Boris Chaumette

The paper recalculates CNV penetrance for intellectual disability, showing lower estimates due to methodological differences, and recommends phenotype-specific risk reporting.

This study surveys 3,000 French individuals to assess their knowledge and misconceptions about medical genetics, revealing limited understanding and significant gaps in awareness of genetic testing limitations and legal frameworks.

This paper presents a method to derive a complete pharmacogenomic profile from exome sequencing data, validated against multiple reference assays.

This study identifies 77 genetic loci associated with suicidality through genome-wide association analyses across multiple cohorts and provides biological insights into its genetic architecture.

The paper identifies novel CNV loci and dose-dependent gene effects across six psychiatric disorders using genome-wide analysis.

The paper identifies shared and divergent genetic mechanisms across psychiatric disorders using gene-set burden analysis of copy number variants.

This study shows lithium partially rescues transcriptomic and epigenomic changes in AKAP11 heterozygous knockout neurons, suggesting potential therapeutic relevance for bipolar disorder and schizophrenia.

The paper identifies molecular signatures of neuronal hyperexcitability and lithium responsiveness in bipolar disorder neurons, suggesting new therapeutic strategies targeting Akt and AMPK pathways.

This study investigates transcriptomic and epigenomic changes in human neurons with heterozygous AKAP11 loss-of-function mutations, revealing dysregulation of enhancers and gene networks linked to bipolar disorder and schizophrenia.

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.

A genome-wide association study of 69,369 schizophrenia cases and 236,642 controls identifies 270 risk loci, prioritizes 130 genes, and links common and rare risk variants to neuronal synaptic biology.

This study shows chronic lithium treatment reduces neuronal excitability and shifts the excitatory/inhibitory balance toward inhibition in mouse cortical neurons.