Monica J. Basehore, PhD

Associate Director – Molecular Diagnostic Laboratory

Dr. Basehore came to the Greenwood Genetic Center in 2008 and is currently the Associate Director of the Molecular Diagnostic Laboratory. The Molecular Diagnostic Laboratory specializes in the diagnosis of intellectual disabilities, muscular dystrophies, skeletal dysplasias, and many other genetic conditions. Dr. Basehore’s primary responsibilities include the clinical interpretation of molecular test results, the development and implementation of new molecular diagnostic assays, and involvement in various clinical research projects throughout the GGC. She also enjoys teaching students, fellows and others who come to GGC for training purposes and has been an adjunct Assistant Professor for the University of Texas M.D. Anderson Cancer Center since 2007.

Dr. Basehore is board-certified by the American Board of Medical Genetics and is a Fellow of the American College of Medical Genetics. She also holds membership in the American Society of Human Genetics (ASHG) and the Southeastern Regional Genetics Group (SERGG).

Selected Publications

• Book chapter
  • MJ Basehore and MJ Friez. Molecular Analysis of Fragile X Syndrome. Current Protocols in Human Genetics 2009; Chapter 9: Unit 9.5.
    
    
• Peer Reviewed Articles

  • 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 inflammatory bowel disease. Genet Med. 2011 Mar;13(3):255-62.

  • Champion KJ, Basehore MJ, Wood T, Destrée A, Vannuffel P, MaystadtI. 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.
    
    
  • 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. Am J Med Genet A 2008; 146(7):934-6.
    
    
  • 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.
    
    
  • TD Howard, WH Giles, J Xu, MA Wozniak, AM Malarcher, LA Lange, RF Macko, MJ Basehore, DA Meyers, JW Cole, SJ Kittner. 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.
    
    
  • MJ Basehore, TD Howard, LA Lange, WC Moore, GA Hawkins, PL Marshik, MS Harkins, DA Meyers, and ER Bleecker. 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.