Evidence map›Paper›PMID 41953138›Full record

ArticleFrontiers in genetics2026

Nada El Makhzen, Alexander Nater, Jean-Sébastien Rougier, Alexandre Bokhobza, Javier Sanz, Christiane Zweier, Anne-Flore Hämmerli, Rémy Bruggmann, Laila Bouguenouch, Mounia Lakhdar Idrissi and 1 more

Abstract read
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In one paragraph

Article in Frontiers in genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors.

Nada El MakhzenIon Channels and Channelopathies Laboratory, Department of Medicine, Institute for Biochemistry and Molecular Medicine, University of Bern, Bern, Switzerland.
Alexander NaterDepartment of Biology, Interfaculty Bioinformatics Unit (IBU) and Swiss Institute of Bioinformatics (SIB), University of Bern, Bern, Switzerland.
Jean-Sébastien RougierIon Channels and Channelopathies Laboratory, Department of Medicine, Institute for Biochemistry and Molecular Medicine, University of Bern, Bern, Switzerland.
Alexandre BokhobzaCardiac Calcium Regulation and Nanosignalling Group, Department of Physiology, University of Bern, Bern, Switzerland.
Javier SanzDepartment of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
Christiane ZweierDepartment of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
Anne-Flore HämmerliIon Channels and Channelopathies Laboratory, Department of Medicine, Institute for Biochemistry and Molecular Medicine, University of Bern, Bern, Switzerland.
Rémy BruggmannDepartment of Biology, Interfaculty Bioinformatics Unit (IBU) and Swiss Institute of Bioinformatics (SIB), University of Bern, Bern, Switzerland.
Laila BouguenouchDepartment of Medical Genetics and Oncogenetics, University Hospital Hassan II, Sidi Mohamed Ben Abdellah University, Fez, Morocco.
Mounia Lakhdar IdrissiDepartment of Paediatrics, Hassan II University Hospital, Fez, Morocco.
Hugues AbrielIon Channels and Channelopathies Laboratory, Department of Medicine, Institute for Biochemistry and Molecular Medicine, University of Bern, Bern, Switzerland.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Cystic fibrosis (CF) is an autosomal recessive disease resulting from pathogenic CF transmembrane conductance regulator ( Methods and results: To amplify ∼25-kb fragments covering the whole Conclusion: This study demonstrates the potential of long-read sequencing using ONT as an efficient means to detect CF-causing variants in African populations. Given the significant genetic heterogeneity in Africa, this technique can serve as an affordable molecular screening tool for CF, especially in areas with constrained access to genetic screening.

Indexed as

CFTRCF transmembrane conductance regulatorcystic fibrosislong-read sequencingoxford nanopore technology

Identifiers

PMID41953138
PMCPMC13053646

What OpenQuestion holds

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Registered trials

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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.