My research focus is on the identification of genetic factors that are responsible for human disorders with the goal of identifying biologic mechanisms and pathways underlying physiologic and developmental processes. I am interested in studying rare single gene disorders, using multiple approaches including homozygosity mapping in the context of consanguinity, as well as genome sequencing. Current projects include the identification of genes responsible for loose anagen hair syndrome, partial growth hormone deficiency and unexpected death in childhood. My laboratory is firmly committed to ethical, rigorous, and reproducible research.