Physician Investigator (Cl) Genetics Program, Mass General Research Institute

Assistant Professor of Pediatrics Harvard Medical School

Pediatrician Pediatrics, Massachusetts General Hospital

MD Oregon Health & Science University School of Medicine 2003

22q11.2 deletion syndrome; chromosome deletion; chromosome microdeletion; chromosome microduplication; chromosomes human; cytochrome-c oxidase deficiency; genetic conditions; genetic services; leigh disease; pair 22 Paula Goldenberg, MD, MSW, MSCE is a board-certified clinical geneticist and pediatrician with expertise in dysmorphology and 22q11.2 deletion syndrome (DiGeorge Syndrome, Velo-Cardio-Facial Syndrome).  She has participated in the international guideline committee and the development for health care management guidelines to better the health care for patients with 22q11.2 deletion of all ages, and has developed the New England Regional Center for 22q11 Deletion Syndrome, serving patients of all ages with this diagnosis. Dr. Goldenberg leads the only dedicated Stickler/Marshall Syndrome Clinic in the US in conjunction with Massachusetts Eye and Ear Infirmary, and is Director of Prenatal Genetics for Vincent Obstetrics.  Dr. Goldenberg also serves patients at the Lurie Center for Autism.