Veikko Vuokila

The paper identifies a loss-of-function variant in INTS6 in a family with intellectual disability, showing transcriptomic effects including splicing defects and downregulation of synaptic genes.

This study identifies rare copy number duplications in protein coding regions as risk factors for essential tremor, but does not reliably identify specific susceptibility genes.

This study overexpresses STK32B in human cerebellar cells and identifies differentially expressed genes and pathways potentially relevant to essential tremor.

The paper identifies increased FLT3 expression in the dorsolateral prefrontal cortex as associated with Tourette Syndrome through transcriptome-wide association study.

This study performs a transcriptome-wide association study on 373,733 individuals to identify genes associated with miserableness, finding 104 signals across brain tissue panels and prioritizing 95 genes into credible sets.