GuidelineEuropean journal of human genetics : EJHG2009
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations.
Guideline in European journal of human genetics : EJHG, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 76 papers, 2 of them syntheses 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
76 citing papers in PubMed, 2 syntheses or guidelines pooled it, 241 citations in OpenAlex.
- European guidelines for the diagnosis and treatment of pancreatic exocrine insufficiency: UEG, EPC, EDS, ESPEN, ESPGHAN, ESDO, and ESPCG evidence-based recommendations.United European gastroenterology journal · 2025Guideline
- Guidelines for the genetic diagnosis of hereditary recurrent fevers.Annals of the rheumatic diseases · 2012Guideline
- Targeted Therapy for Restoring CFTR Activity: From Experimental to Clinical Features.International journal of molecular sciences · 2026Review
- Review
- Genetic profiling enhances cystic fibrosis prenatal diagnosis.Scientific reports · 2026Article
- Diseases Common in Persons With Cystic Fibrosis Among CFTR Heterozygotes.JAMA internal medicine · 2025Article
- Innovative all-in-one exome sequencing strategy for diagnostic genetic testing in male infertility: Validation and 10-month experience.Andrology · 2025Article
- Prenatal genetic diagnosis of monogenic diseases.Advances in laboratory medicine · 2023Article
- Clinical Consequences and Functional Impact of the Rare S737F CFTR Variant and Its Responsiveness to CFTR Modulators.International journal of molecular sciences · 2023Article
- Correlation between CFTR variants and outcomes of ART in patients with CAVD in Central China.Scientific reports · 2023Article
- The Significance of External Quality Assessment Schemes for Molecular Testing in Clinical Laboratories.Cancers · 2022Review
- Differential Diagnosis of Azoospermia in Men with Infertility.Journal of clinical medicine · 2021Review
- Prenatal Ultrasound Suspicion of Cystic Fibrosis in a Multiethnic Population: Is ExtensiveGenes · 2021Article
- Genetic testing for men with infertility: techniques and indications.Translational andrology and urology · 2021Review
- Article
- Molecular analysis ofThe Egyptian journal of medical human genetics · 2021Article
- Molecular Diagnosis and Genetic Counseling of Cystic Fibrosis and Related Disorders: New Challenges.Genes · 2020Review
- The true panel of cystic fibrosis mutations in the Sicilian population.BMC medical genetics · 2020Article
- Genome sequencing of human in vitro fertilisation embryos for pathogenic variation screening.Scientific reports · 2020Article
- The Role of ExtendedInternational journal of neonatal screening · 2020Review
16 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
16 authors at 13 institutions in 10 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The increasing number of laboratories offering molecular genetic analysis of the CFTR gene and the growing use of commercial kits strengthen the need for an update of previous best practice guidelines (published in 2000). The importance of organizing regional or national laboratory networks, to provide both primary and comprehensive CFTR mutation screening, is stressed. Current guidelines focus on strategies for dealing with increasingly complex situations of CFTR testing. Diagnostic flow charts now include testing in CFTR-related disorders and in fetal bowel anomalies. Emphasis is also placed on the need to consider ethnic or geographic origins of patients and individuals, on basic principles of risk calculation and on the importance of providing accurate laboratory reports. Finally, classification of CFTR mutations is reviewed, with regard to their relevance to pathogenicity and to genetic counselling.
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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.