Thomas Bourgeron

The paper introduces a multiscale resource integrating genetics, brain imaging, and clinical data from autistic individuals and their relatives to explore genetic and neurobiological patterns in autism.

This study uses genome-wide meta-regression to analyze social behavior across different contexts, ages, and reporters, identifying six genetic loci and showing modest heritability.

The paper describes a new behavior in female C57BL/6J mice where they emit specific ultrasonic vocalizations during urination, with stereotyped inter-USV intervals and increased locomotor activity.

EAGER establishes a registry of autistic individuals and those with rare genetic conditions for genomic and phenotypic research, aiming to improve clinical trials and health outcomes through data sharing.

The paper constructs a PPI network of 100 high-confidence ASD genes, identifies novel interactions, and uses AlphaFold-Multimer to prioritize variants for functional validation in organoids.

The paper maps functional connectivity patterns in the somatosensory cortex during rest and emotional tasks in ASD and neurotypical individuals, linking them to adaptive functioning skills.

This paper replicates previous findings of differences in grey-white matter contrast in autism spectrum disorders using open data and finds no significant differences.

The paper investigates the relationship between glutamate and GABA gene-sets, autism symptoms, and cortical thickness using data from the EU-AIMS LEAP cohort.

The paper identifies patterns of neural variability in autism using fMRI across tasks, finding greater global connectivity deviations and similar spatial patterns in autistic individuals compared to controls.

The paper maps the odds ratio for autism associated with rare LoF variants in autism-associated genes and shows sub-diagnostic effects in undiagnosed individuals.

The paper identifies a multimodal brain pattern associated with autism by integrating gray and white matter morphology data and linking it to clinical symptoms.

This study identifies genetic correlates of phenotypic heterogeneity in autism by analyzing common and de novo variants across core features and co-occurring disabilities.

This study identifies gene dysregulation and striosome-matrix imbalance in Shank3 mutant mice, linking these changes to behavioral abnormalities associated with autism.

The paper identifies a recurrent SHANK3 frameshift variant in Autism Spectrum Disorder, showing de novo mutations and variable expressivity.

The paper examines how rare and common genomic variants affect brain functional connectivity, revealing how polygenicity and pleiotropy influence psychiatric conditions and brain networks.

The paper identifies brain-related genes under positive selection in primate evolution and links them to cognitive traits and neurological disorders.

The paper examines how CNVs in 16p11.2 and 22q11.2 affect functional brain connectivity in neuropsychiatric disorders, identifying shared dysconnectivity patterns across ASD, SZ, and deletions.

The paper estimates the effect sizes of deletions and duplications on autism risk and IQ using statistical models applied to CNV data from multiple cohorts.

The paper identifies atypical brain asymmetry in autism as a potential neurophenotype for stratification, showing individualized patterns linked to symptom severity and language delay.

This study investigates reward processing in autism spectrum disorder (ASD) and finds generalized hypoactivity in the ventral striatum during anticipation of both social and monetary rewards.

The paper develops a phenotypic stratification model to predict autism subtypes based on SC-RRB balance and applies it to fMRI data, identifying subtype-specific neural circuitry and gene expression patterns.

The paper quantifies the effect of copy number variants on cognitive ability using genomic data from 24,092 individuals, finding that 10,000 genes modulate intelligence.

This study examines the genomic architecture of neuroanatomical diversity using SNP data and MRI, finding polygenic influences and environmental factors affecting brain asymmetry.

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 conducts a GWAS to identify genetic variants associated with a cognitive predictor of dyslexia, finding significant associations with variants near MIR924HG and NKAIN3.

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 study conducts the first genome-wide association study (GWAS) of self-reported empathy, identifying genetic correlations with autism, schizophrenia, anorexia nervosa, and extraversion.

This paper conducts a meta-analysis and ABIDE cohort analysis to investigate cerebellar volume differences in autism, finding weak associations and potential publication bias.

This study identifies genetic loci associated with family and friendship satisfaction and finds negative correlations with psychiatric conditions.

This study identifies modifier genes in Phelan-McDermid syndrome patients by analyzing 22q13 rearrangements and their association with clinical features.