ArticleJournal of the American Academy of Child and Adolescent Psychiatry2012
Blood-based gene expression signatures of infants and toddlers with autism.
Registry-linked trialOpen access · hybridAbstract read
In one paragraph
Article in Journal of the American Academy of Child and Adolescent Psychiatry, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06112093 (Using Repetitive Transcranial Magnetic Stimulation to Manage Headaches and Improve Rehabilitation Outcomes in Mild Traumatic Brain Injury), which is not on this map. Cited by 54 papers, 4 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
54citing papers in PubMed, 4 pooled it
4.0field-weighted citation impact, top 6% of its field
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.
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.
Using Repetitive Transcranial Magnetic Stimulation to Manage Headaches and Improve Rehabilitation Outcomes in Mild Traumatic Brain Injury: A Longitudinal Study
Who cites it
54 citing papers in PubMed, 4 syntheses or guidelines pooled it, 92 citations in OpenAlex.
- The Potential Use of Peripheral Blood Mononuclear Cells as Biomarkers for Treatment Response and Outcome Prediction in Psychiatry: A Systematic Review.Molecular diagnosis & therapy · 2021Pooled it
- A meta-analysis of two high-risk prospective cohort studies reveals autism-specific transcriptional changes to chromatin, autoimmune, and environmental response genes in umbilical cord blood.Molecular autism · 2019Pooled it
- Blood transcriptomic comparison of individuals with and without autism spectrum disorder: A combined-samples mega-analysis.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2017Pooled it
- Evaluation of gene expression classification studies: factors associated with classification performance.PloS one · 2014Pooled it
- The role of machine learning in autism spectrum disorder assessment and management.Pediatric research · 2025Review
- Dysregulated RNA-binding proteins and alternative splicing: Emerging roles in autism spectrum disorder.Molecules and cells · 2025Review
- Should We Continue to Tell Autistic People that Their Brains are Different?Psychological reports · 2025Review
- Transcriptome Study in Sicilian Patients with Autism Spectrum Disorder.Biomedicines · 2024Article
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- BrainGENIE: The Brain Gene Expression and Network Imputation Engine.Translational psychiatry · 2023Article
- Blood RNA Sequencing Indicates UpregulatedInternational journal of molecular sciences · 2022Article
- Sulforaphane improves mitochondrial metabolism in fibroblasts from patients with fragile X-associated tremor and ataxia syndrome.Neurobiology of disease · 2021Article
- Maternal Plasma Metabolic Profile Demarcates a Role for Neuroinflammation in Non-Typical Development of Children.Metabolites · 2021Article
- Expression Changes in Epigenetic Gene Pathways Associated With One-Carbon Nutritional Metabolites in Maternal Blood From Pregnancies Resulting in Autism and Non-Typical Neurodevelopment.Autism research : official journal of the International Society for Autism Research · 2021Article
- An Epigenetically Distinct Subset of Children With Autism Spectrum Disorder Resulting From Differences in Blood Cell Composition.Frontiers in neurology · 2021Article
- Article
- Comprehensive Analysis of RNA-Seq Gene Expression Profiling of Brain Transcriptomes Reveals Novel Genes, Regulators, and Pathways in Autism Spectrum Disorder.Brain sciences · 2020Article
- Phospholipidomics of peripheral blood mononuclear cells (PBMCs): the tricky case of children with autism spectrum disorder (ASD) and their healthy siblings.Analytical and bioanalytical chemistry · 2020Article
- Towards a Multivariate Biomarker-Based Diagnosis of Autism Spectrum Disorder: Review and Discussion of Recent Advancements.Seminars in pediatric neurology · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 4 institutions in 2 countries.
Stephen J GlattDr. Glatt is with the Psychiatric Genetic Epidemiology and Neurobiology Laboratory (PsychGENe Lab), Medical Genetics Research Center, State University of New York (SUNY) Upstate Medical University. Dr. Tsuang is with Harvard Institute of Psychiatric Epidemiology and Genetics, Harvard School of Public Health, and Harvard Medical School; the Center for Behavioral Genomics, University of California-San Diego (UCSD); Veterans Affairs San Diego Healthcare System; and the Institute of Genomic Medicine, UCSD. Dr. Winn is with UCSD and the Scripps Translational Science Institute. Drs. Chandler and Collins are with the Center for Behavioral Genomics, UCSD. Drs. Lopez, Weinfeld, Carter, Pierce, and Courchesne are with the Autism Center of Excellences, UCSD. Dr. Schork is with the Scripps Translational Science Institute.
Ming T TsuangDr. Glatt is with the Psychiatric Genetic Epidemiology and Neurobiology Laboratory (PsychGENe Lab), Medical Genetics Research Center, State University of New York (SUNY) Upstate Medical University. Dr. Tsuang is with Harvard Institute of Psychiatric Epidemiology and Genetics, Harvard School of Public Health, and Harvard Medical School; the Center for Behavioral Genomics, University of California-San Diego (UCSD); Veterans Affairs San Diego Healthcare System; and the Institute of Genomic Medicine, UCSD. Dr. Winn is with UCSD and the Scripps Translational Science Institute. Drs. Chandler and Collins are with the Center for Behavioral Genomics, UCSD. Drs. Lopez, Weinfeld, Carter, Pierce, and Courchesne are with the Autism Center of Excellences, UCSD. Dr. Schork is with the Scripps Translational Science Institute.
Mary WinnDr. Glatt is with the Psychiatric Genetic Epidemiology and Neurobiology Laboratory (PsychGENe Lab), Medical Genetics Research Center, State University of New York (SUNY) Upstate Medical University. Dr. Tsuang is with Harvard Institute of Psychiatric Epidemiology and Genetics, Harvard School of Public Health, and Harvard Medical School; the Center for Behavioral Genomics, University of California-San Diego (UCSD); Veterans Affairs San Diego Healthcare System; and the Institute of Genomic Medicine, UCSD. Dr. Winn is with UCSD and the Scripps Translational Science Institute. Drs. Chandler and Collins are with the Center for Behavioral Genomics, UCSD. Drs. Lopez, Weinfeld, Carter, Pierce, and Courchesne are with the Autism Center of Excellences, UCSD. Dr. Schork is with the Scripps Translational Science Institute.
Sharon D ChandlerDr. Glatt is with the Psychiatric Genetic Epidemiology and Neurobiology Laboratory (PsychGENe Lab), Medical Genetics Research Center, State University of New York (SUNY) Upstate Medical University. Dr. Tsuang is with Harvard Institute of Psychiatric Epidemiology and Genetics, Harvard School of Public Health, and Harvard Medical School; the Center for Behavioral Genomics, University of California-San Diego (UCSD); Veterans Affairs San Diego Healthcare System; and the Institute of Genomic Medicine, UCSD. Dr. Winn is with UCSD and the Scripps Translational Science Institute. Drs. Chandler and Collins are with the Center for Behavioral Genomics, UCSD. Drs. Lopez, Weinfeld, Carter, Pierce, and Courchesne are with the Autism Center of Excellences, UCSD. Dr. Schork is with the Scripps Translational Science Institute.
Melanie CollinsDr. Glatt is with the Psychiatric Genetic Epidemiology and Neurobiology Laboratory (PsychGENe Lab), Medical Genetics Research Center, State University of New York (SUNY) Upstate Medical University. Dr. Tsuang is with Harvard Institute of Psychiatric Epidemiology and Genetics, Harvard School of Public Health, and Harvard Medical School; the Center for Behavioral Genomics, University of California-San Diego (UCSD); Veterans Affairs San Diego Healthcare System; and the Institute of Genomic Medicine, UCSD. Dr. Winn is with UCSD and the Scripps Translational Science Institute. Drs. Chandler and Collins are with the Center for Behavioral Genomics, UCSD. Drs. Lopez, Weinfeld, Carter, Pierce, and Courchesne are with the Autism Center of Excellences, UCSD. Dr. Schork is with the Scripps Translational Science Institute.
Linda LopezDr. Glatt is with the Psychiatric Genetic Epidemiology and Neurobiology Laboratory (PsychGENe Lab), Medical Genetics Research Center, State University of New York (SUNY) Upstate Medical University. Dr. Tsuang is with Harvard Institute of Psychiatric Epidemiology and Genetics, Harvard School of Public Health, and Harvard Medical School; the Center for Behavioral Genomics, University of California-San Diego (UCSD); Veterans Affairs San Diego Healthcare System; and the Institute of Genomic Medicine, UCSD. Dr. Winn is with UCSD and the Scripps Translational Science Institute. Drs. Chandler and Collins are with the Center for Behavioral Genomics, UCSD. Drs. Lopez, Weinfeld, Carter, Pierce, and Courchesne are with the Autism Center of Excellences, UCSD. Dr. Schork is with the Scripps Translational Science Institute.
Melanie WeinfeldDr. Glatt is with the Psychiatric Genetic Epidemiology and Neurobiology Laboratory (PsychGENe Lab), Medical Genetics Research Center, State University of New York (SUNY) Upstate Medical University. Dr. Tsuang is with Harvard Institute of Psychiatric Epidemiology and Genetics, Harvard School of Public Health, and Harvard Medical School; the Center for Behavioral Genomics, University of California-San Diego (UCSD); Veterans Affairs San Diego Healthcare System; and the Institute of Genomic Medicine, UCSD. Dr. Winn is with UCSD and the Scripps Translational Science Institute. Drs. Chandler and Collins are with the Center for Behavioral Genomics, UCSD. Drs. Lopez, Weinfeld, Carter, Pierce, and Courchesne are with the Autism Center of Excellences, UCSD. Dr. Schork is with the Scripps Translational Science Institute.
Cindy CarterDr. Glatt is with the Psychiatric Genetic Epidemiology and Neurobiology Laboratory (PsychGENe Lab), Medical Genetics Research Center, State University of New York (SUNY) Upstate Medical University. Dr. Tsuang is with Harvard Institute of Psychiatric Epidemiology and Genetics, Harvard School of Public Health, and Harvard Medical School; the Center for Behavioral Genomics, University of California-San Diego (UCSD); Veterans Affairs San Diego Healthcare System; and the Institute of Genomic Medicine, UCSD. Dr. Winn is with UCSD and the Scripps Translational Science Institute. Drs. Chandler and Collins are with the Center for Behavioral Genomics, UCSD. Drs. Lopez, Weinfeld, Carter, Pierce, and Courchesne are with the Autism Center of Excellences, UCSD. Dr. Schork is with the Scripps Translational Science Institute.
Nicholas SchorkDr. Glatt is with the Psychiatric Genetic Epidemiology and Neurobiology Laboratory (PsychGENe Lab), Medical Genetics Research Center, State University of New York (SUNY) Upstate Medical University. Dr. Tsuang is with Harvard Institute of Psychiatric Epidemiology and Genetics, Harvard School of Public Health, and Harvard Medical School; the Center for Behavioral Genomics, University of California-San Diego (UCSD); Veterans Affairs San Diego Healthcare System; and the Institute of Genomic Medicine, UCSD. Dr. Winn is with UCSD and the Scripps Translational Science Institute. Drs. Chandler and Collins are with the Center for Behavioral Genomics, UCSD. Drs. Lopez, Weinfeld, Carter, Pierce, and Courchesne are with the Autism Center of Excellences, UCSD. Dr. Schork is with the Scripps Translational Science Institute.
Karen Pierce *Dr. Glatt is with the Psychiatric Genetic Epidemiology and Neurobiology Laboratory (PsychGENe Lab), Medical Genetics Research Center, State University of New York (SUNY) Upstate Medical University. Dr. Tsuang is with Harvard Institute of Psychiatric Epidemiology and Genetics, Harvard School of Public Health, and Harvard Medical School; the Center for Behavioral Genomics, University of California-San Diego (UCSD); Veterans Affairs San Diego Healthcare System; and the Institute of Genomic Medicine, UCSD. Dr. Winn is with UCSD and the Scripps Translational Science Institute. Drs. Chandler and Collins are with the Center for Behavioral Genomics, UCSD. Drs. Lopez, Weinfeld, Carter, Pierce, and Courchesne are with the Autism Center of Excellences, UCSD. Dr. Schork is with the Scripps Translational Science Institute.
Eric Courchesne *Dr. Glatt is with the Psychiatric Genetic Epidemiology and Neurobiology Laboratory (PsychGENe Lab), Medical Genetics Research Center, State University of New York (SUNY) Upstate Medical University. Dr. Tsuang is with Harvard Institute of Psychiatric Epidemiology and Genetics, Harvard School of Public Health, and Harvard Medical School; the Center for Behavioral Genomics, University of California-San Diego (UCSD); Veterans Affairs San Diego Healthcare System; and the Institute of Genomic Medicine, UCSD. Dr. Winn is with UCSD and the Scripps Translational Science Institute. Drs. Chandler and Collins are with the Center for Behavioral Genomics, UCSD. Drs. Lopez, Weinfeld, Carter, Pierce, and Courchesne are with the Autism Center of Excellences, UCSD. Dr. Schork is with the Scripps Translational Science Institute.
Center for Autism and Related Disorders · USScripps Research Institute · USHarvard University · USSUNY Upstate Medical University · US
Funding
Systems BiologyU19AG023122 · NIA · TRANSLATIONAL GENOMICS RESEARCH INST · PI Thomas Girke, NICHOLAS Joseph SCHORK · 2004 to 2026
$102.6MSCRIPPS TRANSLATIONAL SCIENCE INSTITUTE (UL1)UL1RR025774 · NCRR · SCRIPPS RESEARCH INSTITUTE, THE · PI TOPOL, ERIC JEFFREY · 2008 to 2011
$16.3MSubstance Abuse & Behavioral Disinhibition: Integrating Genes & EnvironmentU01DA024417 · NIDA · UNIVERSITY OF MINNESOTA · PI IACONO, WILLIAM G. · 2007 to 2010
$10.8MTARGETING GENETIC PATHWAYS FOR BRAIN OVERGROWTH IN AUTISM SPECTRUM DISORDERSP50MH081755 · NIMH · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI COURCHESNE, ERIC · 2007 to 2013
$10.3MCreating a Pediatric Imaging-Genomics Data ResourceRC2DA029475 · NIDA · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI CHANG, LINDA, DALE, ANDERS M · 2009 to 2011
$9.1MImaging Studies in Neurotoxicity and NeurodevelopmentU54NS056883 · NINDS · UNIVERSITY OF HAWAII AT MANOA · PI CHANG, LINDA · 2007 to 2011
$8.4MGenomic Association Study of Bipolar DisorderR01MH078151 · NIMH · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI KELSOE, JOHN R. · 2007 to 2009
$5.5MStudying the Biology and Behavior of Autism at 1-Year: The Well-Baby Check-Up AppR01MH080134 · NIMH · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI PIERCE, KAREN L · 2008 to 2017
$3.3MStructural & Metabolic Neuroimaging Biomarkers in Early Alzheimer's DiseaseR01AG031224 · NIA · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI DALE, ANDERS M · 2008 to 2012
$1.9MSchizophrenia Biomarkers: Blood vs Brain Gene ExpressionR21MH075027 · NIMH · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI TSUANG, MING T. · 2005 to 2006
$336kCNS HIV ANTI-RETROVIRAL THERAPY EFFECTS RESEARCH /CHARTER/ -278022005-278022005N01MH022005 · NIMH · UNIVERSITY OF CA -SAN DIEGO · PI GRANT, IGOR · 2003 to 2006
–NCRR NIH HHS UL1 RR025774NCRR NIH HHS UL1RR025774NIA NIH HHS R01 AG031224NIA NIH HHS R01AG031224NIA NIH HHS U19 AG023122NIA NIH HHS U19AG023122NIDA NIH HHS RC2 DA029475NIDA NIH HHS RC2DA029475NIDA NIH HHS U01 DA024417NIDA NIH HHS U01DA024417NIMH NIH HHS N01 MH022005NIMH NIH HHS P50 MH081755NIMH NIH HHS P50MH081755NIMH NIH HHS P50MH081755-0003NIMH NIH HHS R01 MH078151NIMH NIH HHS R01MH078151NIMH NIH HHS R01 MH080134NIMH NIH HHS R01MH080134NIMH NIH HHS R21 MH075027NIMH NIH HHS R21MH075027NINDS NIH HHS U54 NS056883NINDS NIH HHS U54NS056883
Abstract
objectiveAutism spectrum disorders (ASDs) are highly heritable neurodevelopmental disorders that onset clinically during the first years of life. ASD risk biomarkers expressed early in life could significantly impact diagnosis and treatment, but no transcriptome-wide biomarker classifiers derived from fresh blood samples from children with autism have yet emerged.
methodUsing a community-based, prospective, longitudinal method, we identified 60 infants and toddlers at risk for ASDs (autistic disorder and pervasive developmental disorder), 34 at-risk for language delay, 17 at-risk for global developmental delay, and 68 typically developing comparison children. Diagnoses were confirmed via longitudinal follow-up. Each child's mRNA expression profile in peripheral blood mononuclear cells was determined by microarray.
resultsPotential ASD biomarkers were discovered in one-half of the sample and used to build a classifier, with high diagnostic accuracy in the remaining half of the sample.
conclusionsThe mRNA expression abnormalities reliably observed in peripheral blood mononuclear cells, which are safely and easily assayed in infants, offer the first potential peripheral blood-based, early biomarker panel of risk for autism in infants and toddlers. Future work should verify these biomarkers and evaluate whether they may also serve as indirect indices of deviant molecular neural mechanisms in autism.
Indexed as
Child Development Disorders, PervasiveChild, PreschoolCross-Sectional StudiesDNA ProbesFemaleGene Expression ProfilingGenetic MarkersGenetic Predisposition to DiseaseHumansInfantLanguage Development DisordersLeukocytes, MononuclearLongitudinal StudiesMaleOligonucleotide Array Sequence AnalysisProspective StudiesDNA ProbesGenetic MarkersRNA, Messenger
Identifiers
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Registered trials
NCT06112093ClinicalTrials.gov
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.