Monica Basehore, PhD, FACMG
Lead Director, Molecular Diagnostic Laboratory
Associate Director Medical Genetics Training Program
Greenwood Genetic Center
Board-certified by the American Board of Medical Genetics
Ph.D., Molecular Medicine and Translational Science Graduate
Program, May 2005
Wake Forest University Graduate School of Arts
B.S., Biochemistry, 2000
Virginia Tech, Blacksburg, VA
Advisor: Timothy D. Howard, PhD
The Molecular Diagnostic Laboratory specializes in the diagnosis of mental retardation, muscular dystrophies, skeletal dysplasias, and many other genetic conditions. My primary responsibilities include the daily interpretation of molecular test results, development and implementation of new molecular diagnostic assays, and involvement in various clinical research projects throughout the GGC.
Worthey EA, Mayer AN, Syverson GD, Helbling D, Bonacci BB, Decker B, Serpe JM, Dasu T, Tschannen MR, Veith RL, Basehore MJ, Broeckel U, Tomita-Mitchell A, Arca MJ, Casper JT, Margolis DA, Bick DP, Hessner MJ, Routes JM, Verbsky JW, Jacob HJ, Dimmock DP. Making a Definitive Diagnosis: Successful clinical application of whole exome sequencing in a child with intractable imflammatory bowel disease. Genetics in Medicine 2010 [Epub ahead of print].
Champion KJ, Basehore MJ, Wood T, Destrée A, Vannuffel P, Maystadt I. Identification and characterization of a novel homozygous deletion in the alpha-N-acetylglucosaminidase gene in a patient with Sanfilippo type B syndrome (mucopolysaccharidosis IIIB). Molecular Genetics and Metabolism 2010; 100(1):51-6.
MJ Basehore and MJ Friez. Molecular Analysis of Fragile X Syndrome. Current Protocols in Human Genetics 2009; Chapter 9: Unit 9.5.
H Tang, MJ Basehore, GL Blakey, S Darilek, JS Oghalai, BB Roa, P Fang, RL Alford. Infrequency of two deletion mutations at the DFNB1 locus in patients and controls. American Journal of Medical Genetics A 2008; 146(7):934-936.
Shashi V, Keshavan MS, Howard TD, Berry MN, Basehore MJ, Lewandowski E, Kwapil TR. Cognitive correlates of a functional COMT polymorphism in children with 22q11.2 deletion syndrome. Clinical Genetics 2006; 69(3):234-8.
Howard TD, Giles WH, Xu J, Wozniak MA, Malarcher AM, Lange LA, Macko RF, Basehore MJ, Meyers DA, Cole JW, Kittner SJ. Promoter polymorphisms in the nitric oxide synthase 3 gene are associated with ischemic stroke susceptibility in young black women. Stroke 2005; 36(9):1848-1851.
Basehore MJ, Howard TD, Lange LA, Moore WC, Hawkins GA, Marshik PL, Harkins MS, Meyers DA, and Bleecker ER. A comprehensive evaluation of IL4 variants in ethnically diverse populations: Association of total serum IgE levels and asthma in white subjects. Journal of Allergy and Clinical Immunology 2004; 114(1): 80-87.
For a listing of additional publications, refer to PubMed, a service provided by the National Library of Medicine.
2007 Board Certified American Board of Genetics