Evidence map›Paper›PMID 41107264›Full record

ArticleScientific reports2025

Neurometabolic profiles of autism spectrum disorder patients with genetic variants in specific neurotransmission and synaptic genes.

Joana Vilela, Andreia C Pereira, Inês R Violante, Susana Mouga, Célia Rasga, João Xavier Santos, Hugo Martiniano, Ana Rita Marques, Guiomar Oliveira, Miguel Castelo-Branco and 1 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Scientific reports, 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

11 authors.

Joana Vilela *Departamento de Promoção da Saúde e Prevenção de Doenças Não Transmissíveis, Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisbon, Portugal.
Andreia C Pereira *Coimbra Institute for Biomedical Imaging and Translational Research (CIBIT), Pólo das Ciências da Saúde, University of Coimbra, Azinhaga de Santa Comba, 3000-548, Coimbra, Portugal.
Inês R ViolanteCoimbra Institute for Biomedical Imaging and Translational Research (CIBIT), Pólo das Ciências da Saúde, University of Coimbra, Azinhaga de Santa Comba, 3000-548, Coimbra, Portugal.
Susana MougaCoimbra Institute for Biomedical Imaging and Translational Research (CIBIT), Pólo das Ciências da Saúde, University of Coimbra, Azinhaga de Santa Comba, 3000-548, Coimbra, Portugal.
Célia RasgaDepartamento de Promoção da Saúde e Prevenção de Doenças Não Transmissíveis, Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisbon, Portugal.
João Xavier SantosDepartamento de Promoção da Saúde e Prevenção de Doenças Não Transmissíveis, Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisbon, Portugal.
Hugo MartinianoDepartamento de Promoção da Saúde e Prevenção de Doenças Não Transmissíveis, Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisbon, Portugal.
Ana Rita MarquesDepartamento de Promoção da Saúde e Prevenção de Doenças Não Transmissíveis, Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisbon, Portugal.
Guiomar OliveiraCoimbra Institute for Biomedical Imaging and Translational Research (CIBIT), Pólo das Ciências da Saúde, University of Coimbra, Azinhaga de Santa Comba, 3000-548, Coimbra, Portugal.
Miguel Castelo-Branco *Coimbra Institute for Biomedical Imaging and Translational Research (CIBIT), Pólo das Ciências da Saúde, University of Coimbra, Azinhaga de Santa Comba, 3000-548, Coimbra, Portugal. mcbranco@fmed.uc.pt.
Astrid Moura Vicente *Departamento de Promoção da Saúde e Prevenção de Doenças Não Transmissíveis, Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisbon, Portugal. astrid.vicente@insa.min-saude.pt.

Funding

Large Scale Sequencing and Analysis of GenomesU54HG003067 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI GABRIEL, STACEY, LANDER, ERIC S · 2004 to 2015
$568.6M
Center for Common Disease GeneticsUM1HG008895 · NHGRI · BROAD INSTITUTE, INC. · PI DALY, MARK JOSEPH, GABRIEL, STACEY · 2016 to 2020
$111.2M
5/5 - Elucidating the Genetic Architecture of Autism by Deep Genomic SequencingR01MH089482 · NIMH · VANDERBILT UNIVERSITY · PI SUTCLIFFE, JAMES S · 2009 to 2010
$5.2M
2/5-Elucidating the Genetic Architecture of Autism by Deep Genomic SequencingR01MH089208 · NIMH · BROAD INSTITUTE, INC. · PI DALY, MARK JOSEPH · 2009 to 2010
$4.2M
4/4 The Autism Sequencing Consortium: Autism gene discovery in the >20,000 exomes (supplement)U01MH100239 · NIMH · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI STATE, MATTHEW W. · 2013 to 2015
$3.0M
1/5: Elucidating the Genetic Architecture of Autism by Deep Genomic SequencingR01MH089175 · NIMH · BAYLOR COLLEGE OF MEDICINE · PI GIBBS, RICHARD A · 2009 to 2010
$3.0M
1/4-The Autism Sequencing Consortium: Autism gene discovery in >20,000 exomesU01MH100233 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI BUXBAUM, JOSEPH D. · 2013 to 2015
$2.5M
2/4-The Autism Sequencing Consortium: Autism gene discovery in >20,000 exomesU01MH100229 · NIMH · BROAD INSTITUTE, INC. · PI DALY, MARK JOSEPH · 2013 to 2015
$1.5M
3/5-Elucidating the Genetic Architecture of Autism by Deep Genomic SequencingR01MH089025 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI BUXBAUM, JOSEPH D. · 2009 to 2010
$1.4M
4/5-Elucidating the Genetic Architecture of Autism by Deep Genomic SequencingR01MH089004 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI SCHELLENBERG, GERARD DAVID · 2009 to 2010
$1.2M
3/4 - The Autism Sequencing Consortium: Autism gene discovery in >20,000 exomesU01MH100209 · NIMH · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI DEVLIN, BERNIE · 2013 to 2015
$908k
Fundação para a Ciência e a Tecnologia Centre grants to BioISI (DOI: 10.54499/UIDB/04046/2020, UIDP/04046/2020, UID/04046/2025), PAC-POCI-01-0145-FEDER-016428 MEDPERSYSTFundação para a Ciência e a Tecnologia PAC-POCI-01-0145-FEDER-016428 MEDPERSYSTNHGRI NIH HHS U54 HG003067NHGRI NIH HHS UM1 HG008895NIMH NIH HHS R01 MH089004NIMH NIH HHS R01 MH089025NIMH NIH HHS R01 MH089175NIMH NIH HHS R01 MH089208NIMH NIH HHS R01 MH089482NIMH NIH HHS U01 MH100209NIMH NIH HHS U01 MH100229NIMH NIH HHS U01 MH100233NIMH NIH HHS U01 MH100239
6 · The paper itself

Abstract

Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by impaired social interaction, and restricted and repetitive patterns of behavior. ASD presents as a clinical spectrum, with variable levels of severity and multiple co-occurring conditions. The etiology of ASD may involve hundreds of genes and there is evidence that neurotransmitter and synaptic (NS) pathways are implicated. Proton Magnetic Resonance Spectroscopy (

Indexed as

Autism Spectrum DisorderGenetic VariationSynapsesSynaptic TransmissionAdolescentAdultAspartic AcidBrainCase-Control StudiesChildCreatineFemalegamma-Aminobutyric AcidGlutamic AcidHumansMaleAspartic AcidCreatinegamma-Aminobutyric AcidGlutamic AcidN-acetylaspartateNeurotransmitter AgentsAutism spectrum disorderGABAGlutamateMagnetic resonance spectroscopyNeurogeneticsSynapse

Identifiers

PMID41107264
PMCPMC12534664

What OpenQuestion holds

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Registered trials

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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.