Dr Marshall’s current research focuses on the application of new sequencing technologies for identification of human genome variation and its relation to disease.

Specifically, he is interested in the discovery of genomic variation associated with neurodevelopmental disorders such as autism spectrum disorder (ASD), Schizophrenia, and Attention Deficit Hyperactivity Disorder.

As a principal investigator for SickKids Genome Clinic, Dr. Marshall is exploring the utility of whole genome sequencing in pediatric medicine and the translation of the technology into clinical diagnostics.