Scholars@Duke

• Background
• 

  Education, Training, & Certifications

  • Clinical Cytogenetics Fellow, Human Genetics, The University of Chicago 2007 - 2009
  • Doctoral Researcher, Human G Enetics, Duke University 2007
  • Ph.D., Duke University 2006
• Publications & Artistic Works
• 

  Selected Publications

  • Academic Articles

    • Del Gaudio, Daniela, Marwan Shinawi, Caroline Astbury, Marwan K. Tayeh, Kristen L. Deak, Gordana Raca, and Gordana ACMG Laboratory Quality Assurance Committee. “Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG).” Genet Med 22, no. 7 (July 2020): 1133–41. https://doi.org/10.1038/s41436-020-0782-9.
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    • Schoch, Kelly, Queenie K-G Tan, Nicholas Stong, Kristen L. Deak, Allyn McConkie-Rosell, Marie T. McDonald, Marie T. Undiagnosed Diseases Network, David B. Goldstein, Yong-Hui Jiang, and Vandana Shashi. “Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses.” Genet Med 22, no. 7 (July 2020): 1269–75. https://doi.org/10.1038/s41436-020-0781-x.
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    • Mizumoto, Shuji, Andreas R. Janecke, Azita Sadeghpour, Gundula Povysil, Marie T. McDonald, Sheila Unger, Susanne Greber-Platzer, et al. “CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age.” Hum Mutat 41, no. 3 (March 2020): 655–67. https://doi.org/10.1002/humu.23952.
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    • Davis, Richard, Kristen Deak, and Carolyn H. Glass. “Pulmonary Granular Cell Tumors: A Study of 4 Cases Including a Malignant Phenotype.” Am J Surg Pathol 43, no. 10 (October 2019): 1397–1402. https://doi.org/10.1097/PAS.0000000000001303.
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    • Liu, Ning, Kelly Schoch, Xi Luo, Loren D. M. Pena, Venkata Hemanjani Bhavana, Mary K. Kukolich, Sarah Stringer, et al. “Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.” Hum Mol Genet 27, no. 14 (July 15, 2018): 2454–65. https://doi.org/10.1093/hmg/ddy146.
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    • Tanaka, John, Pu Su, Catherine Luedke, Rachel Jug, Lian-He Yang, Kristen Deak, Sarah Rapisardo, et al. “Composite lymphoma of follicular B-cell and peripheral T-cell types with distinct zone distribution in a 75-year-old male patient: a case study.” Hum Pathol 76 (June 2018): 110–16. https://doi.org/10.1016/j.humpath.2017.11.017.
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    • Altunel, E., A. A. Aljamal, J. Mantyh, K. Deak, W. Glover, S. J. McCall, M. Datto, J. Strickler, and D. S. Hsu. “Characterization of the epidermal growth factor receptor T790M mutation in colorectal cancer.” Jco Precision Oncology, no. 2 (January 1, 2018). https://doi.org/10.1200/PO.18.00194.
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    • McCall, Chad M., Stacy Mosier, Michele Thiess, Marija Debeljak, Aparna Pallavajjala, Katie Beierl, Kristen L. Deak, et al. “False positives in multiplex PCR-based next-generation sequencing have unique signatures.” J Mol Diagn 16, no. 5 (September 2014): 541–49. https://doi.org/10.1016/j.jmoldx.2014.06.001.
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    • Lockhart, Evelyn L., Martha Rae Combs, Andrew Buck, Sarah Horn, and Kristen Deak. “Transfusion medicine illustrated: Mosaic Trisomy 9 in an infant with mixed-field ABO blood grouping.” Transfusion 53, no. 9 (September 2013): 1884. https://doi.org/10.1111/trf.12094.
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    • Puri, Puja K., Deepti M. Reddi, Michele Spencer-Manzon, Kristen Deak, Sonya U. Steele, and Mohamad A. Mikati. “Banding pattern on polarized hair microscopic examination and unilateral polymicrogyria in a patient with steroid sulfatase deficiency.” Arch Dermatol 148, no. 1 (January 2012): 73–78. https://doi.org/10.1001/archdermatol.2011.281.
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    • Deak, Kristen L., Sarah R. Horn, and Catherine W. Rehder. “The evolving picture of microdeletion/microduplication syndromes in the age of microarray analysis: variable expressivity and genomic complexity.” Clin Lab Med 31, no. 4 (December 2011): 543–viii. https://doi.org/10.1016/j.cll.2011.08.008.
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    • Stamm, D. S., C. M. Powell, J. M. Stajich, V. L. Zismann, D. A. Stephan, B. Chesnut, A. S. Aylsworth, et al. “Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1.” Neurology 71, no. 22 (November 25, 2008): 1764–69. https://doi.org/10.1212/01.wnl.0000325060.16532.40.
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    • Deak, Kristen L., Deborah G. Siegel, Timothy M. George, Simon Gregory, Allison Ashley-Koch, Marcy C. Speer, and Marcy C. NTD Collaborative Group. “Further evidence for a maternal genetic effect and a sex-influenced effect contributing to risk for human neural tube defects.” Birth Defects Res a Clin Mol Teratol 82, no. 10 (October 2008): 662–69. https://doi.org/10.1002/bdra.20511.
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    • Deak, K. L., R. J. L. F. Lemmers, J. M. Stajich, R. Klooster, R. Tawil, R. R. Frants, M. C. Speer, S. M. van der Maarel, and J. R. Gilbert. “Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4.” Neurology 68, no. 8 (February 20, 2007): 578–82. https://doi.org/10.1212/01.wnl.0000254991.21818.f3.
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    • Boyles, Abee L., Ashley V. Billups, Kristen L. Deak, Deborah G. Siegel, Lorraine Mehltretter, Susan H. Slifer, Alexander G. Bassuk, et al. “Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions.” Environ Health Perspect 114, no. 10 (October 2006): 1547–52. https://doi.org/10.1289/ehp.9166.
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    • Deak, Kristen L., Margaret E. Dickerson, Elwood Linney, David S. Enterline, Timothy M. George, Elizabeth C. Melvin, Felicia L. Graham, et al. “Analysis of ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2 in human neural tube defects suggests a possible association with alleles in ALDH1A2.” Birth Defects Res a Clin Mol Teratol 73, no. 11 (November 2005): 868–75. https://doi.org/10.1002/bdra.20183.
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    • Deak, Kristen L., Abee L. Boyles, Heather C. Etchevers, Elizabeth C. Melvin, Deborah G. Siegel, Felicia L. Graham, Susan H. Slifer, et al. “SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects.” Hum Genet 117, no. 2–3 (July 2005): 133–42. https://doi.org/10.1007/s00439-005-1299-7.
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  • Conference Papers

    • LaBreche, H. G., M. T. McDonald, K. L. Deak, and C. W. Rehder. “Cytogenetic and Clinical Characterization of Three Cases of 17p13.3 Microduplication Involving PAFAH1B (LIS1).” In Cytogenetic and Genome Research, Vol. 142. KARGER, 2014.
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    • Horn, S. R., K. Nandi, K. L. Deak, C. W. Rehder, and B. K. Goodman. “Evolution of an Isoderivative Chromosome 7q in t-AML following Treatment of Triple-Negative Breast Cancer.” In Cytogenetic and Genome Research, 136:352–53. KARGER, 2012.
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