Departments, Centers, & Programs:
MassGeneral Hospital for Children: Genetics Program
55 Fruit St.
Yawkey Center for Outpatient Care
Boston, MA 02114
- MD, Yale University School of Medicine
- Residency, Tufts Medical Center
- Fellowship, Massachusetts General Hospital
American Board Certifications
- Clinical Cytogenetic, American Board of Medical Genetics and Genomics
- Clinical Genetics (M.D.), American Board of Medical Genetics and Genomics
- Pediatrics, American Board of Pediatrics
Accepted Insurance Plans
Note: This provider may accept more insurance plans than shown; please call the practice to find out if your plan is accepted.
Dr Pober's research focuses on the natural history of Williams syndrome. She particularly seeks to understand why some, but not all, persons with Williams syndrome become overweight and why a subset develop the distinct phenotype referred to as lipedema. Likewise, she studies why only some individuals with Williams syndrome develop decreased bone density or diabetes. A variety of approaches including detailed clinical characterization and examination of genetic variation are underway.
Select Publications on Williams Syndrome since 2014
- A new diagnosis of Williams-Beuren syndrome in a 49-year-old man with severe emphysema. Wojcik MH, Carmichael N, Biebrt FR, Weiner DC, Madan DC, Pober BR, Raby BA. Am J Med Genet A. 2017 173:1159-1171.
- Altered body composition, lipedema and decreased bone density in individuals with Williams syndrome: A preliminary report. Waxler JL, Guardino C, Feinn RS, Lee H, Pober BR, Stanley TL. Eur J Med Genet. 2017 60:250256.
- Hypercalcemia in Patients with Williams syndrome. Sindhar S, Lugo M, Levin MD, Danback JR, Brink BD, Yu E, Dietzen DJ, Clark AL, Purgert CA, Waxler JL, Elder RW, Pober BR, Kozel BA. J Pediatr. 2016 178:254-260.
- Attention Bias to Emotional Faces Varies by IQ and Anxiety in Williams syndrome. McGrath LM, Oates JM, Dai YG, Dodd HF, Waxler J, Clements CC, Weil S, Hoffnagle A, Anderson E, MacRae R, Mullett J, McDougle CJ, Pober BR, Smoller JW. J Autism Dev Disord. 2016 46:2174-85.
- Skin Findings in Williams syndrome. Kozel BA, Bayliss SJ, Berk DR, Waxler JL, Knutsen RH, Danback JR, Pober BR. Am J Med Genet A. 2014 164A:2217-25.