ReviewGenetics in medicine : official journal of the American College of Medical Genetics2016
Cystic fibrosis on the African continent.
Review in Genetics in medicine : official journal of the American College of Medical Genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 20 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
20 citing papers in PubMed.
- Article
- From past to progress: a retrospective study on CFTR genetic testing in South Africa.Journal of community genetics · 2025Article
- Diagnostic scope: the AI can't see what the mind doesn't know.Diagnosis (Berlin, Germany) · 2025Review
- Article
- Diagnosing cystic fibrosis in low- and middle-income countries: challenges and strategies.Orphanet journal of rare diseases · 2024Review
- An African perspective on genetically diverse human induced pluripotent stem cell lines.Nature communications · 2024Article
- Racial inequities and rareJournal of clinical & translational endocrinology · 2024Article
- A comprehensive review of cystic fibrosis in Africa and Asia.Saudi journal of biological sciences · 2023Review
- Cystic Fibrosis Bone Disease: The Interplay between CFTR Dysfunction and Chronic Inflammation.Biomolecules · 2023Review
- The prevalence of vascular and metabolic complications after lung transplant in people with cystic fibrosis in a Dutch cohort.Clinics (Sao Paulo, Brazil) · 2023Article
- The burden of cystic fibrosis in North Africa.Frontiers in genetics · 2023Review
- The Need for Precision Therapies as Determined by Genetic Signature for Cystic Fibrosis.Journal of personalized medicine · 2021Article
- Cystic fibrosis in South Africa: spectrum of disease and determinants of outcome.ERJ open research · 2021Article
- Prenatal Ultrasound Suspicion of Cystic Fibrosis in a Multiethnic Population: Is ExtensiveGenes · 2021Article
- Article
- The influence of social determinants of health on the genetic diagnostic odyssey: who remains undiagnosed, why, and to what effect?Pediatric research · 2021Review
- Article
- Molecular Diagnosis and Genetic Counseling of Cystic Fibrosis and Related Disorders: New Challenges.Genes · 2020Review
- The future of cystic fibrosis care: a global perspective.The Lancet. Respiratory medicine · 2020Review
- CFTR Modulators: Shedding Light on Precision Medicine for Cystic Fibrosis.Frontiers in pharmacology · 2016Review
Corrections and comments
- Erratum issued
Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cystic fibrosis (CF; OMIM 219700) is a life-shortening and costly autosomal recessive disease that has been most extensively studied in individuals of Caucasian descent. There is ample evidence, however, that it also affects other ethnicities. In Africa there have been several reports of CF, but there has been no concerted effort toward establishing the molecular epidemiology of this disease on the continent, which is the first step toward outlining a public health strategy to effectively address the needs of these patients. A literature search revealed reports from only 12 of the 54 African states on the molecular analysis of the mutations present in suspected CF patients, resulting in the identification of 79 mutations. Based on previous functional investigations, 39 of these cause CF, 10 are of varying clinical consequence, 4 have no associated evidence regarding whether they cause CF, 4 are synonymous, 5 are novel, and 21 are unique to Africa. We propose that CF be more thoroughly investigated on the continent to ensure that the public health needs of African CF patients-both those in Africa and those of African descent living elsewhere-are met.Genet Med 18 7, 653-662.
Indexed as
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.