Pierre Lindenbaum

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 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.

This study identifies novel HPE genes and oligogenic inheritance patterns in holoprosencephaly by integrating clinical data with exome sequencing and gene prioritization.

JfxNgs provides an interactive BAM/VCF viewer with JavaScript-based filtering and reformatting capabilities.