Elise A. Douard

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

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.

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.

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.

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.