EMBO Associate Member
Stanford University | United States
Our research interests have focused on the discovery of genes involved in heritable disorders and the study of their functions and of disease-causing mechanisms in human tissues and animal models. Recently, we developed mouse models for human microdeletion syndromes, such as Williams-Beuren syndrome and the imprinting disorder Prader-Willi syndrome, with the goal of identifying the genes and mechanisms underlying the phenotypic characteristics of these neurobehavioral disorders.
Keywords: Microdeletions / neurogenetic disorders / mouse models / snoRNA / imprinting