Research Description

I am a clinical geneticist and 50% of my effort is devoted to patient activity. I participate in a general genetics clinic one full day where with a team of genetic counselors and fellows we see a wide range of both adult and pediatric patients for evaluation, diagnosis, counseling and treatment for genetic disorders. In addition I am involved in several multidisciplinary clinics including Marfan clinic, Craniofacial clinic, and Neurogenetics clinic.

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. I am the Program Director for the Medical Genetics Residency Training Program, the Molecular Genetic Pathology Program, and the Genetics Laboratory Training Program in molecular and cytogenetics. I am also interested in developing curriculum to facilitate the training of clinical genetics professionals on new technology. Specifically I have been involved in developing tools that help counselors and clinicians to interpret new genetic technology such as microarray.

Since I am mostly involved in the clinical aspects of the Department of Human Genetics my research is collaborative where I provide a clinical perspective for others research programs. My goal is to provide clinical correlation for the basic science research projects in the department. I have been involved in projects looking at telomere genotype/phenotype correlations, Soto syndrome, and chromosome abnormalities. I have recently been involved in a project with Dr. Carole Ober studying different clinic phenotypes in the Hutterite populations.

Selected Publications

• C L Martin, D J Waggoner, A Wong, S Uhrig, J A Roseberry, J F Hedrick, S D Pack, K Russell, E Zackai, W B Dobyns, and D H Ledbetter. "molecular rulers" for calibrating phenotypic effects of telomere imbalance. J Med Genet, 39(10):734–40, Oct 2002.
• D Eash, D Waggoner, J Chung, D Stevenson, and C L Martin. Calibration of 6q subtelomere deletions to define genotype/phenotype correlations. Clin Genet, 67(5):396–403, May 2005. (Link)
• Katrina Tatton-Brown, Jenny Douglas, Kim Coleman, Genevieve Baujat, Trevor R P Cole, Soma Das, Denise Horn, Helen E Hughes, I Karen Temple, Francesca Faravelli, Darrel Waggoner, Seval Turkmen, Valerie Cormier-Daire, Alexandre Irrthum, Nazneen Rahman, and Childhood Overgrowth Collaboration. Genotype-phenotype associations in sotos syndrome: an analysis of 266 individuals with nsd1 aberrations. Am J Hum Genet, 77(2):193–204, Aug 2005. (Link)
• Darrel J Waggoner, Gordana Raca, Katherine Welch, Melissa Dempsey, Ethan Anderes, Irina Ostrovnaya, Asem Alkhateeb, Junichi Kamimura, Naomichi Matsumoto, G Bradley Schaeffer, Christa Lese Martin, and Soma Das. Nsd1 analysis for sotos syndrome: insights and perspectives from the clinical laboratory. Genet Med, 7(8):524–33, Oct 2005.
• Deborah A McDermott, Michael C Bressan, Jie He, Joseph S Lee, Salim Aftimos, Martina Brueckner, Fred Gilbert, Gail E Graham, Mark C Hannibal, Jeffrey W Innis, Mary Ella Pierpont, Annick Raas-Rothschild, Alan L Shanske, Wendy E Smith, Robert H Spencer, Martin G St John-Sutton, Lionel van Maldergem, Darrel J Waggoner, Matthew Weber, and Craig T Basson. Tbx5 genetic testing validates strict clinical criteria for holt-oram syndrome. Pediatr Res, 58(5):981–6, Nov 2005. (Link)
• Darrel J Waggoner and Christa Lese Martin. Integration of internet-based genetic databases into the medical school pre-clinical and clinical curriculum. Genet Med, 8(6):379–82, Jun 2006. (Link)
• Malgorzata J M Nowaczyk, Melissa T Carter, Jie Xu, Marlene Huggins, Gordana Raca, Soma Das, Christa Lese Martin, Stuart Schwartz, Robert Rosenfield, and Darrel J Waggoner. Paternal deletion 6q24.3: a new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance. Am J Med Genet A, 146(3):354–60, Feb 2008. (Link)
• D K Nolan, P Chen, S Das, C Ober, and D Waggoner. Fine mapping of a locus for nonsyndromic mental retardation on chromosome 19p13. Am J Med Genet A, 146A(11):1414–22, Jun 2008. (Link)
• D.T. Miller, M.P. Adam, S. Aradhya, L.G. Biesecker, A.R. Brothman, N.P. Carter, D.M. Church, J.A. Crolla, E.E. Eichler, C.J. Epstein, W.A. Faucett, L. Feuk, J.M. Friedman, A. Hamosh, L. Jackson, E.B. Kaminsky, K. Kok, I.D. Krantz, R.M. Kuhn, C. Lee, J.M. Ostell, C. Rosenberg, S.W. Scherer, N.B. Spinner, D.J. Stavropoulos, J.H. Tepperberg, E.C. Thorland, J.R. Vermeesch, D.J. Waggoner, M.S. Watson, C.L. Martin, and D.H. Ledbetter. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet, 86(5):749–764, May 2010. (Link)
• S.C. Reshmi, J.L. Miller, D. Deplewski, C. Close, L.J. Henderson, E. Littlejohn, S. Schwartz, and D.J. Waggoner. Evidence of a mechanism for isodicentric chromosome y formation in a 45,x/46,x,idic(y)(p11.31)/46,x,del(y)(p11.31) mosaic karyotype. Eur J Med Genet, Nov 2010. (Link)