Jean‐Jacques Schott

This study investigates the pathogenic effects of the DES p.R406W mutation, showing it causes electrical and structural heart remodeling linked to arrhythmias and sudden cardiac death.

This study identifies rare and low-frequency non-coding variants at the SCN5A locus associated with Brugada syndrome using whole-genome sequencing and functional assays.

SURFBAT approximates transmission-disequilibrium tests using imputed haplotypes to detect genotype-phenotype associations while being robust to population stratification.

The paper identifies a rare non-coding enhancer variant in SCN5A associated with Brugada syndrome in Thailand, showing it disrupts a transcription factor binding site and reduces sodium current.

The paper evaluates whether using a local reference panel improves imputation accuracy in French individuals compared to a public reference panel, showing benefits of combining both approaches.

The paper analyzes genetic structure in Brittany and the Loire basin to understand Western Europe's demographic history, finding increased population differentiation linked to steppe and Neolithic ancestry.

The paper performs a genome-wide association meta-analysis of mitral valve prolapse, identifying new risk loci and genes involved in cardiac development and aging.

This study identifies three new susceptibility genes for calcific aortic valve stenosis through GWAS and TWAS, highlighting roles in inflammation, mineralization, and blood vessel integrity.