Autism Spectrum Disorder Research

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.

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 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 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.

This study investigates sex differences in brain structure related to autism traits using twin data, finding that females show greater environmental impact on brain morphology compared to males.

The paper uses machine learning to identify a resting-state functional connectivity pattern associated with autism spectrum disorder endophenotypes and links it to communication impairment severity.

The paper identifies two functional connectivity subtypes in ASD and controls, showing distinct brain-behavior relationships and a continuum from ASD to controls within one subtype.

This study identifies PPP1R3F as a master regulator in ASDs using network deconvolution and RNA-Seq data from cerebellum samples.

This paper presents the largest case-control epigenome-wide association study (EWAS) for autism spectrum disorder (ASD) using blood DNA methylation data, finding no significant CpG sites but suggestive associations and concordance with brain samples.

This study identifies rare paternally-inherited structural variants contributing to autism by disrupting noncoding regions and coding genes, with differential parental contributions.

The paper examines brain networks associated with fluid intelligence in ASD and typically developing children, finding increased connectivity in specific brain regions in ASD despite equivalent intelligence scores.

This study shows that embryonic exposure to valproic acid disrupts social predispositions in newly-hatched chicks without affecting imprinting learning.

This study shows that using smartglasses-based socioemotional coaching reduces ADHD-related symptoms in individuals with autism.

The paper associates elevated polygenic autism risk with differential DNA methylation at birth, using a large cohort of infants and integrating genetic and epigenetic data.

This study finds that hypersensitivity to touch is strongly linked to sleep disturbances in children with autism, explaining 24% of the variance in sleep disturbance scores.

The paper identifies transcriptionally downregulated genes in autism associated with cortical thickness differences using MRI and gene expression data.

The paper investigates early brain network alterations in toddlers and preschoolers with autism using gaze patterns and brain activity during social scene exploration, finding increased hyper-activity and hyper-connectivity in social brain networks.