BarbaraRosePoberMD

Medical Genetics • Boston, MA

Clinical Cytogenetics, Clinical Genetics

Professor of Pediatrics, Massachusetts General Hospital

Join to view full profile

Dr. Pober is on Doximity

As a Doximity member you'll join over two million verified healthcare professionals in a private, secure network.

Connect with other colleagues in the same hospital or clinic
Search all U.S. specialist profiles and refer a patient
Read the latest clinical news and earn CME/CEU credits

See Dr. Pober's full profile

Already have an account?

Office
185 Cambridge St, Rm 222
Partners Center For Human Genetics
Boston, MA 02114
Phone+1 617-726-1561

Fax+1 617-726-1566
Is this information wrong?

Education & Training

Tufts Medical CenterResidency, Pediatrics, 1978 - 1981
Yale School of MedicineClass of 1978

Certifications & Licensure

MA State Medical License 1985 - 2026
NH State Medical License 2021 - 2025
CT State Medical License 1991 - 2025
RI State Medical License 2021 - 2024
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
Completed
Williams Syndrome Strength, Hormones, Activity & Adiposity, DNA Programming, Eating Study Start of enrollment: 2018 Oct 01
Completed

Publications & Presentations

PubMed

1 citations
Functional Neurological Symptom Disorder in Williams Syndrome: Case series and Review of Relevant Literature
Robyn P. Thom, Kayla Balaj, Christopher J. Keary, Barbara R. Pober, Christopher J. McDougle> ;Journal of the Academy of Consultation-Liaison Psychiatry. 2021 Oct 5
70 citations
Williams syndrome.
Beth A Kozel, Boaz Barak, Chong Ae Kim, Carolyn B Mervis, Lucy R Osborne, Melanie Porter, Barbara R Pober> ;Nature Reviews. Disease Primers. 2021 Jun 17
6 citations
Repetitive Thoughts and Repetitive Behaviors in Williams Syndrome
John C. Huston, Robyn P. Thom, Caitlin Ravichandran, Jennifer E Mullett, Carly Moran, Jessica L. Waxler, Barbara R. Pober, Christopher J. McDougle> ;Journal of Autism and Developmental Disorders. 2021 Apr 10
14 citations
Growth, body composition, and endocrine issues in Williams syndrome.
Takara L. Stanley, Aaron Leong, Barbara R. Pober> ;Current Opinion in Endocrinology, Diabetes, and Obesity. 2021 Feb 1
7 citations
Psychopharmacology of Williams syndrome: safety, tolerability, and effectiveness.
Robyn P. Thom, Barbara R. Pober, Christopher J. McDougle> ;Expert Opinion on Drug Safety. 2021 Jan 11
2 citations
Delayed diagnosis of Williams-Beuren syndrome in an adolescent of Jamaican descent: examining racial disparities in genetics education.
Nina B. Gold, Katherine A. Nash, Joanna Perdomo, Daniel J Zheng, Alexandra Power-Hays, Tyler Rainer, Fuki M. Hisama, Barbara R. Pober, Emily Feinberg> ;Clinical Dysmorphology. 2021 Jan 1
11 citations
Social, neurodevelopmental, endocrine, and head size differences associated with atypical deletions in Williams-Beuren syndrome.
Michael Lugo, Zoë C. Wong, Charles J. Billington, Phoebe C. R. Parrish, Glennis Muldoon, Delong Liu, Barbara R. Pober, Beth A. Kozel> ;American Journal of Medical Genetics. Part A. 2020 Feb 20
5 citations
Buspirone for the Treatment of Generalized Anxiety Disorder in Williams Syndrome: A Case Series.
Robyn P. Thom, Christopher J. Keary, Jessica L. Waxler, Barbara R. Pober, Christopher J. McDougle> ;Journal of Autism and Developmental Disorders. 2020 Feb 1
5 citations
Mild macrocytosis in Williams-Beuren syndrome.
Eric Yu, Richard Feinn, Robert Bona, Benjamin D. Brink, Sampat Sindhar, Beth A. Kozel, Barbara R. Pober> ;European Journal of Medical Genetics. 2020 Mar 1
8 citations
Glucose and lipid metabolism, bone density, and body composition in individuals with Williams syndrome.
Sofia D Shaikh, Jessica L. Waxler, Hang Lee, Kathy Grinke, Jamie Garry, Barbara R. Pober, Takara L. Stanley> ;Clinical Endocrinology. 2018 Nov 1
8 citations
Hypercalciuria and nephrolithiasis: Expanding the renal phenotype of Donnai-Barrow syndrome.
Franca Anglani, Liliana Terrin, M. Brugnara, M. Battista, Vincenzo Cantaluppi, Monica Ceol, Loris Bertoldi, Giorgio Valle, M. P. Joy, Barbara R. Pober, Mauro Longoni> ;Clinical Genetics. 2018 Mar 13
4 citations
Brief Report: Major Depressive Disorder with Psychotic Features in Williams Syndrome: A Case Series.
Francisca Lange Valdés, Christopher J. Keary, Jennifer E Mullett, Michelle L. Palumbo, Jessica L. Waxler, Barbara R. Pober, Christopher J. McDougle> ;Journal of Autism and Developmental Disorders. 2018 Mar 1
Cover Image, Volume 173A, Number 8, August 2017.
Wojcik, M. H., Carmichael, N., Bieber, F. R., Wiener, D. C., Madan, R., Pober, B. R., Raby, B. A.> ;American journal of medical genetics. Part A. 2017 Jul 14
6 citations
A new diagnosis of Williams–Beuren syndrome in a 49-year-old man with severe bullous emphysema
Monica H. Wojcik, Nikkola Carmichael, Frederick R. Bieber, Daniel C. Wiener, Rachna Madan, Barbara R. Pober, Benjamin A. Raby> ;American Journal of Medical Genetics. Part A. 2017 Jun 2
10 citations
The proceedings of the 15th professional conference on Williams Syndrome.
Jennifer Walton, Marilee A. Martens, Barbara R. Pober> ;American Journal of Medical Genetics. Part A. 2017 May 1
12 citations
Altered body composition, lipedema, and decreased bone density in individuals with Williams syndrome: A preliminary report.
Jessica L. Waxler, Cara Guardino, Richard Feinn, Hang Lee, Barbara R. Pober, Takara L. Stanley> ;European Journal of Medical Genetics. 2017 Feb 27
29 citations
Hypercalcemia in Patients with Williams-Beuren Syndrome.
Sampat Sindhar, Michael Lugo, Mark D. Levin, Joshua R. Danback, Benjamin D. Brink, Eric Yu, Dennis J. Dietzen, Amy L. Clark, Carolyn A. Purgert, Jessica L. Waxler, Rob...> ;The Journal of Pediatrics. 2016 Nov 1
8 citations
Description of common musculoskeletal findings in Williams Syndrome and implications for therapies
Lynn E. Copes, Barbara R. Pober, C. A. Terilli> ;Clinical Anatomy. 2016 Jul 1
14 citations
Attention Bias to Emotional Faces Varies by IQ and Anxiety in Williams Syndrome.
Lauren M. McGrath, Joyce M. Oates, Yael G. Dai, Helen F. Dodd, Jessica L. Waxler, Caitlin C. Clements, Sydney Weill, Alison G. Hoffnagle, Erin M. Anderson, Rebecca Mac...> ;Journal of Autism and Developmental Disorders. 2016 Feb 17
39 citations
Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia
Mauro Longoni, Meaghan K. Russell, Frances A. High, Katayoon Darvishi, Faouzi I. Maalouf, Alireza Kashani, Adam Tracy, Caroline Coletti, Maria Loscertales, Kasper Lage...> ;Clinical Genetics. 2015 Apr 1
11 citations
Skin Findings in Williams Syndrome
Beth A. Kozel, Susan J. Bayliss, David R. Berk, Jessica L. Waxler, Russell H. Knutsen, Joshua R. Danback, Barbara R. Pober> ;American Journal of Medical Genetics. Part A. 2014 Sep 1
44 citations
Molecular pathogenesis of congenital diaphragmatic hernia revealed by exome sequencing, developmental data, and bioinformatics
Mauro Longoni, Frances A. High, Meaghan K. Russell, Alireza Kashani, Adam Tracy, Caroline Coletti, Regis Hila, Ahmed Shamia, Julie Wells, Kate G. Ackerman, Jay M. Wils...> ;Proceedings of the National Academy of Sciences of the United States of America. 2014 Aug 26
10 citations
Clinical utility gene card for: Williams-Beuren Syndrome [7q11.23].
Udo Koehler, Brigitte Pabst, Barbara R. Pober, Beth A. Kozel> ;European Journal of Human Genetics. 2014 Sep 1
4 citations
N-Acetylcysteine for Neuropsychiatric Symptoms in a Woman With Williams Syndrome:
Mildred Lopez Pineiro, Antoinette M. Roberts, Jessica L. Waxler, Jennifer E Mullett, Barbara R. Pober, Christopher J. McDougle> ;Journal of Child Neurology. 2014 Jan 5
53 citations
Williams Syndrome Predisposes to Vascular Stiffness Modified by Antihypertensive Use and Copy Number Changes in NCF1
Beth A. Kozel, Joshua R. Danback, Jessica L. Waxler, Russell H. Knutsen, Lisa de las Fuentes, György Reusz, Eva Kis, Ami B. Bhatt, Barbara R. Pober> ;Hypertension. 2014 Jan 1
Join now to see all

Journal Articles

Glucose and Lipid Metabolism, Bone Density, and Body Composition in Individuals with Williams Syndrome
Jessica 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

Hospital Affiliations

Massachusetts General HospitalBoston, Massachusetts