I love love love this Doctor for Genetics in Pediatrics. She is compassionate and straight to the chase about what is going on. She listens to my concerns and is able to validate them even if they aren't something we should be concerned with. I appreciate the facility and she is a great doctor to have on our team trying to figure out what's going on with my little girl
A dyadic approach to the delineation of diagnostic entities in clinical genomics.
American journal of human genetics
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Genetics in medicine : official journal of the American College of Medical Genetics
Genetic Testing Leading to Early Identification of Childhood Ocular Manifestations of Usher Syndrome.