My research interests include genetic alterations in skin tumors and familial skin diseases, with the aim of identifying genes relevant for understanding cutaneous and tumor biology, improving diagnostic methods, and identifying novel therapeutic targets. An ongoing theme has been gene discovery. This includes the identification of FH mutations in hereditary leiomyomatosis and renal cell cancer (HLRCC) and PLCD1 mutations in hereditary white nail syndrome. Additionally, as a practicing dermatopathologist/dermatologist, my research aims at identification of markers of melanomagenesis to improve diagnostic accuracy of melanocytic tumors. This effort has resulted in the detection of NF1 mutations in desmoplastic melanoma.