Autism Spectrum Disorder Research

This study identifies CNTNAP3 mutations in ASD cohorts and shows its role in synaptic development and social behavior in mice.

The paper uses deep learning to analyze whole-genome data from ASD families, showing noncoding mutations significantly impact transcriptional and post-transcriptional regulation and contribute to autism.

This study assesses proprioceptive acuity and integration in adults with ASD and NT controls, finding intact acuity but impaired integration during postural control.

The paper examines frontal gamma power in toddlers at risk for autism and finds reduced gamma power in high-risk toddlers without ASD is linked to better expressive language.

This study integrates ASD GWAS summary statistics with gene expression data to identify differentially expressed genes in ASD and estimate heritability explained by predicted expression.

The paper investigates VEGF-A expression and neuroinflammation in the frontopolar cortex of ASD individuals, finding increased VEGF-A and microglial enrichment.

This study shows that prenatal exposure to valproic acid impairs chicks' preference for dynamic social stimuli, suggesting a link to early ASD symptoms.

The paper identifies cortical sulcal depth as an ASD endophenotype and shows neural correlates for clinical diagnosis differ from this endophenotype when accounting for TD sibling differences.

The paper identifies two placental DNA methylation markers, CYP2E1 and IRS2, associated with ASD risk and modulated by genetic and environmental factors.

The paper compares gene expression profiles of ASD and 22 cancer types, finding shared and opposing deregulations in specific cancers and common biological pathways.

This study examines the relationship between physiological arousal, self-reported anxiety, and facial expressions in autistic adolescents during a social skills intervention.

The paper investigates atypical cortical thickness developmental trajectories in ASD using longitudinal neuroimaging data and finds that ASD shows decreased thinning in early adolescence and increased thinning later, associated with ADOS scores.

The paper presents AutDB, a resource that curates rodent models of autism spectrum disorder (ASD) to analyze genetic, environmental, and treatment-related factors.

This study examines fMRI signal variability and complexity in children and adolescents with and without ASD, finding no group differences but significant associations with age, global efficiency, and behavioral severity.

This study identifies five genome-wide significant loci and seven shared with other traits in a large ASD GWAS, highlighting polygenic heterogeneity and the value of large-scale GWAS in ASD.

The paper models ASD-related variants in iPSC-derived neurons and finds hyperactive neuronal networks in CNTN5-/+ and EHMT2-/+ lines.

The paper defines scoring methods for tactile and auditory over-responsivity using parent reports and direct assessments and identifies white matter integrity differences in children with auditory over-responsivity.

This study identifies both rare and common genetic variants contributing to autism in the Faroe Islands by analyzing SNP array and whole exome sequencing data from 357 individuals.

This paper pilots the adaptation of the ELEAT tool in Portugal to assess environmental exposures in children with ASD, aiming to identify modifiable risk factors for the disorder.

This study identifies genes involved in detoxification and barrier permeability with variants linked to ASD and discovers gene-environment interactions relevant to the disorder.

This paper discusses the importance of big data approaches for understanding heterogeneity in autism and highlights the need for both supervised and unsupervised methods to model variability across multiple levels of analysis.

This study examines neural activity during conversation and rest in autistic males, finding increased inter-regional correlations in social processing regions during social tasks and rest, suggesting core and contextual neural features of autism.

This study examines the role of noncoding variation in autism spectrum disorder using whole genome sequencing of 2,076 genomes, finding no significant association after correction for multiple testing.

This study identifies 99 genes associated with autism spectrum disorder through large-scale exome sequencing, showing differences in mutation frequencies between ASD and severe neurodevelopmental delay groups.

This study examines sex differences in the link between executive function and social dysfunction in children and adolescents with ASD, finding significant sex differences in specific social domains.

This study uses normative models to analyze cortical thickness deviations in ASD, finding individualized patterns rather than common case-control differences.

This paper identifies a shared visual processing dysfunction in Nhe3 mutant Drosophila and autistic humans, suggesting a genetic basis for autism-related sensory alterations.

This study identifies sex-dependent and -independent biomarkers in ASD using post-mortem brain RNA-Seq and blood microarray data, highlighting sex-specific gene expression differences and pathway dysregulation.

The Italian Autism Network (ITAN) collects biological samples and clinical data from ASD patients and families to support genetic and biomarker research.