About Barbara Pober, MD

Dr Pober received her BA from Yale University with a major in Psychology. She then completed her MD at the Yale School of Medicine and did Pediatrics Residency at Tufts-New England Medical Center in Boston, MA. Subsequently, she obtained an MPH from the Harvard School of Public Health which sparked her interest in the epidemiology of birth defects which, in turn, led to her training as a medical geneticist. She encountered several patients with Williams syndrome early after fellowship and found it so compelling to work with these individuals and their families that she started one of the 1st multidisciplinary clinics for Williams syndrome in 1987. She has been involved with the Williams syndrome community, providing care and performing clinical research, ever since.

Departments, Centers, & Programs:

Clinical Interests:



Mass General for Children: Genetics Program
55 Fruit St.
Yawkey Center for Outpatient Care
Suite 6C
Boston, MA 02114
Phone: 617-726-1561

Medical Education

  • MD, Yale University School of Medicine
  • Residency, Tufts Medical Center
  • Fellowship, Massachusetts General Hospital

American Board Certifications

  • Clinical Cytogenetics, American Board of Medical Genetics and Genomics
  • Clinical Genetics, American Board of Medical Genetics and Genomics
  • Pediatrics, American Board of Pediatrics

Accepted Insurance Plans

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Dr Pober's research focuses on the natural history of Williams syndrome. She has published more than 60 papers on various aspects of Williams syndrome including delineation of cardiovascular and anxiety phenotypes, metabolic problems such as diabetes, aspects of body composition, and bone mineral density. Her current research particularly seeks to understand why some, but not all, adults with Williams syndrome become overweight and why a subset develop the distinct phenotype referred to as lipedema. A variety of approaches including detailed clinical characterization of diet and eating behaviors and examination of genetic variation are underway.


  • Select Publications on Williams Syndrome since 2018

    Shaikh S+, Waxler JL+, Lee H, Grinke K, Garry J, Pober BR*, Stanley TL*. Glucose and Lipid Metabolism, Bone Density, and Body Composition in Individuals with Williams Syndrome. Clin Endocrinol (Oxf). 89(5):596-604; 2018. +co-1st authors; *co-senior authors

    Valdes F, Keary CJ, Mullett JE, Palumbo ML, Waxler JL, Pober BR, McDougle CJ. Brief Report: Major Depressive Disorder with Psychotic Features in Williams Syndrome: A Case Series. J Autism Dev Disord. 48(3):947-952; 2018.

    Yu E, Feinn R, Bona R, Brink B, Sindhar S, Kozel BA, Pober BR. Mild macrocytosis in Williams-Beuren syndrome. Eur J Med Genet. 63(3):103740; 2020.

    Thom RP, Keary CJ, Waxler JL, Pober BR, McDougle CJ. Buspirone for the Treatment of Generalized Anxiety Disorder in Williams Syndrome: A Case Series. J Autism Dev Disord. 50(2):676-682; 2020.

    Lugo M, Wong ZC, Billington CJ Jr, Parrish PCR, Muldoon G, Liu D, Pober BR, Kozel BA. Social, neurodevelopmental, endocrine, and head size differences associated with atypical deletions in Williams-Beuren syndrome. Am J Med Genet A 182(5):1008-1020; 2020.

    Gold NB, Nash KA, Perdomo J, Zheng DJ, Power-Hays A, Rainer T, Hisama F, Pober BR, Feinberg E. Delayed Diagnosis of Williams-Beuren Syndrome in an Adolescent of Jamaican Descent: Examining Racial Disparities in Genetics Education. Clinical Dysmorphology 30:69-70, 2021.

    Thom RP, Pober BR, McDougle CJ. Psychopharmacology of Williams Syndrome: Safety, Tolerability, and Effectiveness. Expert Opinion On Drug Safety 11:1-13 2021.

    Stanley TL, Leong A, and Pober BR. Growth, Body Composition, and Endocrine Issues in Williams Syndrome. Current Opinion in Endocrinology, Diabetes, and Obesity 28(1):64-74; 2021.

    Kozel BA, Barak B, Kim CA, Mervis CB, Osborne LR, Porter M, Pober BR. Williams syndrome. Nat Review Dis Primers. 17;7(1):42. 2021.

    Huston J, Thom RP, Ravichandran CT, Mullett JE, Moran C, Waxler J, Pober BR, McDougle CJ. Repetitive Thoughts and Repetitive Behaviors in Williams Syndrome. J Autism Dev Disord. 52(2):852-862; 2022.

    Thom RP, Balaj K, Keary CJ, Pober BR, McDougle. Functional Neurological Symptom Disorder in Williams Syndrome: Case Series and Review of the Literature. J Acad Consult Liaison Psychiatry. 63(2):170-179, 2022.

    Brink BD, Feinn R, Kozel BA, Billington CJ Jr, Liu D, Yu E, Sindhar S, He J, Rouse C, Lampert R, Pober BR*, Elder RW.* Frequency of QTc Interval Prolongation in Children and Adults with Williams syndrome. Pediatr Cardiol. 43(7):1559-1567; 2022. *co-senior authors

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