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My research is focused on the diagnosis, discovery and delineation of rare genetic conditions with a focus of neurodevelopmental disorders. This work includes the application of novel computational methods and multi-omics profiling (whole genome sequencing, RNA sequencing, metabolomics). I additionally participate in an interdisciplinary project to develop induced pluripotent stem cell (iPSC) models of genetic neurodevelopmental disorders..
Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
The purpose of this study is to comprehensively characterize PMS using standardized medical,
cognitive, and behavioral measures and to track the natural history of the syndrome using
repeated longitudinal assessments. In addition, this study will be aiming to identify
biomarkers using neuroimaging, including diffusion tensor imaging and identify genetic
factors which contribute to diverse phenotypes in patients with PMS.
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