Sébastien Jacquemont

The paper describes the development of a harmonized multisite MRI protocol for pediatric brain imaging and validates its cross-site consistency.

This study investigates how 16p11.2 copy number variations affect white matter structure by analyzing axonal and myelin volume and g-ratio across different cohorts.

The paper analyzes EEG data from 4,812 individuals to identify shared and distinct neurophysiological signatures across psychiatric conditions and rare genetic variants.

gVCF2CNV converts gVCF files into CNV-compatible signals for large-scale WGS cohorts, achieving high precision in detecting deletions and duplications.

The paper develops FunBurd to analyze gene dosage effects on 43 traits in UK-Biobank, finding pleiotropy and non-monotonic responses linked to genetic constraint and brain-specific mechanisms.

An open, instruction-free EEG plus eye-tracking task battery for autism families (344 to 587 participants per task so far), with timing-validated integrated recordings that enable gaze-locked ERP analysis.

MCNV2 assesses CNV quality using Mendelian Precision, offering tools to compute, explore, and optimize CNV call accuracy in parent-offspring trios.

The paper examines how gene dosage, polygenic background, and environment influence complex traits like height and BMI using large-scale data from multiple cohorts.

This study identifies genetic maps of human sulcal complexity using rare and common variants, revealing new mechanistic pathways for cortical morphogenesis.

This study maps ASD genetic liability across cortical cell types using a functional genetic burden analysis of 124,416 individuals, showing developmentally dynamic liabilities and variant-specific contributions to different cell types.

The paper develops predictive models for intellectual disability in autistic children by integrating genetic variants and developmental milestones, achieving an AUC ROC of 0.65 and identifying 10% of ID cases.

The paper develops a method to analyze genomic deletions and duplications across the cerebral cortex and finds opposing effects on cognitive ability depending on gene expression patterns in different cortical regions.

The paper identifies a CNV duplication associated with higher cognitive ability and shows gene-dosage effects differ between deletions and duplications across biological processes.

The paper examines CNV frequency differences across genetic ancestry groups and finds lower prevalence of deleterious CNVs in non-European ancestry groups.

The paper investigates the impact of rare high-effect genetic variants on brain morphology and related behavioral traits in adolescents using the ABCD cohort.

This study shows that rare CNVs and PRS-IQ increase ASD risk independently of their effects on cognitive ability, suggesting ASD risk and cognitive ability are distinct outcomes of these variants.

The paper investigates how rare genetic mutations affect brain asymmetry by analyzing CNVs in a cohort of individuals and linking genetic alterations to brain structure and function.

The paper introduces a multi-polygenic risk score approach to study ASD's genetic architecture, finding that multi-PRSs capture similar risk as traditional PRS-ASD but reveal developmental mirroring effects.

This study examines subcortical brain alterations in CNV carriers across multiple neuropsychiatric disorders, finding shared and distinct patterns of structural changes.

The paper investigates how copy number variants in circadian pathway and insomnia risk genes contribute to ASD risk and sleep disturbances in children with ASD.

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 investigates how eight rare CNVs affect brain structure and phenotypes across 534 carriers, finding structural divergence and phenotypic convergence despite different genetic origins.

This study evaluates the stability of polygenic scores across different genome-wide association studies, finding low individual-level consistency and highlighting challenges for precision medicine.

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

Neuropsychiatric CNVs reorganize brain connectivity along shared patterns linked to cognitive traits and disorder severity.

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 examines the effects of neuropsychiatric CNVs on brain structure using neuroimaging data and identifies shared anatomical patterns across multiple CNVs.

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.

The paper identifies ASPHD1 as a key driver of reproductive traits in the 16p11.2 locus using biobank data, Mendelian randomization, and animal models.