Her genetics research has contributed immensely to our understanding of the developmental process of X inactivation in human females and its role in sex differences in disease. She is the author of more than 100 research articles and two books: one, about X Inactivation in human females, entitled Females are Mosaics, and the other about her research career, entitled, American Science: My view from the bench. She was the founding director of the Hopkins PhD program in Human Genetics and Molecular Biology.