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Paula C. Goldenberg, MD

Clinical Director, Medical Genetics

Director, New England Regional 22q11.2 Deletion Syndrome Clinic

Director, Prenatal Genetics, Vincent Obstetrics and Stickler/Marshall Syndrome Clinic

  • Phone: 617-726-1561
Department of Pediatrics


  • MassGeneral Hospital for Children
  • Genetics
Clinical Interests
22q11.2 Deletion Syndrome
DiGeorge Syndrome
Velo-Cardio-Facial Syndrome (VCFS)
Prenatal Testing and Diagnosis
Stickler/Marshall Syndrome
Boston: Massachusetts General Hospital
Lexington: Lurie Center for Autism
Medical Education
MD, Oregon Health & Science University School of Medicine
Residency, Duke University Medical Center
Fellowship, Children's Hospital of Philadelphia
Board Certifications
Clinical Genetics (M.D.), American Board of Medical Genetics
Pediatrics, American Board of Pediatrics
Patient Gateway
Yes, learn more
Patient Age Group
Adult and pediatric
Accepting New Patients
Accepting New Patients

BiographyPaula 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.


View my most recent publications at PubMed

Practical guidelines for managing patients with 22q11.2 deletion syndrome.
Bassett AS, McDonald-McGinn DM, Devriendt K, Digilio MC, Goldenberg P, Habel A, Marino B, Oskarsdottir S, Philip N, Sullivan K, Swillen A, Vorstman J; International 22q11.2 Deletion Syndrome Consortium.
J Pediatr. 2011 Aug;159(2):332-9.

Computerized neurocognitive profile in young people with 22q11.2 deletion syndrome compared to youths with schizophrenia and at-risk for psychosis.
Goldenberg PC, Calkins ME, Richard J, McDonald-McGinn D, Zackai E, Mitra N, Emanuel B, Devoto M, Borgmann-Winter K, Kohler C, Conroy CG, Gur RC, Gur RE.
Am J Med Genet B Neuropsychiatr Genet. 2012 Jan;159B(1):87-93. doi: 10.1002/ajmg.b.32005. Epub 2011 Dec 13.

Pediatric Genetics
55 Fruit Street
Boston, MA 02114-2696

Phone: 617-726-1561
Fax: 617-726-1566

Pediatric Genetics
55 Fruit Street
Boston, MA 02114-2696

Phone: 617-726-1561
Fax: 617-726-1566


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