Richard Redon

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.

This study investigates how NSCLC cells reprogram endothelial cells into tumor endothelial cells, altering immune cell behavior in vitro.

This study shows that an ANGPTL6 variant causes vascular dysfunction and increases intracranial aneurysm risk in mice by disrupting matrix-bound ANGPTL6 function and integrin signaling.

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

The paper analyzes exome data from 22,319 individuals to identify rare CNVs and 22q11.21 dosage as risk factors for Alzheimer's disease.

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 identifies high-priority missense variants in SORL1 associated with increased Alzheimer's Disease risk and earlier onset, suggesting clinical counseling considerations for carriers.

The paper identifies transcriptional regulatory networks during human cardiac development by analyzing transcriptomic profiles and uncovering novel interactions among key transcription factors.

The paper identifies rare damaging variants in ATP8B4 and ABCA1 as novel risk factors for Alzheimer's Disease using exome sequencing data from 32,558 individuals.

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.

This study analyzes SNP-chip data from 2,184 French individuals to identify genetic clusters, detect gene flow barriers, and estimate population size changes, revealing historical demographic patterns.

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.

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

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