Darrel J Waggoner
Research Summary / Selected Publications
My research in the past has focused on genetic diseases, which reveal insight into normal copper metabolism in the cell. I am now more involved in the clinical aspect of the Department of Human Genetics and am interested in developing research projects from the clinical perspective. My interests are in studying chromosome abnormalities and genotype/phenotype correlations to better understand the role of specific genes in developmental processes. I am also interested in translational genetics and developing programs to apply research findings to clinical practice and to study the patterns of genetic testing by health care providers.
I am also involved in education throughout the university specifically in the medical school. I am interested in developing new and unique curriculum for integrating genetics into the four years of the medical school training and residency programs.
My research in the past has focused on genetic diseases, which reveal insight into normal copper metabolism in the cell. I am now more involved in the clinical aspect of the Department of Human Genetics and am interested in developing research projects from the clinical perspective. My interests are in studying chromosome abnormalities and genotype/phenotype correlations to better understand the role of specific genes in developmental processes. I am also interested in translational genetics and developing programs to apply research findings to clinical practice and to study the patterns of genetic testing by health care providers.
I am also involved in education throughout the university specifically in the medical school. I am interested in developing new and unique curriculum for integrating genetics into the four years of the medical school training and residency programs.
Waggoner DJ, Matrin CL: Integration of internet-based genetic databases into the medical school pre-clinical and clinical curriculum. Genet Med. 8(6):379-82, 2006.
Waggoner DJ, Raca G, Welch K, Dempsey M, Anderes E, Ostrovnaya I, Alkhateeb A, Kamimura J, Matsumoto N, Schaeffer GB, Martin CL, Das, S: NSD1 analysis for Sotos syndrome: Insights and perspectives from the clinical laboratory. Genetics in Medicine 7(8):524-333, 2005.
Lese Martin, C.*, Waggoner, D.J. *, (* denotes equal contribution), Wong, A., Uhrig, S., Roseberry, J.A., Hedrick, J.F., Pack, S.D., Russell, K., Zackai, E., Dobyns, W.B., Ledbetter, D.H.: "Molecular rulers" for calibrating phenotypic effects of telomere imbalance. Journal of Medical Genetics 39(10): 734-740, 2002.
Waggoner DJ, Bartnikas TB, Gitlin JD. The Role of Copper in Neurodegenerative Disease. Neurobiol Dis 6(4): 221-230, 1999.
Waggoner DJ, Drisaldi B, Bartnikas TB, Casareno RLB, Prohaska JR, Gitlin JD, Harris DA. Brain Copper Contetn and Cuproenzyme Activity do not Vary with Prion Protein Expression Level. J Biol Chem 275(11):7455-8, 2000.
Wong PC, Waggoner D, Subramaniam JR, Tessarollo L, Bartnikas TB, Culotta VC, Price DL, Rothstein J, Gitlin JD. Copper chaperone for superoxide dismutase is essential to activate mammalian Cu/Zn superoxide dismutase. Proc Natl Acad Sci USA 97(6):2886-91, 2000.
Waggoner DJ, Ueda K, Mantia C, Dowton SB. Methylmalonic Aciduria (cblF): Case Report and Response to Therapy. Am J Med Genet 79(5): 373-375, 1998.
Waggoner DJ, Matrin CL: Integration of internet-based genetic databases into the medical school pre-clinical and clinical curriculum. Genet Med. 8(6):379-82, 2006.
Waggoner DJ, Raca G, Welch K, Dempsey M, Anderes E, Ostrovnaya I, Alkhateeb A, Kamimura J, Matsumoto N, Schaeffer GB, Martin CL, Das, S: NSD1 analysis for Sotos syndrome: Insights and perspectives from the clinical laboratory. Genetics in Medicine 7(8):524-333, 2005.
Lese Martin, C.*, Waggoner, D.J. *, (* denotes equal contribution), Wong, A., Uhrig, S., Roseberry, J.A., Hedrick, J.F., Pack, S.D., Russell, K., Zackai, E., Dobyns, W.B., Ledbetter, D.H.: "Molecular rulers" for calibrating phenotypic effects of telomere imbalance. Journal of Medical Genetics 39(10): 734-740, 2002.
Waggoner DJ, Bartnikas TB, Gitlin JD. The Role of Copper in Neurodegenerative Disease. Neurobiol Dis 6(4): 221-230, 1999.
Waggoner DJ, Drisaldi B, Bartnikas TB, Casareno RLB, Prohaska JR, Gitlin JD, Harris DA. Brain Copper Contetn and Cuproenzyme Activity do not Vary with Prion Protein Expression Level. J Biol Chem 275(11):7455-8, 2000.
Wong PC, Waggoner D, Subramaniam JR, Tessarollo L, Bartnikas TB, Culotta VC, Price DL, Rothstein J, Gitlin JD. Copper chaperone for superoxide dismutase is essential to activate mammalian Cu/Zn superoxide dismutase. Proc Natl Acad Sci USA 97(6):2886-91, 2000.
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