Michael Talkowski

Genomics of human disease. We are interested in the functional consequences of the complete spectrum of genomic variation on human disease, with a particular focus on congenital birth defects, autism, neurodevelopmental disorders, and diverse neuropsychiatric disorders. The lab has a structural variation group, a functional genomics group, and a team dedicated to translating genomics technologies for genetic diagnostic, primarily prenatal and neonatal diagnostic sequencing.