She is also a clinical geneticist at Seattle Children's Hospital in the Medical Genetics Clinic. Dr. Mefford has a research laboratory devoted to using genomic approaches to understand pediatric disease and discover novel genomic disorders. She has been involved in the discovery and characterization of several new genomic disorders, including rearrangements of chromosomes 1q21, 15q13, and 17q12, each of which confer risk for a range of clinical features including autism. In addition, her research group uses state-of-the-art technology to discover new copy number changes and mutations that underlie a variety of pediatric conditions, with a focus on epilepsy. Dr. Mefford's clinical interests parallel her research interests and include seeing patients with genomic disorders and patients with neurocognitive defects of unknown etiology.