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.
Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation.
Conboy E, Vairo F, Waggoner D, Ober C, Das S, Dhamija R, Klee EW, Pichurin P
(2017) Case Rep Genet. 2017;2017:9184265. doi: 10.1155/2017/9184265. Epub 2017 Apr 12. 28487785 (Full Text)
Medical genetics and genomics education: how do we define success? Where do we focus our resources?
Bennett RL, Waggoner D, Blitzer MG
(2017 Jul) Genet Med. 2017 Jul;19(7):751-753. doi: 10.1038/gim.2017.77. Epub 2017 Jun 15. 28617418
Synopsis of Guidelines for the Clinical Management of Cerebral Cavernous Malformations: Consensus Recommendations Based on Systematic Literature Review by the Angioma Alliance Scientific Advisory Board Clinical Experts Panel.
Akers A, Al-Shahi Salman R, A Awad I, Dahlem K, Flemming K, Hart B, Kim H, Jusue-Torres I, Kondziolka D, Lee C, Morrison L, Rigamonti D, Rebeiz T, Tournier-Lasserve E, Waggoner D, Whitehead K
(2017 May) Neurosurgery. 2017 May 1;80(5):665-680. doi: 10.1093/neuros/nyx091. 28387823
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
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
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)
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
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. doi: 10.1097/01.GIM.0000178503.15559.d3. 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. doi: 10.1086/432082. Epub 2005 Jun 7. 15942875 (Full Text)