Evidence map›Paper›PMID 41555921›Full record

ArticleFrontiers in genetics2025

Nanopore sequencing enables combined detection of

Liselot van der Laan, Martin A Haagmans, Andrea Venema, Jennifer Kerkhof, Michael A Levy, Silvana Briuglia, Pilar Caro, Sebastian Sailer, Christian P Schaaf, Bekim Sadikovic and 4 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Article
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

14 authors.

Liselot van der LaanDepartment of Human Genetics, Amsterdam UMC, Amsterdam, Netherlands.
Martin A HaagmansDepartment of Human Genetics, Amsterdam UMC, Amsterdam, Netherlands.
Andrea VenemaDepartment of Human Genetics, Amsterdam UMC, Amsterdam, Netherlands.
Jennifer KerkhofLondon Health Science Centre, Verspeeten Clinical Genome Centre, London, ON, Canada.
Michael A LevyLondon Health Science Centre, Verspeeten Clinical Genome Centre, London, ON, Canada.
Silvana BriugliaDepartment of Biomedical and Dental Sciences and Morphofunctional Imaging, University of Messina, Messina, Italy.
Pilar CaroInstitute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Sebastian SailerInstitute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Christian P SchaafInstitute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Bekim SadikovicLondon Health Science Centre, Verspeeten Clinical Genome Centre, London, ON, Canada.
Mieke M van HaelstDepartment of Human Genetics, Amsterdam UMC, Amsterdam, Netherlands.
Mariëlle van GijnDepartment of Human Genetics, Amsterdam UMC, Amsterdam, Netherlands.
Mariëlle AldersDepartment of Human Genetics, Amsterdam UMC, Amsterdam, Netherlands.
Peter HennemanDepartment of Human Genetics, Amsterdam UMC, Amsterdam, Netherlands.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Hao-Fountain syndrome (HAFOUS) is a rare neurodevelopmental disorder caused by pathogenic variants in the Methods: We analyzed DNA extracted from the blood of five individuals carrying pathogenic Results: Nanopore sequencing successfully identified all pathogenic Conclusion: This study demonstrates that nanopore sequencing enables accurate, simultaneous detection of

Indexed as

DNA methylationepisignatureHao-Fountain syndromenanoporeUSP7

Identifiers

PMID41555921
PMCPMC12812390

What Socratic holds

Textmetadata
LicenceCC BY
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Registered trials

None linked

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 Socratic graph.