mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion

Jeffrey Calhoun

Carvill laboratory, Northwestern University

Presentation Date: 2 August 2022

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Jeff received a PhD in Cellular and Molecular Biology at the University of Michigan in 2013 under the mentorship of Dr. Lori Isom. For his postdoctoral training, he studied the genetics of epilepsy in mice and humans in the laboratories of Dr. Jennifer Kearney and Dr. Gemma Carvill. His research interests focus on improving the genetic diagnosis of epilepsy through genome sequencing, machine learning, and functional characterization of variants of uncertain significance.

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