Short Bio

My laboratory studies genomic abnormalities as the cause of human diseases. We use genomic microarrays to detect tiny chromosomal microdeletions and microduplications in patients with intellectual disability, autism or reproductive disorders. Most recently, we started using next generation sequencing to identify even smaller abnormalities in the DNA from our patients. Our current interest includes finding the functional consequences of gene copy number or sequence changes in patient cells and in animal models (e.g. zebrafish or C.elegans). Our ultimate goal is to understand better the connection between the phenotypic abnormalities in our patients and the defects in their genes.