interventions forJournal of clinical medicine · 2024Review
- Durable transgene expression and efficient re-administration after rAAV2.5T-mediated fCFTRΔR gene delivery to adult ferret lungs.Molecular therapy. Methods & clinical development · 2024Article
- Use of adenine base editing and homology-independent targeted integration strategies to correct the cystic fibrosis causing variant, W1282X.Human molecular genetics · 2023Article
- Factors associated with quality of life for cystic fibrosis family caregivers.Discover mental health · 2023Article
- Spatial covariance analysis reveals the residue-by-residue thermodynamic contribution of variation to the CFTR fold.Communications biology · 2022Article
- Intestinal Inflammation and Alterations in the Gut Microbiota in Cystic Fibrosis: A Review of the Current Evidence, Pathophysiology and Future Directions.Journal of clinical medicine · 2022Review
- Targeted Gene Insertion for Functional CFTR Restoration in Airway Epithelium.Frontiers in genome editing · 2022Article
- Translational precision medicine: an industry perspective.Journal of translational medicine · 2021Review
- Two Cases of Cystic Fibrosis with Compound Heterozygous Variants Reported for the First TimeBalkan medical journal · 2020Article
- The era of CFTR modulators: improvements made and remaining challenges.Breathe (Sheffield, England) · 2020Article
- Consistency of the Tools That Predict the Impact of Single Nucleotide Variants (SNVs) on Gene Functionality: TheBiomolecules · 2020Article
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.
Funding
Abstract
Genetics is the branch of biology concerned with study of individual genes and how they work whereas genomics is involved with the analysis of all genes and their interactions. Both of these approaches have been applied extensively to CF. Identification of the CFTR gene initiated the dissection of CF genetics at the molecular level. Subsequently, thousands of variants were found in the gene and the functional consequences of a subset have been studied in detail. The completion of the human genome ushered in a new phase of study where the role of genes beyond CFTR could be evaluated for their contribution to the severity of CF. This will be a brief overview of the contribution of these complementary methods to our understanding of CF pathogenesis.
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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.