Area of research
Genetics · Cellular and Molecular Neuroscience
Research interest
Research interests include Genetic Neurodegenerative Diseases, Craniofacial Disorders and Treatments, Metabolism and Genetic Disorders, and Pharmacogenetics and Drug Metabolism.
A 12-gene pharmacogenetic panel to prevent adverse drug reactions: an open-label, multicentre, controlled, cluster-randomised crossover implementation study
Implementing Pharmacogenomics in Europe: Design and Implementation Strategy of the Ubiquitous Pharmacogenomics Consortium
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics