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Bio
She is a world expert on the deletion and duplication of a small but fascinating region of the genome, 7q11.23 on chromosome 7, which contains just 25 genes. The deletion of this region on one of the pairs of chromosome 7 leads to Williams-Beuren syndrome (WBS). WBS is a rare neurodevelopmental disorder that affects nearly every system in the body.
In addition to maintaining her active research program, Osborne remains involved in the IMS and her cross-appointed departments of Medicine and Molecular Genetics. She is an instructor in the popular IMS course titled ‘Molecular Medicine in Human Disease,’ a member of the IMS curriculum committee, and she recently participated in the IMS strategic planning initiative.
In addition to maintaining her active research program, Osborne remains involved in the IMS and her cross-appointed departments of Medicine and Molecular Genetics. She is an instructor in the popular IMS course titled ‘Molecular Medicine in Human Disease,’ a member of the IMS curriculum committee, and she recently participated in the IMS strategic planning initiative.
Research Interests
Papers共 131 篇Author StatisticsCo-AuthorSimilar Experts
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Journal of the American Heart Associationno. 3 (2024): e031377-e031377
Alejandro Lopez-Tobon,Reinald Shyti, Carlo Emanuele Villa,Cristina Cheroni,Patricio Fuentes-Bravo, Sebastiano Trattaro,Nicolò Caporale,Flavia Troglio, Erika Tenderini,Marija Mihailovich, Adrianos Skaros,William T. Gibson,
Science Advancesno. 48 (2022): eadh2726-eadh2726
D. Liu, C.J. Billington, N. Raja,Z.C. Wong,M.D. Levin, W. Resch, C. Alba,D.N. Hupalo, E. Biamino, M.F. Bedeschi,M.C. Digilio, G.M. Squeo,
medrxiv(2022)
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