University of Otago geneticist Stephen Robertson's primary research interest lies in the underlying causes of congenital malformations, especially in relation to a family of rare genetic conditions affecting the formation of the skeleton, face and limbs. While he was investigating a particular gene on the X-chromosome which causes a rare bone-formation disorder, he made the surprising discovery that this genetic mutation was linked to a childhood kidney cancer called Wilms Tumour.
Previously, Stephen Robertson discovered a family of genes called filamins and the role they play in a suite of genetic disorders. This work began with a study of one such condition which affected a large North Island family. It was the subject of a television documentary called Lifting of the Makutu.