Geert Geeven

RNA-sequencing improves diagnosis for neurodevelopmental disorders by identifying pathogenic non-coding variants and reinterpretation of coding variants

This study uses RNA-seq to improve diagnosis of neurodevelopmental disorders by identifying non-coding variants and reinterpreting coding variants, increasing diagnostic yield by 12%.

Detailed Regulatory Interaction Map of the Human Heart Facilitates Gene Discovery for Cardiovascular Disease

The paper generates Hi-C data from human cardiac tissue and develops a method to identify regulatory interactions, showing how disease variants intersect with these interactions to prioritize causative genes.

Locus-Specific Enhancer Hubs And Architectural Loop Collisions Uncovered From Single Allele DNA Topologies

The paper introduces a new 3C method, MC-4C, to study multi-way DNA conformations and reveals cooperative and competitive chromatin interactions, including enhancer hubs and loop collisions.