Evidence map›Paper›PMID 40869915›Full record

ArticleGenes2025

Customized Chromosomal Microarrays for Neurodevelopmental Disorders.

Martina Rincic, Lukrecija Brecevic, Thomas Liehr, Kristina Gotovac Jercic, Ines Doder, Fran Borovecki

Abstract read
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. 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

6 authors.

Martina RincicSchool of Medicine, Croatian Institute for Brain Research, University of Zagreb, Salata 12, 10000 Zagreb, Croatia.ORCID 0000-0003-0390-5967
Lukrecija BrecevicSchool of Medicine, Croatian Institute for Brain Research, University of Zagreb, Salata 12, 10000 Zagreb, Croatia.
Thomas LiehrJena University Hospital, Institute of Human Genetics, Friedrich Schiller University, Am Klinikum 1, 07747 Jena, Germany.ORCID 0000-0003-1672-3054
Kristina Gotovac JercicDepartment for Personalized Medicine, University Hospital Center Zagreb, 10000 Zagreb, Croatia.ORCID 0000-0001-5892-7392
Ines DoderPediatric Primary Health Care, Health Center Zagreb-East, 10000 Zagreb, Croatia.
Fran BoroveckiDepartment for Personalized Medicine, University Hospital Center Zagreb, 10000 Zagreb, Croatia.

Funding

ADRIS scholarship How different are we humans? Diversity of evolutionarily new genes in neurological develop-mental disordersDAAD-MZO scholarship Structural variations of evolutionarily new genes underlying neurological developmental dis-ordersEuropean Commission NPOO.C3.2.R3-I1.04.0257
6 · The paper itself

Abstract

backgroundNeurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD), are genetically complex and often linked to structural genomic variations such as copy number variants (CNVs). Current diagnostic strategies face challenges in interpreting the clinical significance of such variants.

methodsWe developed a customized, gene-oriented chromosomal microarray (CMA) targeting 6026 genes relevant to neurodevelopment, aiming to improve diagnostic yield and candidate gene prioritization. A total of 39 patients with unexplained developmental delay, intellectual disability, and/or ASD were analyzed using this custom platform. Systems biology approaches were employed for downstream interpretation, including protein-protein interaction networks, centrality measures, and tissue-specific functional module analysis.

resultsPathogenic or likely pathogenic CNVs were identified in 31% of cases (9/29). Network analyses revealed candidate genes with key topological properties, including central "hubs" (e.g.,

conclusionsCustomized CMA offers enhanced detection of clinically relevant CNVs and provides a framework for prioritizing novel candidate genes based on biological network integration. This approach improves diagnostic accuracy in NDDs and identifies new targets for future functional and translational studies, highlighting the importance of glial involvement and immune-related pathways in neurodevelopmental pathology.

Indexed as

Autism Spectrum DisorderNeurodevelopmental DisordersOligonucleotide Array Sequence AnalysisAdolescentChildChild, PreschoolDNA Copy Number VariationsFemaleGene Regulatory NetworksHumansIntellectual DisabilityMaleProtein Interaction Maps12q24.32-q24.3315q13.221q22.26q27ASDCNVcustom CMANDDsprotein-protein interaction networks

Identifiers

PMID40869915
PMCPMC12385676

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.