Scholars@Duke

• Background
• 

  Education, Training, & Certifications

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

  Selected Publications

  • Journal Articles

    • Liu, N, Schoch, K, Luo, X, Pena, LDM, Bhavana, VH, Kukolich, MK, Stringer, S, Powis, Z, Radtke, K, Mroske, C, Deak, KL, McDonald, MT, McConkie-Rosell, A, Markert, ML, Kranz, PG, Stong, N, Need, AC, Bick, D, Amaral, MD, Worthey, EA, Levy, S, Undiagnosed Diseases Network (UDN), , Wangler, MF, Bellen, HJ, Shashi, V, and Yamamoto, S. "Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder." Human Molecular Genetics 27, no. 14 (July 2018): 2454-2465.  Full Text
    • Tanaka, J, Su, P, Luedke, C, Jug, R, Yang, L-H, Deak, K, Rapisardo, S, Zhang, Y, Delos Angeles, M, Xie, Y, and Wang, E. "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." Human Pathology 76 (June 2018): 110-116.  Full Text
    • McCall, CM, Mosier, S, Thiess, M, Debeljak, M, Pallavajjala, A, Beierl, K, Deak, KL, Datto, MB, Gocke, CD, Lin, M-T, and Eshleman, JR. "False positives in multiplex PCR-based next-generation sequencing have unique signatures." The Journal of Molecular Diagnostics : Jmd 16, no. 5 (September 2014): 541-549.  Full Text
    • Lockhart, EL, Combs, MR, Buck, A, Horn, S, and Deak, K. "Transfusion medicine illustrated: Mosaic Trisomy 9 in an infant with mixed-field ABO blood grouping." Transfusion 53, no. 9 (September 1, 2013): 1884-.  Full Text
    • Lockhart, EL, Combs, MR, Buck, A, Horn, S, and Deak, K. "Transfusion medicine illustrated: Mosaic Trisomy 9 in an infant with mixed-field ABO blood grouping." Transfusion 53, no. 9 (September 2013): 1884-.  Full Text  Link to Item
    • Puri, PK, Reddi, DM, Spencer-Manzon, M, Deak, K, Steele, SU, and Mikati, MA. "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.  Full Text  Link to Item
    • Deak, KL, Horn, SR, and Rehder, CW. "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. (Review)  Full Text  Link to Item
    • Stamm, DS, Powell, CM, Stajich, JM, Zismann, VL, Stephan, DA, Chesnut, B, Aylsworth, AS, Kahler, SG, Deak, KL, Gilbert, JR, and Speer, MC. "Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1." Neurology 71, no. 22 (November 2008): 1764-1769.  Full Text
    • Deak, KL, Siegel, DG, George, TM, Gregory, S, Ashley-Koch, A, Speer, MC, and 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): 662-669.  Full Text  Link to Item
    • Deak, KL, Lemmers, RJLF, Stajich, JM, Klooster, R, Tawil, R, Frants, RR, Speer, MC, van der Maarel, SM, and Gilbert, JR. "Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4." Neurology 68, no. 8 (February 20, 2007): 578-582.  Full Text  Link to Item
    • Boyles, AL, Billups, AV, Deak, KL, Siegel, DG, Mehltretter, L, Slifer, SH, Bassuk, AG, Kessler, JA, Reed, MC, Nijhout, HF, George, TM, Enterline, DS, Gilbert, JR, Speer, MC, and NTD Collaborative Group, . "Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions." Environmental Health Perspectives 114, no. 10 (October 2006): 1547-1552.  Full Text
    • Deak, KL, Dickerson, ME, Linney, E, Enterline, DS, George, TM, Melvin, EC, Graham, FL, Siegel, DG, Hammock, P, Mehltretter, L, Bassuk, AG, Kessler, JA, Gilbert, JR, Speer, MC, and NTD Collaborative Group, . "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): 868-875.  Full Text  Link to Item
    • Deak, KL, Boyles, AL, Etchevers, HC, Melvin, EC, Siegel, DG, Graham, FL, Slifer, SH, Enterline, DS, George, TM, Vekemans, M, McClay, D, Bassuk, AG, Kessler, JA, Linney, E, Gilbert, JR, and Speer, MC. "SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects." Human Genetics 117, no. 2-3 (July 2005): 133-142.  Full Text

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