Amanda J. DuBose

National Institutes of Health — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

9h-index447citations10works0.02yr avg
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Research Topics

Genetic Syndromes and Imprinting(6), Epigenetics and DNA Methylation(5), Prenatal Screening and Diagnostics(5), RNA Research and Splicing(3), Nuclear Structure and Function(3)

Publications10 total

Characterization of the craniofacial abnormalities of the homozygous G608G progeria mouse model
Frontiers in Physiology·2024Open Access
Evaluation of musculoskeletal phenotype of the G608G progeria mouse model with lonafarnib, pravastatin, and zoledronic acid as treatment groups
Proceedings of the National Academy of Sciences·2020· 28 citedOpen Access
Everolimus rescues multiple cellular defects in laminopathy-patient fibroblasts
Proceedings of the National Academy of Sciences·2018· 54 citedOpen Access
Use of microarray hybrid capture and next-generation sequencing to identify the anatomy of a transgene
Nucleic Acids Research·2013· 49 citedOpen Access
Temporal and developmental requirements for the Prader–Willi imprinting center
Proceedings of the National Academy of Sciences·2012· 14 citedOpen Access
A new deletion refines the boundaries of the murine Prader-Willi syndrome imprinting center
Human Molecular Genetics·2011· 38 citedOpen Access
Atp10a, a gene adjacent to the PWS/AS gene cluster, is not imprinted in mouse and is insensitive to the PWS-IC
Neurogenetics·2009· 44 cited
Imprinting regulates mammalian snoRNA-encoding chromatin decondensation and neuronal nucleolar size
Human Molecular Genetics·2009· 75 citedOpen Access
A human imprinting centre demonstrates conserved acquisition but diverged maintenance of imprinting in a mouse model for Angelman syndrome imprinting defects
Human Molecular Genetics·2005· 90 citedOpen Access
Evidence for genetic modifiers of postnatal lethality in PWS-IC deletion mice
Human Molecular Genetics·2004· 55 citedOpen Access

Frequent Co-authors

James L. Resnick(6), Karen A. Johnstone(5), Francis S. Collins(4), Michael R. Erdos(3), Emily Y. Smith(3), Camilynn I. Brannan(2), Stephen T. Lichtenstein(2), M. Belén Cubria(2), Pramod Kamalapathy(2), Wayne A. Cabral(2), Brian D. Snyder(2), Ara Nazarian(2), Christopher R. Futtner(1), Michael D. Elmore(1), Karen Leung(1), Roxanne O. Vallero(1), Janine M. LaSalle(1), Stormy J. Chamberlain(1), T Simon(1), Marisa S. Bartolomei(1)