Vincent M. Christoffels

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 compares AAV-TBX18 and AAV-Hcn2 in generating biological pacemaker activity, finding TBX18 ineffective while Hcn2 induces robust ectopic pacing.

This study shows how varying TBX5 levels in cardiomyocytes affects their maturation, specialization, and dedifferentiation, revealing a non-linear relationship with cardiac function.

This study develops AAV6-HCN4t gene therapy to enhance biological pacing in complete heart block, showing sustained effects in rats and pigs.

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.

This study maps the transcriptional changes during human pacemaker cell differentiation using single-cell RNA sequencing and identifies roles for WNT and TGFβ signaling in subtype specification.

This study identifies tbx5a as essential for cardiac looping in zebrafish, showing that heart tube twisting depends on intrinsic tissue patterning and is independent of cell addition.