Evidence map›Paper›PMID 40662588›Full record

ArticleAutism research : official journal of the International Society for Autism Research2025

Protein-Altering Variants' Analysis in Autism Subgroups Uncovers Early Brain-Expressed Gene Modules Relevant to Autism Pathophysiology.

Gaia Scaccabarozzi, Luca Fumagalli, Maddalena Mambretti, Roberto Giorda, Marco Villa, Silvia Busti Ceccarelli, Laura Villa, Elisa Mani, Maria Nobile, Massimo Molteni and 2 more

Abstract read
In one paragraph

Article in Autism research : official journal of the International Society for Autism Research, 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. Protein-Altering Variants' Analysis in Autism Subgroups Uncovers Early Brain-Expressed Gene Modules Relevant to Autism Pathophysiology.Autism research : official journal of the International Society for Autism Research · 2025
    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

12 authors.

Gaia ScaccabarozziScientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Italy.ORCID 0009-0000-4520-7986
Luca FumagalliScientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Italy.
Maddalena MambrettiScientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Italy.
Roberto GiordaScientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Italy.
Marco VillaScientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Italy.
Silvia Busti CeccarelliScientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Italy.
Laura VillaScientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Italy.
Elisa ManiScientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Italy.
Maria NobileScientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Italy.
Massimo MolteniScientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Italy.
Uberto PozzoliScientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Italy.ORCID 0000-0003-0670-7106
Alessandro CrippaScientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Italy.ORCID 0000-0002-3407-0352

Funding

APC funded by Bibliosan.Ministero della Salute RicercaCorrente2025
6 · The paper itself

Abstract

Understanding the functional implications of genes' variants in autism heterogeneity is challenging. Gene set analysis examines the cumulative effect of multiple functionally converging genes. Here we explored whether a multi-step analysis could identify gene sets with different loads of protein-altering variants (PAVs) between two subgroups of autistic children. After subdividing our sample (n = 71, 3-12 years) based on higher (> 80; n = 43) and lower (

Indexed as

Autistic DisorderBrainGene Regulatory NetworksChildChild, PreschoolFemaleGenetic Predisposition to DiseaseGenetic VariationHumansMaleautismbrain expressiongeneticsheterogeneityprotein‐altering variants

Identifiers

PMID40662588
PMCPMC12384746

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.