Vincent-Raphaël Bourque

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 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.

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 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.