Joann Bodurtha

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

Mentorship Is Not Enough: Exploring Sponsorship and Its Role in Career Advancement in Academic Medicine

Manasa S. Ayyala, Kimberly A. Skarupski, Joann Bodurtha et al. · Academic Medicine · 2018 · 275 citations

Management, Higher Education, Leadership +13

The 2019 US medical genetics workforce: a focus on clinical genetics

Brittany D. Jenkins, Catherine G. Fischer, Curt A. Polito et al. · Genetics in Medicine · 2021 · 170 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

Subcortical Band Heterotopia in Rare Affected Males Can be Caused by Missense Mutations in DCX (XLIS) or LIS1

Daniela T. Pilz, J. Kuć, Naomichi Matsumoto et al. · Human Molecular Genetics · 1999 · 142 citations · Full text

Medicine, Genetics, Molecular Genetics +17