Area of research
Genetics · Cellular and Molecular Neuroscience
Research interest
Research interests include Genetic Syndromes and Imprinting, Genetic Neurodegenerative Diseases, Genomics and Rare Diseases, and Genetics and Neurodevelopmental Disorders.
Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS)
Measuring What Matters to Individuals with Angelman Syndrome and Their Families: Development of a Patient-Centered Disease Concept Model
Reduced bioavailable manganese causes striatal urea cycle pathology in Huntington's disease mouse model