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Five years of experience in the Epigenetics and Chromatin Clinic : what have we learned and where do we go from here?

Harris, Jacqueline R.; Gao, Christine W.; Britton, Jacquelyn F.; Applegate, Carolyn D.; Björnsson, Hans Tómas; Fahrner, Jill A. (2023-03-23)

The multidisciplinary Epigenetics and Chromatin Clinic at Johns Hopkins provides comprehensive medical care for individuals with rare disorders that involve disrupted epigenetics. Initially centered on classical imprinting disorders, the focus shifted ...
A mouse model of Weaver syndrome displays overgrowth and excess osteogenesis reversible with KDM6A/6B inhibition

Gao, Christine W.; Lin, Wan Ying; Riddle, Ryan C.; Kushwaha, Priyanka; Boukas, Leandros; Björnsson, Hans Tómas; Hansen, Kasper D.; Fahrner, Jill A. (2024-01-09)

Weaver syndrome is a Mendelian disorder of the epigenetic machinery (MDEM) caused by germline pathogenic variants in EZH2, which encodes the predominant H3K27 methyltransferase and key enzymatic component of Polycomb repressive complex 2 (PRC2). Weaver ...

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