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Office
14 Edgewood Dr
Greenville, SC 29605Phone+1 864-250-7944Fax+1 864-250-9582
Education & Training
- Case Western Reserve University/University Hospitals Cleveland Medical CenterResidency, Medical Genetics and Genomics, 1997 - 2000
- Cincinnati Children's Hospital Medical CenterResidency, Pediatrics, 1993 - 1996
- Emory University School of MedicineClass of 1993
Certifications & Licensure
- SC State Medical License 2000 - 2025
- OH State Medical License 1996 - 2001
- American Board of Pediatrics Pediatrics
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Publications & Presentations
PubMed
- 22 citationsThe intellectual disability-associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain-of-function.Martina Proietti Onori, Balwina Koopal, David B. Everman, Jessica D. Worthington, Julie R. Jones
Human Mutation. 2018-01-01 - 3 citationsMosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndrome.Jessica A Cooley Coleman, Timothy Fee, Renee Bend, Raymond Louie, Fran Annese
American Journal of Medical Genetics. Part A. 2022-10-01 - 161 citationsCoding exons function as tissue-specific enhancers of nearby genesRamon Y. Birnbaum, E. Josephine Clowney, Orly Agamy, Mee J. Kim, Jingjing Zhao
Genome Research. 2012-06-01
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