Her laboratory was the first to identify the genes (BAP1 and SF3B1) leading to tumor formation and metastasis of uveal melanoma. She also identified the first gene mutated in a familial form of psoriasis and psoriatic arthritis (CARD14) and determined the functional consequences of its psoriasis causing mutations. Her other research achievements include demonstrating the use of DNA markers in reconstructing human evolution, identifying proteins interacting with the early onset breast cancer gene BRCA1. She continues to work on the genetics and genomics of cancer and skin diseases including psoriasis and keloid formation.

Dr. Bowcock has received numerous awards in recognition of her research, including a Psoriasis Achievement Award from the American Skin Association. She is the inventor of two patents and has published more than 240 scientific papers, books, and book chapters.