Amber H. Begtrup, PhD

Assistant Director, Molecular Genetics Laboratory

Assistant Professor, UC Department of Pediatrics

Phone 513-803-3837

Email amber.begtrup@cchmc.org

Amber Hogart Begtrup received her PhD in genetics with a focus in human genetics from the University of California, Davis in 2003. During her PhD she conducted research to identify underlying molecular etiologies of autism through molecular genetic investigation of human chromosome 15q11-13. In 2003, Dr. Begtrup transitioned to the National Institutes of Health, where she simultaneously performed post-doctoral research in the realm of epigenomics and hematopoietic development and trained in clinical molecular genetics.

While at the NIH, Dr. Begtrup was funded through the Pharmacology Research Associate Training Program sponsored by the National Institute of General Medical Sciences. During her training, Dr. Begtrup developed interests in bone marrow failure disorders as well as the application of next generation sequencing technologies to clinical genetics.

PhD: University of California, Davis.

Fellowship: Genetics, National Institutes of Health/National Human Genome Research Institute, Bethesda, MD.

Certification: Clinical Molecular Genetics, 2011.

Hogart A, Lichtenberg J, Ajay SS, Anderson SM, NIH Intramural Sequencing Center, Margulies EH, Bodine DM. Genome-Wide DNA Methylation Profiles in Hematopoietic Stem and Progenitor Cells Reveal Over-Representation of ETS Transcription Factor Binding Sites. Genome Res. 2012.

Hogart A, Wu DJ, LaSalle JM, Schanen NC. The comorbidity of autism with the genomic disorders of chromosome 15q11.2-13. NeurobiolDisease. 2010;38(2):181-191.

Hogart A, Leung KN, Wang NJ, Wu DJ, Driscoll J, Vallero RO, Schanen NC, LaSalle JM. Chromosome 15q11-13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number. J Med Genet. 2009;46(2)86-93.

Hogart A, LaSalle JM. Epigenetic dysregulation of 15q11-13 GABAA receptors in autism. The Neurochemical Basis of Autism: Molecules to Minicolumns. Springer. 2009.

Hogart A, Patzel KA, LaSalle JM. Gender influences monoallelic expression of ATP10A in human brain. Hum Genet. 2008;124(3)235-42.

Yasui DH, Peddada S, Bieda MC, Vallero RO, Hogart A, Nagarajan RP, Thatcher KN, Farnham PJ, LaSalle JM. Integrated epigenomic analyses of neuronal MeCP2 reveal a role for long-range interaction with active genes. PNAS. 2007;104(49):19416-21.

Hogart A, Nagarajan RP, Patzel KA, Yasui DH, LaSalle JM. 15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders. Hum Mol Genet. 2007;16(6):691-703.

Nagarajan RP, Hogart A, Gwye Y, Martin MR, LaSalle JM. Reduced MeCP2 Expression is Frequent in Autism Frontal Cortex and Correlates with Aberrant MECP2 Promoter Methylation. Epigenetics. 2006;1(4):172-182.

LaSalle JM, Hogart A, Thatcher KN. Rett Syndrome: A Rosetta Stone Approach to Understanding Autism. Int Rev Neurobiol. 2005;71:131-165.

Samaco RC, Hogart A, LaSalle JM. Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3. Hum Mol Genet. 2005;14(4):483-92.