Stefanie Dugan provides clinical consultation and interpretation to Versiti’s Diagnostic Laboratories and serves as a resource to ordering providers in support of our genetic testing services for patients with blood disorders. Additionally she continues a clinical practice in the Comprehensive Center for Bleeding Disorders clinic, working closely with the CCBD staff and providing genetic counseling to pediatric and adult patients with severe bleeding disorders. Previously Stefanie spent 14 years with Children’s Hospital of Wisconsin providing comprehensive genetic counseling services for adult and pediatric patients in a variety of clinical settings.

Refereed Journal Publications/Original Papers

1. Chiu YE, Dugan S, Basel D, Siegel DH. Association of Piebaldism, multiple café-au-lait macules, and intertriginous freckling: clinical evidence of a common pathway between KIT and sprouty-related, ena/vasodilator-stimulated phosphoprotein homology-1 domain containing protein 1 (SPRED1). Pediatr Dermatol. 2013;30(3):379-382.
2. Ross JE, Zhang BM, Lee K, Mohan S, Branchford BR, Bray P, Dugan SN, Freson K, Heller PG, Kahr WHA, Lambert MP, Luchtman-Jones L, Luo M, Perez Botero J, Rondina MT, Ryan G, Westbury S, Bergmeier W, Di Paola J. Specifications of the variant curation guidelines for ITGA2B/ITGB3: ClinGen Platelet Disorder Variant Curation Panel. Blood Adv. 2021 Jan 26;5(2):414-431.

Books, Chapters and Reviews

1. Perez Botero J., Dugan S.N., and Anderson M.W. ANKRD26-Related Thrombocytopenia. 2018 Jun 21. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK507664/.

Abstracts/Posters

1. Duffy, K., Bick, D.P., vanTuinen, P., Dugan, S., Yilmaz, A., Schwartz, C., Foulkes, W., Olivier, M. Somatic partial chromosome 11 duplication in patients with Proteus Syndrome. Abstract at ASHG Annual Meeting 2007, and ACMG Annual Meeting, 2007.
2. Chiu YE, Dugan S, Basel DG, Siegel DH. Piebaldism with Multiple Café-au-lait Macules and Intertriginous Freckling: Evidence for a Common Pathway between KIT and SPRED1. Accepted abstract and platform presentation, International Meeting on Genetic Syndromes of the Ras/MAPK Pathway, 2011.
3. Veith R, Dimmock D, Bick D, White A, Dugan S. Clinical Whole Genome Sequencing: Genetic Counseling and Informed Consent for Anticipated Incidental Findings. American College of Medical Genetics Meeting, Vancouver, Canada, March 16-20, 2011.
4. Veith R, Dugan S, Dimmock D, Bick D, White A. The First Year: Impressions from Clinicians and Families Following Clinical Utilization of Whole Genome Sequencing. Accepted abstract and platform presentation, American Society of Human Genetics Meeting, 2011.
5. Narayan S, Udani RA, Dugan SN, Anderson MW, Ben Ezer D, Friedman KD. Atypical Hemolytic Uremic Syndrome (aHUS) due to a Novel Sequence Variation of Diacylglycerol Kinase Epsilon (DGKE). American Society of Nephrology Kidney Week, San Diego, CA, November 2015.
6. Trapp-Stamborski V, Dugan SN, Friedman KD, Anderson MW, Udani RA. Genetic Evaluation in aHUS: Characterization of a Variant of Unknown Significance in CFHR3. American Society of Hematology Annual Meeting, Orlando, FL, December 2015. 
7. ML Alabek, SM Ghate, R Udani, KD Friedman, MW Anderson, LM Malec, LC Palmer, MV Ragni, SN Dugan. Complexities and resolution of gene variant interpretation in two hemophilia cases. World Federation of Hemophilia WFH 2016 World Congress, Orlando, FL, July 2016.
8. Dugan SN, Fischer M, Anderson MW, Friedman KD, Czajkowski C, Rauscher D, Birmingham K, Mladenova V, and Udani R. The Benefit of Genetic Test Utilization Guidance in the Esoteric Hematology Reference Laboratory. PLUGS Summit 2017, Seattle, WA, June 2017.
9. Dugan SN, Friedman KD, McCreery J, and Udani R. Maximizing Diagnostic Certainty for At-risk Hemophilia Carriers through Active Test Utilization Guidance. PLUGS Summit 2017, Seattle, WA, June 2017.
10. Dugan SN, Sullivan MJ, Springer MG, Trapp-Stamborski V, McCreery J, Sharma R, Friedman KD, Curtis BR, Wang L, Jobe SM, Perez Botero J. RUNX1-related Familial Platelet Disorder with Predisposition to Acute Myeloid Leukemia (FPD/AML) Presenting with Bleeding and Normal Platelet Count: the Importance of Recognizing the Platelet Dysfunction as part of the Phenotype. 2018 Thrombosis and Hemostasis Summit of North America (THSNA), San Diego, CA, March 2018.
11. McCreery J, Dugan SN, Howell KM, Chavez B. Identifying Challenges and Successes in Laboratory Stewardship: A National Esoteric Hematology Reference Laboratory Experience. PLUGS Summit 2018, Seattle, WA, June 2018.
12. Wang L, Sullivan MJ, Dugan SN, Trapp-Stamborski V, McCreery J, Springer MG, Rauscher D, Tracy S, Dash DP, Friedman KD, Perez Botero J. Definitive diagnosis of gray platelet syndrome (GPS) established by identification of novel NBEAL2 pathogenic variants highlights the utility of next-generation sequencing (NGS) for diagnosing rare platelet disorders. American College of Medical Genetics and Genomics (ACMG) 2019 Annual Clinical Genetics Meeting, Seattle, WA, April 2019.
13. McCreery J, Dugan SN, Matthiesen N. What Do our Clients Think? An Esoteric Hematology Reference Laboratory Stewardship Program Survey. PLUGS Summit 2019, Seattle, WA, June 2019.
14. Dugan SN, Miller AC, Sullivan MJ, Trapp-Stamborski V, Sharma R, Friedman KD, Curtis BR, McCreery J, Perez Botero J. MYH9 Diagnostic Yield: Reported Phenotypic Specificity Highlights Opportunity for Increased Clinician-Laboratory Partnership. Thirty Eighth Annual Conference of the National Society of Genetic Counselors, Salt Lake City, UT, November 2019.
15. MG Springer, J Perez Botero, SN Dugan, J McCreery, R Sharma, V Trapp-Stamborski, MJ Sullivan, S Tracey and KD Friedman. Low Prevalence of Pathogenic or Likely Pathogenic Variants in a USA Cohort Evaluated for Genetic Causes of Atypical Hemolytic Uremic Syndrome (aHUS). Toronto Complement Conference, March 2020.
16. Dugan SN, Springer MG, Perez Botero J, Sullivan MJ, Tracey S, Trapp-Stamborski V, Sharma R, McCreery J, Friedman KD. Low Prevalence Of Pathogenic Or Likely Pathogenic Variants In A Cohort Evaluated For Genetic Causes Of Atypical Hemolytic Uremic Syndrome. 2020 ACMG Clinical Genetics Meeting, Virtual Conference, May 2020.
17. J McCreery, A Miller, SN Dugan. Evaluating the Feasibility and Impact of Actively Requesting Clinical History at a Specialty Genetics Reference Laboratory. Thirty Ninth Annual Conference of the National Society of Genetic Counselors, Virtual Conference, November 2020.
18. J McCreery, A Miller, SN Dugan. Assessing the Impact of a Genetic Counseling Assistant at a Hematology Reference Laboratory. Thirty Ninth Annual Conference of the National Society of Genetic Counselors, Virtual Conference, November 2020.
19. Carls C, Ghate S, Dugan S, Sawh R, DeBran Tarver D. Utilization and Perceived Value of Genetic Counselors Within U.S. Hemophilia Treatment Centers. Fortieth Annual Conference of the National Society of Genetic Counselors, Virtual Conference, November 2021.