Bart P.C. van de Warrenburg

This study conducts a genome-wide association study of copy number variations in Parkinson's disease, identifying a significant PRKN deletion but limited replication in an independent dataset.

This paper develops voxelwise normative models of brain morphometry across the lifespan and applies them to study brain development after preterm birth and neurodegenerative disorders.

This study uses MRI volumetrics to analyze cerebellar and brainstem degeneration in SCA3, finding consistent atrophy patterns and reduced cerebrocerebellar covariance.

This study characterizes a human neuronal model of CACNA1A haploinsufficiency, revealing synaptic deficits and increased intrinsic excitability linked to reduced potassium channel function.

The paper reanalyzes exome sequencing data from rare disease cases to identify previously undetected copy number variants, resulting in diagnoses for 51 families and partial explanations for 34 individuals.

This study identifies structural variants in 6224 rare disease exomes, finding 0.4% diagnostic yield with 8 previously undetected pathogenic SVs.

The paper identifies and compares the abundance of ATXN3 splice variants in blood and cerebellum of SCA3/MJD patients and controls, finding tissue-specific expression patterns of full-length ataxin-3 isoforms.

This study systematically analyzes short tandem repeats in exomes to improve diagnostic yield in genetic testing.

This study identifies two genome-wide significant variants associated with Parkinson's disease progression and replicates known risk variants' effects on motor and cognitive decline.

The paper identifies mechanistic modules in ataxia by analyzing gene networks, expression patterns, and functional enrichment, revealing roles in neuronal homeostasis and stress responses.