Laura Domènech

MarkerMatch improves CNV detection sensitivity across genotyping arrays by matching probes based on proximity, outperforming consensus probe methods.

This study identifies six genome-wide significant risk loci for tic disorders and links genetic risk to specific brain cell types and circuits.

This study identifies distinct rare de novo coding variants associated with Tourette Syndrome, highlighting loss-of-function mutations and novel candidate genes.

The paper introduces BATI, a Bayesian rare variant association test that outperforms existing methods in detecting rare variants associated with complex diseases, especially when genetic variation explains little phenotypic variance.