Barbara R. Pober

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

Shinji Kondo, Brian C. Schutte, Rebecca J. Richardson et al. · Nature Genetics · 2002 · 901 citations · Full text

Life Sciences, Genetics, Molecular Genetics +5

Williams–Beuren Syndrome

Barbara R. Pober · New England Journal of Medicine · 2010 · 842 citations

Life Sciences, Genetics, Molecular Genetics +17

PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome

Deborah J. Marsh, Jennifer B. Kum, Kathryn L. Lunetta et al. · Human Molecular Genetics · 1999 · 613 citations

Medicine, Molecular Genetics, Oncology +17

A 1.5 million–base pair inversion polymorphism in families with Williams-Beuren syndrome

Lucy R. Osborne, Martin Li, Barbara R. Pober et al. · Nature Genetics · 2001 · 350 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

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 et al. · Nature Genetics · 2007 · 319 citations · Full text

Medicine, Genetics, Molecular Genetics +6