Evidence map›Paper›PMID 40428419›Full record

ArticleGenes2025

The Expression of a Germline Fusion Gene Involving a Protein-Coding and a Long Non-Coding RNA Gene Results in Severe Brain Malformations.

Lukas Kaufmann, Christine Beichler, Jasmin Blatterer, Ingrid Janisch, Bence Csapó, Elisabeth Schreiner, Sarah Verheyen, Jochen B Geigl, Christian Windpassinger

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 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. Review
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

9 authors.

Lukas KaufmannDiagnostic and Research Institute of Human Genetics, Medical University of Graz, 8010 Graz, Austria.ORCID 0000-0001-8218-7486
Christine BeichlerDiagnostic and Research Institute of Human Genetics, Medical University of Graz, 8010 Graz, Austria.
Jasmin BlattererDiagnostic and Research Institute of Human Genetics, Medical University of Graz, 8010 Graz, Austria.
Ingrid JanischDiagnostic and Research Institute of Human Genetics, Medical University of Graz, 8010 Graz, Austria.
Bence CsapóDivision of Obstetrics, Department of Obstetrics and Gynaecology, Medical University of Graz, 8010 Graz, Austria.
Elisabeth SchreinerDiagnostic and Research Institute of Human Genetics, Medical University of Graz, 8010 Graz, Austria.ORCID 0009-0006-3924-8814
Sarah VerheyenDiagnostic and Research Institute of Human Genetics, Medical University of Graz, 8010 Graz, Austria.
Jochen B GeiglDiagnostic and Research Institute of Human Genetics, Medical University of Graz, 8010 Graz, Austria.ORCID 0000-0001-9160-0682
Christian WindpassingerDiagnostic and Research Institute of Human Genetics, Medical University of Graz, 8010 Graz, Austria.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

In the present study, an exceptional germline gene fusion involving the protein-coding

Indexed as

BrainGene FusionRNA, Long NoncodingTumor Suppressor ProteinsFemaleGerm CellsHumansMalePregnancyTrans-ActivatorsMN1 protein, humanRNA, Long NoncodingTrans-ActivatorsTumor Suppressor Proteinsbrain malformationsgene fusionlncRNAMN1

Identifiers

PMID40428419
PMCPMC12111516

What OpenQuestion holds

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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 OpenQuestion graph.