Dr. Krantz's lab identifies and characterizes the molecular etiology of syndromic and non-syndromic developmental disorders. He has identified genes for several genetic conditions (Cornelia de Lange Syndrome, CHOPS syndrome, Alagille syndrome, hearing loss) implicating critical molecular pathways in human disorders for the first time. He has been at the forefront of studying the integration of genomics into clinical settings.
Katherine Helbig’s research focuses on identifying new genetic causes of epilepsy and understanding how genetic variation leads to seizures. An additional research focus is improving access to genetic services for people with epilepsy and investigating the impact of genetics on health outcomes.