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Research Interest:
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.
Publications:
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. |