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

RUNX2 quadruplication: additional evidence toward a new form of syndromic craniosynostosis.

Greives MR, Odessey EA, Waggoner DJ, Shenaq DS, Aradhya S, Mitchell A, Whitcomb E, Warshawsky N, He TC, Reid RR

(Jan 2013) The Journal of craniofacial surgery 24(1):126-9 PMID:23348268

A population-based study of autosomal-recessive disease-causing mutations in a founder population.

Chong JX, Ouwenga R, Anderson RL, Waggoner DJ, Ober C

(Oct 2012) American journal of human genetics 91(4):608-20 PMID:22981120 (Full Text)

Fine mapping of a locus for nonsyndromic mental retardation on chromosome 19p13.

Nolan DK, Chen P, Das S, Ober C, Waggoner D

(Jun 2008) American journal of medical genetics. Part A 146A(11):1414-22 PMID:18446860

Paternal deletion 6q24.3: a new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance.

Nowaczyk MJ, Carter MT, Xu J, Huggins M, Raca G, Das S, Martin CL, Schwartz S, Rosenfield R, Waggoner DJ

(Feb 2008) American journal of medical genetics. Part A 146(3):354-60 PMID:18203180

Integration of internet-based genetic databases into the medical school pre-clinical and clinical curriculum.

Waggoner DJ, Martin CL

(Jun 2006) Genetics in medicine : official journal of the American College of Medical Genetics 8(6):379-82 PMID:16778600

TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome.

McDermott DA, Bressan MC, He J, Lee JS, Aftimos S, Brueckner M, Gilbert F, Graham GE, Hannibal MC, Innis JW, Pierpont ME, Raas-Rothschild A, Shanske AL, Smith WE, Spencer RH, St John-Sutton MG, van Maldergem L, Waggoner DJ, Weber M, Basson CT

(Nov 2005) Pediatric research 58(5):981-6 PMID:16183809

NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory.

Waggoner DJ, Raca G, Welch K, Dempsey M, Anderes E, Ostrovnaya I, Alkhateeb A, Kamimura J, Matsumoto N, Schaeffer GB, Martin CL, Das S

(Oct 2005) Genetics in medicine : official journal of the American College of Medical Genetics 7(8):524-33 PMID:16247291

Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.

Tatton-Brown K, Douglas J, Coleman K, Baujat G, Cole TR, Das S, Horn D, Hughes HE, Temple IK, Faravelli F, Waggoner D, Turkmen S, Cormier-Daire V, Irrthum A, Rahman N

(Aug 2005) American journal of human genetics 77(2):193-204 PMID:15942875 (Full Text)

Calibration of 6q subtelomere deletions to define genotype/phenotype correlations.

Eash D, Waggoner D, Chung J, Stevenson D, Martin CL

(May 2005) Clinical genetics 67(5):396-403 PMID:15811006

"Molecular rulers" for calibrating phenotypic effects of telomere imbalance.

Martin CL, Waggoner DJ, Wong A, Uhrig S, Roseberry JA, Hedrick JF, Pack SD, Russell K, Zackai E, Dobyns WB, Ledbetter DH

(Oct 2002) Journal of medical genetics 39(10):734-40 PMID:12362030 (Full Text)

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

David T. Miller, Margaret P. Adam, Swaroop Aradhya, Leslie G. Biesecker, Arthur R. Brothman, Nigel P. Carter, Deanna M. Church, John A. Crolla, Evan E. Eichler, Charles J. Epstein, W. Andrew Faucett, Lars Feuk, Jan M. Friedman, Ada Hamosh, Laird Jackson, Erin B. Kaminsky, Klaas Kok, Ian D. Krantz, Robert M. Kuhn, Charles Lee, James M. Ostell, Carla Rosenberg, Stephen W. Scherer, Nancy B. Spinner, Dimitri J. Stavropoulos, James H. Tepperberg, Erik C. Thorland, Joris R. Vermeesch, Darrel J. Waggoner, Michael S. Watson, Christa Lese Martin, David H. Ledbetter

(Link)

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.

Reshmi SC, Miller JL, Deplewski D, Close C, Henderson LJ, Littlejohn E, Schwartz S, Waggoner DJ

European journal of medical genetics 54(2):161-4 PMID:21078420