I am a physician-scientist with research focused on the application of genomics to neonatal care, the determination of the genetic and molecular basis of various orphan diseases, and a special focus on congenital myopathies. I moved to the University of Miami/Jackson Health System as Division Chief and Professor in Feb 2023 from Boston Children's Hospital (BCH) after 23 years there. I continue to work with BCH as a Visiting Scientist and Visiting Professor of Pediatrics at Harvard Medical School. I was the Medical Director of the Manton Center Gene Discovery Core (GDC) at BCH focused on determining the genetic basis of various rare diseases and Director of the Neonatal Genomics Program within the Division of Newborn Medicine. I have been an Associate Member of the Broad Institute of Harvard & MIT, an institute that brings together researchers from various disciplines at Harvard and MIT to accelerate genomic discoveries and conquer diseases. I have published 160+ original articles in several high-impact journals, including the New England Journal of Medicine, Nature Communications, and JCI, to name a few. I have been funded by various local sources, foundations, and NIH grants, including R01, U19, and UM1 grants. I have pioneered the identification of many novel genes, developed novel genomic approaches in newborn care, and advanced the career of several fellows and junior faculty to obtain NIH funding. I am an Investigator for the Undiagnosed Disease Network (UDN) at Harvard Medical School and the Center for Mendelian Genomics (CMG) at Broad Institute, which are NIH-funded collaborative projects. I have mentored several fellows and junior faculty members who have successfully built their research careers by starting their own laboratories and getting mentored and independent awards from the NIH. I have taught several courses, including at BCH, MIT's Business School, and Northeastern University.