Professor of Pediatrics, Massachusetts General Hospital

Medical Genetics

Barbara Pober is an expert in the field of Medical Genetics. She studied medicine at Yale University School of Medicine. Yale University School of Medicine is a top medical college. Yale University School of Medicine is ranked 7 in research and 57 in primary care medicine She received awards:"Boston Magazine" and "Top Doctors: New York Metro Area". Barbara Pober is a published MD. She published 31 publications, including: 'Skin findings in Williams syndrome.'

Publications

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• Skin findings in Williams syndrome.
• Prevalence and Penetrance of ZFPM2 Mutations and Deletions causing Congenital Diaphragmatic Hernia.
• Clinical utility gene card for: Williams-Beuren Syndrome [7q11.23].
• N-Acetylcysteine for Neuropsychiatric Symptoms in a Woman With Williams Syndrome.
• Williams Syndrome Predisposes to Vascular Stiffness Modified by Antihypertensive Use and Copy Number Changes in NCF1.
• Hearing from parents: The impact of receiving the diagnosis of Williams syndrome in their child.
• Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks.
• Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH.
• Deletions of Xp provide evidence for the role of holocytochrome C-type synthase (HCCS) in congenital diaphragmatic hernia.
• Pulmonary function and emphysema in Williams-Beuren syndrome.
• Williams-Beuren syndrome.
• Williams syndrome: a multidisciplinary approach to care.
• A review of Donnai-Barrow and facio-oculo-acoustico-renal (DB/FOAR) syndrome: clinical features and differential diagnosis.
• Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy.
• Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management.
• Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome.
• Diagnosis and management of medical problems in adults with Williams-Beuren syndrome.
• Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.
• Congenital diaphragmatic hernia and pulmonary hypoplasia: new insights from developmental biology and genetics.
• Congenital diaphragmatic hernia and associated cardiovascular malformations: type, frequency, and impact on management.
• Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH.
• Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia.
• Karyotype-phenotype insights from 11q14.1-q23.2 interstitial deletions: FZD4 haploinsufficiency and exudative vitreoretinopathy in a patient with a complex chromosome ...
• Cardiovascular malformations in Fryns syndrome: is there a pathogenic role for neural crest cells?
• Infants with Bochdalek diaphragmatic hernia: sibling precurrence and monozygotic twin discordance in a hospital-based malformation surveillance program.
• Fog2 is required for normal diaphragm and lung development in mice and humans.
• Multisystem study of 20 older adults with Williams syndrome.
• Fetal stroke.
• FOXC1 gene deletion is associated with eye anomalies in ring chromosome 6.
• Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.

Schools

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• Yale University School Of Medicine

• Massachusetts General Hospital

Doctors Specialties

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• Clinical Cytogenetics
• Clinical Genetics
• Pediatrics
• Medical Genetics

Accepted Insurances

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Awards

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• Boston Magazine
• Top Doctors: New York Metro Area

Education

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• Tufts Medical Center
• Yale University School of Medicine

Hospital

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• Brigham and Women's Hospital
• Massachusetts General Hospital

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