Andrea Porter, MD
Clinical Associate Professor of Pediatrics-Developmental and Behavioral Pediatrics
Biography
I conducted chart reviews of patients I saw in Neurodevelopmental Clinic at CDD from 2011-2018. The purpose was to compare phenotypes (physical, behavioral, and developmental) to variants of unknown clinical significance, and evaluate whether this information could be useful to the research community in re-classification of variants. The project also took a different direction, one of building an institutional registry of clinically characterized VUSs. It is relevant to IDD because the patients who are evaluated with CMAs in our clinic have global developmental delay or intellectual disability.