Identification of genetic contributions to normal variation and diseases of the nervous system through study of families with these disorders is shedding new light on the normal function of the human brain and the pathology of many human neurological diseases. Bridging the gap from bedside to bench will allow new opportunities for translating basic knowledge to better treatments for patients.

• Cell Metabolism 2013
• Cell 2007
• JCI 2013
• Science Translational Medicine 2013
• Cell Reports 2017