Thomas Renne

Determinants of functional burden pleiotropy and gene dosage responses across human traits

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.

Genetic and Cortical Cell-Type Liability Architecture of Autism

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.

Integrating genomic variants and developmental milestones to predict cognitive and adaptive outcomes in autistic children

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.

Genomic deletion and duplication effects on cognitive ability lie at the opposing ends of the cortical sensorimotor-association hierarchy

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.

Effects of gene dosage on cognitive ability: A function-based association study across brain and non-brain processes

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

Investigating the contributions of circadian pathway and insomnia risk genes to autism and sleep disturbances

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.

Genome wide analysis of gene dosage in 24,092 individuals shows that 10,000 genes modulate cognitive ability

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.