Bobby P.C. Koeleman

The paper investigates how genetic variants affecting transcription factor binding contribute to valproate-induced birth defects and identifies EP300 as a key regulator involved in this process.

The paper estimates low penetrance of pathogenic epilepsy variants and shows common genetic background modifies risk.

This paper predicts drug response in epilepsy using multi-task gradient-boosted trees, identifying key genomic and clinical features that influence treatment outcomes.

This study conducts a genome-wide meta-analysis of over 29,000 people with epilepsy, identifying 26 loci and revealing subtype-specific genetic architectures.

This study develops and tests novel all-in-one plasmids for prime editing in hiPSC, achieving up to 50% edit efficiency with reduced off-target effects.

This study identifies strong genetic correlations between genetic generalized epilepsy and background EEG oscillations, particularly in the beta frequency band, suggesting shared biological mechanisms.

This study develops a zebrafish model for Dravet Syndrome and tests compounds that selectively target Nav1.1 or Nav1.6 channels, showing both reduce seizure-like behavior.

EXtrACtor enables efficient querying of ExAC and gnomAD databases for multiple genes or regions, with filtering options and a user-friendly interface.

This study identifies functionally distinct ERAP1 and ERAP2 haplotypes associated with Birdshot Uveitis and shows their combined effect enhances disease risk.

The paper identifies de novo variants in neurodevelopmental disorders with epilepsy and finds associations with specific genes and clinical features.

This paper uses transcriptomic imputation to identify gene-tissue associations linked to Anorexia Nervosa risk, finding significant links in both brain and metabolic tissues.

The paper develops a paralog conservation score to identify disease-associated genes and shows that disease variants are enriched at conserved sites across gene families.