Leads a research group at Boston Children’s Hospital and Broad Institute of MIT and Harvard and co-directs the Center for Mendelian Genomics at the Broad Institute
Co-directs the Kleefstra syndrome and EpiChroma clinics at Boston Children’s Hospital
Has leadership roles in many national and international efforts in rare disease research including the GREGoR consortium, the gnomAD consortium, the NeuroDev project, AnVIL, CAGI, and the Syndromic Disorders GCEP in ClinGen
Research has contributed to >70 publications and been recognized by the David W. Smith Peter Duncan Award, HMS Hearst Fellowship, and Bowes Award