A graduate of Smith College and the University of Buffalo Medical School, she had postdoctoral training in pediatrics, endocrinology, genetics and cytogenetics, and was the founding director of the PhD Program in Human Genetics at Hopkins. Her research concerns the genetic regulation of the X chromosome, and its consequences for the health of both sexes. Her book, “Females are mosaics: X inactivation and sex differences in disease,” is published by Oxford University Press.