Evidence map›Paper›PMID 40428393›Full record

ArticleGenes2025

A Patient with a Small Deletion Affecting Only Exon 1-Intron 1 of the

Yessica Yesenia Tapia, Claudia Ciaccio, Merve Begüm Bacınoğlu, Stefano D'Arrigo, Francesca Luisa Sciacca

Abstract readCase Reports
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. 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

5 authors.

Yessica Yesenia TapiaLaboratory of Cytogenetic, Service of Laboratory Medicine, Department of Diagnostic and Technology, Fondazione I. R. C. C. S. Istituto Neurologico Carlo Besta, 20133 Milan, Italy.ORCID 0009-0003-7607-9659
Claudia CiaccioUnit of Infantile Neuropsychiatry, Fondazione I. R. C. C. S. Istituto Neurologico Carlo Besta, 20133 Milan, Italy.ORCID 0000-0002-4100-7028
Merve Begüm BacınoğluUnit of Laboratory Medicine, Laboratory of Clinical Pathology, Fondazione I. R. C. C. S. Istituto Neurologico Carlo Besta, 20133 Milan, Italy.ORCID 0000-0002-8926-4090
Stefano D'ArrigoUnit of Infantile Neuropsychiatry, Fondazione I. R. C. C. S. Istituto Neurologico Carlo Besta, 20133 Milan, Italy.ORCID 0000-0001-5188-9418
Francesca Luisa SciaccaLaboratory of Cytogenetic, Service of Laboratory Medicine, Department of Diagnostic and Technology, Fondazione I. R. C. C. S. Istituto Neurologico Carlo Besta, 20133 Milan, Italy.ORCID 0000-0002-7411-4567

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genetic studies have identified numerous candidate genes for neurodevelopmental disorders associated with intellectual disability (ID) and autism spectrum disorders (ASD). Some genetic anomalies are very rare or challenging to detect, making it essential to validate the presence of gene mutations or copy number variations in additional patients with similar clinical phenotypes.

Indexed as

Autism Spectrum DisorderIntellectual DisabilityNeurodevelopmental DisordersRNA-Binding ProteinsSequence DeletionDNA Copy Number VariationsExonsHumansIntronsRNA-Binding Proteinsautism spectrum disordersintellectual disabilitymicrodeletion Xq22.1NXF5

Identifiers

PMID40428393
PMCPMC12111617

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.