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Kristen L. Deak

AddressChicago IL 60637
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Cope H, Barseghyan H, Bhattacharya S, Fu Y, Hoppman N, Marcou C, Walley N, Rehder C, Deak K, Alkelai A. Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey. Mol Genet Genomic Med. 2021 Jul; 9(7):e1665. PMID: 33955715.
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    2. Zhao Y, Sotolongo G, Deak K, Wang E. Acute myeloid leukemia arising from polycythemia vera underwent reversion to chronic phase of myeloproliferative neoplasm status post chemotherapy: Biclonal myeloid neoplasms with genomic evidence of a common early hematopoietic progenitor. Hematol Oncol. 2021 Apr; 39(2):254-257. PMID: 33137210.
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    3. Schoch K, Tan QK, Stong N, Deak KL, McConkie-Rosell A, McDonald MT. Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses. Genet Med. 2020 07; 22(7):1269-1275. PMID: 32366967.
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    4. Del Gaudio D, Shinawi M, Astbury C, Tayeh MK, Deak KL, Raca G. Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2020 07; 22(7):1133-1141. PMID: 32296163.
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    5. Williams JL, McDonald MT, Seifert BA, Deak KL, Rehder CW, Campbell MJ. An Unusual Association: Total Anomalous Pulmonary Venous Return and Aortic Arch Obstruction in Patients with Cat Eye Syndrome. J Pediatr Genet. 2021 Mar; 10(1):35-38. PMID: 33552636.
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    6. Mizumoto S, Janecke AR, Sadeghpour A, Povysil G, McDonald MT, Unger S, Greber-Platzer S, Deak KL, Katsanis N, Superti-Furga A, Sugahara K, Davis EE, Yamada S, Vodopiutz J. CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age. Hum Mutat. 2020 03; 41(3):655-667. PMID: 31705726.
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    7. Davis R, Deak K, Glass CH. Pulmonary Granular Cell Tumors: A Study of 4 Cases Including a Malignant Phenotype. Am J Surg Pathol. 2019 10; 43(10):1397-1402. PMID: 31180915.
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    8. 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. Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder. Hum Mol Genet. 2018 07 15; 27(14):2454-2465. PMID: 29726930.
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    9. Tanaka J, Su P, Luedke C, Jug R, Yang LH, Deak K, Rapisardo S, Zhang Y, Delos Angeles M, Xie Y, 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. Hum Pathol. 2018 06; 76:110-116. PMID: 29217426.
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    10. McCall CM, Mosier S, Thiess M, Debeljak M, Pallavajjala A, Beierl K, Deak KL, Datto MB, Gocke CD, Lin MT, Eshleman JR. False positives in multiplex PCR-based next-generation sequencing have unique signatures. J Mol Diagn. 2014 Sep; 16(5):541-549. PMID: 25017478.
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    11. Lockhart EL, Combs MR, Buck A, Horn S, Deak K. Transfusion medicine illustrated: Mosaic Trisomy 9 in an infant with mixed-field ABO blood grouping. Transfusion. 2013 Sep; 53(9):1884. PMID: 24015938.
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    12. Deak KL, Horn SR, Rehder CW. The evolving picture of microdeletion/microduplication syndromes in the age of microarray analysis: variable expressivity and genomic complexity. Clin Lab Med. 2011 Dec; 31(4):543-64, viii. PMID: 22118736.
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    13. Puri PK, Reddi DM, Spencer-Manzon M, Deak K, Steele SU, Mikati MA. Banding pattern on polarized hair microscopic examination and unilateral polymicrogyria in a patient with steroid sulfatase deficiency. Arch Dermatol. 2012 Jan; 148(1):73-8. PMID: 21931015.
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    14. Stamm DS, Powell CM, Stajich JM, Zismann VL, Stephan DA, Chesnut B, Aylsworth AS, Kahler SG, Deak KL, Gilbert JR, Speer MC. Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1. Neurology. 2008 Nov 25; 71(22):1764-9. PMID: 18843099.
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    15. Deak KL, Siegel DG, George TM, Gregory S, Ashley-Koch A, Speer MC. 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. 2008 Oct; 82(10):662-9. PMID: 18937341.
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    16. Deak KL, Lemmers RJ, Stajich JM, Klooster R, Tawil R, Frants RR, Speer MC, van der Maarel SM, Gilbert JR. Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4. Neurology. 2007 Feb 20; 68(8):578-82. PMID: 17229919.
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    17. 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. Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions. Environ Health Perspect. 2006 Oct; 114(10):1547-52. PMID: 17035141.
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    18. 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. 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. 2005 Nov; 73(11):868-75. PMID: 16237707.
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    19. 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, Speer MC. SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects. Hum Genet. 2005 Jul; 117(2-3):133-42. PMID: 15883837.
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