BarbaraRosePoberMD
Medical Genetics • Boston, MAClinical Cytogenetics, Clinical Genetics
Professor of Pediatrics, Massachusetts General Hospital
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Office
185 Cambridge St, Rm 222
Partners Center For Human Genetics
Boston, MA 02114Phone+1 617-726-1561Fax+1 617-726-1566
Education & Training
Tufts Medical CenterResidency, Pediatrics, 1978 - 1981
Yale School of MedicineClass of 1978
Certifications & Licensure
MA State Medical License 1985 - 2026
RI State Medical License 2021 - 2026
CT State Medical License 1991 - 2025
NH State Medical License 2021 - 2025- American Board of Medical Genetics and Genomics Clinical Cytogenetics
- American Board of Medical Genetics and Genomics Clinical Genetics
- American Board of Pediatrics Pediatrics
Awards, Honors, & Recognition
- Boston Magazine Castle Connolly, 2009-2013
- Top Doctors: New York Metro Area Castle Connolly, 2003-2004
Clinical Trials
- Metabolic Screening in Patients With Donnai-Barrow Syndrome Start of enrollment: 2010 Mar 01
- Williams Syndrome Strength, Hormones, Activity & Adiposity, DNA Programming, Eating Study Start of enrollment: 2018 Oct 01
Publications & Presentations
PubMed
- 93 citationsNovel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy.Charlotte A. Brown, Robert W. Lanning, Kimberly Q. McKinney, Ann R. Salvino, Elizabeth M. Cherniske
American Journal of Medical Genetics. 2001-09-01 - 41 citationsPrevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic herniaMauro Longoni, Meaghan K. Russell, Frances A. High, Katayoon Darvishi, Faouzi I. Maalouf
Clinical Genetics. 2015-04-01 - 73 citationsCongenital diaphragmatic hernia candidate genes derived from embryonic transcriptomesMeaghan K. Russell, Mauro Longoni, Julie Wells, Faouzi I. Maalouf, Adam Tracy
Proceedings of the National Academy of Sciences of the United States of America. 2012-02-21
Journal Articles
- Glucose and Lipid Metabolism, Bone Density, and Body Composition in Individuals with Williams SyndromeJessica L Waxler, Barbara R Pober, Takara L Stanley, Clinical Endocrinology
Press Mentions
Parents Can Now Test Kids for Risk of Adult ConditionsFebruary 12th, 2016
Grant Support
- Quality Of Life Of Adolescents And Adults With Mild Intellectual HandicapsNational Center For Research Resources2000–2002
- Quality Of Life Of Mildly Intellectually Handicapped PeopleNational Center For Research Resources1998–1999
- Anticonvulsant Epilepsy TeratogenicityNational Institute Of Neurological Disorders And Stroke1985–1986
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