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Kristen L. Deak

InstitutionUniversity of Chicago
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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    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Beaman MM, Guidugli L, Hammer M, Barrows C, Gregor A, Lee S, Deak KL, McDonald MT, Jensen C, Zaki MS, Masri AT, Hobbs CA, Gleeson JG, Cohen JL. Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome. Am J Med Genet A. 2023 11; 191(11):2757-2767. PMID: 37596828.
      Citations:    Fields:    Translation:HumansAnimals
    2. Zhao Y, Siddiqi I, Wildes TJ, McCracken J, Deak K, Rehder C, Wang E. Chronic Lymphocytic Leukemia With Two B-Cell Populations of Discordant Light Chain Restrictions in Individual Patients: Parallel Development of Biclonal B-Cell Neoplasms or Clonal Evolution With Isotype Switch? Am J Clin Pathol. 2023 04 04; 159(4):337-351. PMID: 36749322.
      Citations:    Fields:    Translation:HumansCells
    3. Keefer LA, White JR, Wood DE, Gerding KMR, Valkenburg KC, Riley D, Gault C, Papp E, Vollmer CM, Greer A, Hernandez J, McGregor PM, Zingone A, Deak K, McCall SJ, Datto MB, Prescott JL, Thompson JF, Cerqueira GC, Simmons JK, McElhinny A, Dickey J, Angiuoli SV, Diaz LA, Velculescu VE, Sausen M, Ryan BM, Jones S. Automated next-generation profiling of genomic alterations in human cancers. Nat Commun. 2022 05 20; 13(1):2830. PMID: 35595835; PMCID: PMC9123004.
      Citations: 6     Fields:    Translation:Humans
    4. Hijazi G, Paschall A, Young SP, Smith B, Case LE, Boggs T, Amarasekara S, Austin SL, Pendyal S, El-Gharbawy A, Deak KL, Muir AJ, Kishnani PS. A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III. Mol Genet Metab Rep. 2021 Dec; 29:100821. PMID: 34820282; PMCID: PMC8600151.
      Citations: 6     
    5. Deak KL, Jackson JB, Valkenburg KC, Keefer LA, Robinson Gerding KM, Angiuoli SV, Datto MB, McCall SJ. Next-Generation Sequencing Concordance Analysis of Comprehensive Solid Tumor Profiling between a Centralized Specialty Laboratory and the Decentralized Personal Genome Diagnostics elio Tissue Complete Kitted Solution. J Mol Diagn. 2021 10; 23(10):1324-1333. PMID: 34314880; PMCID: PMC8567158.
      Citations: 6     Fields:    Translation:Humans
    6. Cope H, Barseghyan H, Bhattacharya S, Fu Y, Hoppman N, Marcou C, Walley N, Rehder C, Deak K, Alkelai A, Undiagnosed Diseases Network, Vilain E, Shashi V. Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey. Mol Genet Genomic Med. 2021 07; 9(7):e1665. PMID: 33955715; PMCID: PMC8372083.
      Citations: 7     Fields:    Translation:Humans
    7. 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.
      Citations:    Fields:    Translation:HumansCells
    8. Schoch K, Tan QK, Stong N, Deak KL, McConkie-Rosell A, McDonald MT, Undiagnosed Diseases Network, Goldstein DB, Jiang YH, Shashi V. Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses. Genet Med. 2020 07; 22(7):1269-1275. PMID: 32366967; PMCID: PMC7335342.
      Citations: 18     Fields:    Translation:HumansCells
    9. Del Gaudio D, Shinawi M, Astbury C, Tayeh MK, Deak KL, Raca G, 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. 2020 07; 22(7):1133-1141. PMID: 32296163.
      Citations: 47     Fields:    Translation:Humans
    10. 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; PMCID: PMC7853914.
      Citations: 2     
    11. 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; PMCID: PMC7027858.
      Citations: 10     Fields:    Translation:HumansCells
    12. 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.
      Citations: 4     Fields:    Translation:Humans
    13. Altunel E, Aljamal AA, Mantyh J, Deak K, Glover W, McCall SJ, Datto M, Strickler J, Hsu DS. Characterization of the Epidermal Growth Factor Receptor T790M Mutation in Colorectal Cancer. JCO Precis Oncol. 2018 Nov; 2:1-7. PMID: 35135168.
      Citations: 1     Fields:    
    14. Liu N, Schoch K, Luo X, Pena LDM, Bhavana VH, Kukolich MK, Stringer S, 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, Yamamoto S, Powis Z. 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; PMCID: PMC6030957.
      Citations: 33     Fields:    Translation:HumansAnimals
    15. 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.
      Citations: 3     Fields:    Translation:Humans
    16. 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; PMCID: PMC4188281.
      Citations: 26     Fields:    Translation:Humans
    17. 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.
      Citations:    Fields:    Translation:HumansCells
    18. 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.
      Citations: 9     Fields:    Translation:Humans
    19. 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.
      Citations: 3     Fields:    Translation:Humans
    20. 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.
      Citations: 10     Fields:    Translation:HumansCells
    21. Deak KL, Siegel DG, George TM, Gregory S, Ashley-Koch A, Speer MC, 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. 2008 Oct; 82(10):662-9. PMID: 18937341; PMCID: PMC2981339.
      Citations: 31     Fields:    Translation:Humans
    22. 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.
      Citations: 16     Fields:    Translation:HumansCells
    23. 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, NTD Collaborative Group. 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; PMCID: PMC1626421.
      Citations: 45     Fields:    Translation:Humans
    24. 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, 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. 2005 Nov; 73(11):868-75. PMID: 16237707.
      Citations: 23     Fields:    Translation:HumansAnimals
    25. 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; PMCID: PMC3130962.
      Citations: 15     Fields:    Translation:Humans
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