Maarten Kooyman

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 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 introduces a method to compress genetic data using autoencoders that leverage linkage disequilibrium structure, achieving high reconstruction accuracy while reducing data size.

SpliPath identifies pathogenic splice-altering variants in ALS by integrating SpliceAI predictions with transcriptomics data, revealing hidden heritability in rare variant disorders.

GWAS in over one million individuals identify 611 loci across risk tolerance and risky behaviors, revealing shared genetic architecture and implicating glutamatergic and GABAergic neurotransmission.

Project MinE analyzes whole-genome sequencing data from ALS patients and controls to study genetic variation and its implications for disease susceptibility.

The paper introduces ExpansionHunter, a tool for detecting long repeat expansions from PCR-free WGS data, achieving high sensitivity and specificity in identifying pathogenic expansions.