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 and Craniofacial 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 Genetics Laboratory Training Program in molecular and cytogenetics and soon to be Laboratory Genetics and Genomics program. 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 and Next Generation sequencing results for panels and exome sequencing.
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.
Recommendations for the integration of genomics into clinical practice.
Bowdin S et al.
(2016 Nov) Genet Med. 2016 Nov;18(11):1075-1084. doi: 10.1038/gim.2016.17. Epub 2016 May 12. 27171546
BATTEN DISEASE CAUSED BY A NOVEL MUTATION IN THE PPT1 GENE.
Metelitsina TI, Waggoner DJ, Grassi MA
(2016 Sum) Retin Cases Brief Rep. 2016 Summer;10(3):211-3. doi: 10.1097/ICB.0000000000000227. 26510000 (Full Text)
A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects.
Beck DB, Cho MT, Millan F, Yates C, Hannibal M, O'Connor B, Shinawi M, Connolly AM, Waggoner D, Halbach S, Angle B, Sanders V, Shen Y, Retterer K, Begtrup A, Bai R, Chung WK
(2016 Jul) Neurogenetics. 2016 Jul;17(3):173-8. doi: 10.1007/s10048-016-0482-4. Epub 2016 Apr 19. 27094857
Disclosure of genetic research results to members of a founder population.
Anderson RL, Murray K, Chong JX, Ouwenga R, Antillon M, Chen P, Diaz de Leon L, Swoboda KJ, Lester LA, Das S, Ober C, Waggoner DJ
(2014 Dec) J Genet Couns. 2014 Dec;23(6):984-91. doi: 10.1007/s10897-014-9721-8. Epub 2014 Apr 29. 24777552 (Full Text)
Professional medical education and genomics.
Demmer LA, Waggoner DJ
(2014) Annu Rev Genomics Hum Genet. 2014;15:507-16. doi: 10.1146/annurev-genom-090413-025522. Epub 2014 Mar 12. 24635717
Internet resources in medical genetics.
(2014 Jan) Curr Protoc Hum Genet. 2014 Jan 21;80:Unit 9.12.. doi: 10.1002/0471142905.hg0912s80. 24510683
Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.
Mullegama SV, Rosenfeld JA, Orellana C, van Bon BW, Halbach S, Repnikova EA, Brick L, Li C, Dupuis L, Rosello M, Aradhya S, Stavropoulos DJ, Manickam K, Mitchell E, Hodge JC, Talkowski ME, Gusella JF, Keller K, Zonana J, Schwartz S, Pyatt RE, Waggoner DJ, Shaffer LG, Lin AE, de Vries BB, Mendoza-Londono R, Elsea SH
(2014 Jan) Eur J Hum Genet. 2014 Jan;22(1):57-63. doi: 10.1038/ejhg.2013.67. Epub 2013 May 1. 23632792 (Full Text)
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
(2013 Jan) J Craniofac Surg. 2013 Jan;24(1):126-9. doi: 10.1097/SCS.0b013e31826686d3. 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
(2012 Oct) Am J Hum Genet. 2012 Oct 5;91(4):608-20. doi: 10.1016/j.ajhg.2012.08.007. Epub 2012 Sep 13. 22981120 (Full Text)
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
(2011 Mar) Eur J Med Genet. 2011 Mar-Apr;54(2):161-4. doi: 10.1016/j.ejmg.2010.11.002. Epub 2010 Nov 13. 21078420
Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
Fine mapping of a locus for nonsyndromic mental retardation on chromosome 19p13.
Nolan DK, Chen P, Das S, Ober C, Waggoner D
(2008 Jun) Am J Med Genet A. 2008 Jun 1;146A(11):1414-22. doi: 10.1002/ajmg.a.32307. 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
(2008 Feb) Am J Med Genet A. 2008 Feb 1;146A(3):354-60. doi: 10.1002/ajmg.a.32144. 18203180
Integration of internet-based genetic databases into the medical school pre-clinical and clinical curriculum.
Waggoner DJ, Martin CL
(2006 Jun) Genet Med. 2006 Jun;8(6):379-82. 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
(2005 Nov) Pediatr Res. 2005 Nov;58(5):981-6. Epub 2005 Sep 23. 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
(2005 Oct) Genet Med. 2005 Oct;7(8):524-33. 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
(2005 Aug) Am J Hum Genet. 2005 Aug;77(2):193-204. Epub 2005 Jun 7. 15942875 (Full Text)