Starting with the discovery of recurrent deletions as risk factors for epilepsy, her research helped define the genetic landscape of various types of epilepsy. She has led or contributed to >25 novel gene discoveries in the developmental and epileptic encephalopathies, transforming clinical genetic diagnosis for affected children.
Now, using engineered and patient-derived cells, her group develops cellular models of genetic epilepsies for characterization and testing potential targeted therapies. She is a scientific advisor for several patient advocacy groups, has served on numerous AES and ILAE committees, currently co-chairs the ClinGen Epilepsy Gene & Variant Curation Working Groups, was co-PI for the Epi4K Consortium, and is Secretary of the Board for the American Society of Human Genetics.