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Phelan-McDermid Syndrome Data Network (PMS_DN) - Phase I

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PCORI - PPRN Co-PI ($624K) Total $950K (PI: Megan O'Boyle) To collect all available patient data from Phelan-McDermid Syndrome (PMS) patients to make meaningful, well-annotated clinical data available to researchers and to share insights with members of...

Autism Pilot

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BCH internally-funded Gene partnership / Research Connection Co-Investigator ($800k) (PI: Isaac Kohane) Creating a comprehensive autism clinical and genomic database using an i2b2-based research platform: tranSMART