Autism Spectrum Disorder Research

This study systematically analyzes ASD-associated genes in C. elegans, identifying phenotypic relationships and reversible impairments in habituation learning.

The paper identifies three factors of ASD with distinct brain connectivity and symptom patterns, reconciling categorical and dimensional models of autism heterogeneity.

The paper models cortical thickness in autistic males relative to typically-developing age norms, identifying a subgroup with significant age-deviant cortical thickness.

The paper investigates the association between polygenic scores for ASD and the broad autism phenotype (BAP) in parents and their children, finding domain- and sex-specific links.

VariCarta aggregates and harmonizes genomic variants from ASD sequencing studies to prevent double-counting and improve association evidence.

The paper examines neural synchronization patterns in adolescents with autism spectrum disorder (ASD) compared to typically developing peers, finding increased fronto-parietal synchronization with more short desynchronization periods and altered relationships between synchronization properties and behavior.

This study identifies altered structural brain asymmetry in autism spectrum disorder using a large-scale meta-analysis of MRI data from 1,774 ASD cases and 1,809 controls.

The paper quantifies gaze idiosyncrasy in children with ASD and controls, finding it correlates with ASD severity and distinguishes ASD from controls more effectively than traditional measures.

This study identifies ASD-specific transcriptional changes in umbilical cord blood through a meta-analysis of two high-risk cohorts, highlighting environmental, immune, and epigenetic factors.

A cross-species machine learning approach using transgenic primate data improves diagnostic classification of ASD and OCD with higher accuracy than human-only models.

This study shows that EphB6 deletion in mice disrupts gut microbiota, leading to autism-like behaviors through vitamin B6 metabolism and E/I imbalance in the medial prefrontal cortex.

The paper identifies a perturbed gene network in leukocytes linked to ASD genetics and symptom severity through analysis of transcriptomics data from toddlers.

This study uses ASL-MRI to find reduced cerebral blood flow in the superior temporal sulcus in children with ASD, correlating with symptom severity and similar to previous PET/SPECT findings.

The paper identifies a multi-hit genomic architecture for ASD in consanguineous families, involving FEZF2 deletions and mutations in high-risk genes.

The paper shows shared genetic risk alleles between ASD and ADHD that have opposite effects on educational attainment, suggesting pleiotropic mechanisms.

This study investigates whether social and non-social autism symptom domains are genetically distinct by analyzing genetic correlations between systemizing and autism traits.

The paper investigates the role of inherited and de novo truncating mutations in high functioning autism and identifies pleiotropic effects of LRP1 variants across psychiatric phenotypes.

The paper reports exome sequencing of 457 ASD families, identifying 10.4% with known ASD genes and 3.4% with possibly associated variants, and provides statistical support for 34 ASD risk genes using the TADA framework.

The paper uses EEG to identify early functional brain differences in infants with tuberous sclerosis complex (TSC) that predict later autism spectrum disorder (ASD) development.

This study shows that placental allopregnanolone (ALLO) is critical for normal cerebellar development and social behavior in male mice, with ALLO deficiency leading to autism-like traits that can be rescued by ALLO treatment.

This study shows that chronic subconvulsive activity in early postnatal life leads to autism-like behaviors in rats without neurotoxicity, with sex-specific differences in behavior and susceptibility.

The paper identifies shared epigenetic architecture between autism and autistic traits by analyzing DNA methylation and genetic data across multiple cohorts.

This study identifies brain morphometry features that predict individual differences in ASD symptom severity using a subject-level machine learning approach.

This study investigates whether rare copy number variations (CNVs) moderate response to social skills training in ASD, finding that large CNVs are associated with worse outcomes while small CNVs show mixed effects.

This study investigates altered oscillatory connectivity in the visual system of individuals with autism spectrum disorder, finding reduced feedback connectivity and local processing dysregulation.

The paper investigates cerebrocerebellar circuit anomalies in a prenatal valproate model of autism using MRI and immunohistology, finding altered BOLD responses and reduced Purkinje cell numbers.

This study shows that Sema6A gene loss in mice reduces specific GABAergic interneurons, affecting neuronal connectivity and E/I balance in ASD.

The paper identifies mutual exclusivity patterns in de novo mutations in autism spectrum disorder, linking them to circadian clock and PI3K/AKT signaling pathways.

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.