My research focuses on the genetics of bone disorders. I have performed research in the role of mutations in the PHEX gene in hypophosphatemic rickets. My studies have sought to elucidate the genetic and environmental components of disorders of bone mineralization. I am particularly interested in the contribution of environmental factors to the low bone mass seen in individuals with neuromuscular diseases, such as muscular dystrophy. I am interested in the genetics of complex traits. As director of the Phenotype Core of the Program in Genomics, I have worked with researchers to develop clinical genetic research projects in diabetes, autism, congenital heart disease, and atopic dermatitis, and have my own project in the genetic contributions to congenital hip dysplasia.