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Barbara R. Pober
Researcher at Harvard University
Publications - 115
Citations - 8270
Barbara R. Pober is an academic researcher from Harvard University. The author has contributed to research in topics: Williams syndrome & Congenital diaphragmatic hernia. The author has an hindex of 48, co-authored 112 publications receiving 7680 citations. Previous affiliations of Barbara R. Pober include Boston Children's Hospital & Yale University.
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Journal ArticleDOI
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.
Shinji Kondo,Brian C. Schutte,Rebecca J. Richardson,Bryan C. Bjork,Alexandra S. Knight,Yoriko Watanabe,Emma Howard,Renata Lúcia Leite Ferreira de Lima,Sandra Daack-Hirsch,Achim Sander,Donna M. McDonald-McGinn,Elaine H. Zackai,Edward J. Lammer,Arthur S. Aylsworth,Holly H. Ardinger,Andrew C. Lidral,Barbara R. Pober,Lina M. Moreno,Mauricio Arcos-Burgos,Consuelo Valencia,Claude Houdayer,Michel Bahuau,Danilo Moretti-Ferreira,Antonio Richieri-Costa,Michael J. Dixon,Jeffrey C. Murray +25 more
TL;DR: It is demonstrated that haploinsufficiency of IRF6 disrupts orofacial development and are consistent with dominant-negative mutations disturbing development of the skin and genitalia.
Journal ArticleDOI
Williams–Beuren Syndrome
TL;DR: This review covers current understanding of the biology of Williams–Beuren syndrome, a disorder of microdeletion or contiguous gene deletion, and its causes.
Journal ArticleDOI
PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome
Deborah J. Marsh,Deborah J. Marsh,Jennifer B. Kum,Jennifer B. Kum,Kathryn L. Lunetta,Michael J. Bennett,Robert J. Gorlin,S Faisal Ahmed,Joann Bodurtha,Carol A. Crowe,Mary Curtis,Majed Dasouki,Teresa M. Dunn,Howard Feit,Michael T. Geraghty,John M. Graham,Shirley Hodgson,Alasdair G. W. Hunter,Bruce R. Korf,David K. Manchester,Susan Miesfeldt,Victoria Murday,Katherine L. Nathanson,Melissa A. Parisi,Barbara R. Pober,Corrado Romano,John Tolmie,Richard C. Trembath,Robin M. Winter,Elaine H. Zackai,Roberto T. Zori,Liang Ping Weng,Liang Ping Weng,Patricia L. M. Dahia,Patricia L. M. Dahia,Charis Eng,Charis Eng +36 more
TL;DR: Constutive DNA samples from 43 BRR individuals comprising 16 sporadic and 27 familial cases, 11 of which were families with both CS and BRR, were screened for PTEN mutations, finding no significant difference in mutation status was found.
Journal ArticleDOI
A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.
Lucy R. Osborne,Martin Li,Barbara R. Pober,David Chitayat,Joann Bodurtha,Ariane Mandel,Teresa Costa,Theresa A. Grebe,Sarah R. Cox,Lap-Chee Tsui,Stephen W. Scherer +10 more
TL;DR: The use of interphase fluorescence in situ hybridization (FISH) and pulsed-field gel electrophoresis (PFGE) is reported to identify a genomic polymorphism in families with WBS, consisting of an inversion of the WBS region, suggesting the presence of a newly identified genomic variant within the population that may be associated with the disease.
Journal ArticleDOI
Mutations in LRP2 , which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes
Sibel Kantarci,Lihadh Al-Gazali,R. Sean Hill,R. Sean Hill,Dian Donnai,Graeme C.M. Black,Eric Bieth,Nicolas Chassaing,Didier Lacombe,Koenraad Devriendt,Ahmad S. Teebi,Maria Loscertales,Caroline D. Robson,Caroline D. Robson,Tianming Liu,Tianming Liu,David T. MacLaughlin,Kristin M. Noonan,Meaghan K. Russell,Christopher A. Walsh,Christopher A. Walsh,Christopher A. Walsh,Patricia K. Donahoe,Barbara R. Pober +23 more
TL;DR: This work mapped this disorder to chromosome 2q23.1 and identified LRP2 mutations in six families with Donnai-Barrow syndrome and one family with facio-oculo-acoustico-renal syndrome, implicating a pathway with potential pharmacological therapeutic targets.