Barbara R. Pober
Harvard University(US)Massachusetts General Hospital(US)
Publications by Year
Research Areas
Williams Syndrome Research, Congenital Diaphragmatic Hernia Studies, Congenital heart defects research, Nuclear Receptors and Signaling, Neonatal Respiratory Health Research
Most-Cited Works
- → Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes(2002)896 cited
- → Williams–Beuren Syndrome(2010)831 cited
- → PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome(1999)610 cited
- → A 1.5 million–base pair inversion polymorphism in families with Williams-Beuren syndrome(2001)348 cited
- → Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes(2007)315 cited
- → Multisystem study of 20 older adults with Williams syndrome(2004)247 cited