Leander Beekman

Whole-genome sequencing implicates rare, low-frequency and structural non-coding variation at the SCN5A locus in Brugada syndrome

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.

The Brugada syndrome associated gene WT1 impacts on SCN5A expression and cardiac conduction

This study shows WT1 regulates SCN5A expression and cardiac conduction in Brugada syndrome through a regulatory element in the RV.

A rare non-coding enhancer variant in SCN5A contributes to the high prevalence of Brugada syndrome in Thailand

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.

Biallelic variants in POPDC2 cause a novel autosomal recessive syndrome presenting with cardiac conduction defects and variable hypertrophic cardiomyopathy

The genetic architecture of left ventricular non-compaction reveals both substantial overlap with other cardiomyopathies and a distinct aetiology in a subset of cases

This study identifies genetic overlaps and distinct variant classes in LVNC compared to DCM and HCM, revealing both shared and unique genetic mechanisms.