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
Exome sequencing in patients with microphthalmia, anophthalmia and coloboma (MAC) from a consanguineous population.
Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness.
Human molecular genetics
Announcing a new manuscript category for the American Journal of Medical Genetics Part A: Dispatches from Biotech.
American journal of medical genetics. Part A