Medical College of Wisconsin
CTSICores SearchResearch InformaticsREDCap

Amy Turner

Research Scientist I

Institution: Medical College of Wisconsin
Department: Pediatrics
Division: Genomic Pediatrics
Program: Genomic Pediatrics

Research Areas of Interest

  • Alleles
  • Animals
  • Base Sequence
  • Cell Differentiation
  • Cells, Cultured
  • Computational Biology
  • Cytochrome P-450 CYP2D6
  • Cytochrome P-450 Enzyme System
  • DNA
  • Exosomes
  • Female
  • Gene Expression Profiling
  • Gene Expression Regulation
  • Genetic Testing
  • Genetic Variation
  • Genotype
  • Genotyping Techniques
  • Haplotypes
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Induced Pluripotent Stem Cells
  • Interleukin-12
  • Liquid Biopsy
  • Lung
  • Multivesicular Bodies
  • Myocytes, Cardiac
  • Pharmacogenetics
  • Pharmacogenomic Testing
  • Pharmacogenomic Variants
  • Phenotype
  • Polymorphism, Genetic
  • Protein Binding
  • Pyrophosphatases
  • RNA, Messenger
  • Receptors, Interleukin-12
  • Reproducibility of Results
  • Sequence Analysis, RNA
  • Signal Transduction
  • Transcriptome
  • Publications (24)

  • Acceptability of Using Real-World Data to Estimate Relative Treatment Effects in Health Technology Assessments: Barriers and Future Steps. (Gomes M, Turner AJ, Sammon C, Dawoud D, Ramagopalan S, Simpson A, Siebert U) Value Health 2024 Feb 17 PMID: 38369282 SCOPUS ID: 2-s2.0-85188938696 02/19/2024    
  • Updated DPYD HapB3 haplotype structure and implications for pharmacogenomic testing. (Turner AJ, Haidar CE, Yang W, Boone EC, Offer SM, Empey PE, Haddad A, Tahir S, Scharer G, Broeckel U, Gaedigk A) Clin Transl Sci 2024 Jan;17(1):e13699 PMID: 38129972 PMCID: PMC10777430 SCOPUS ID: 2-s2.0-85181901896 12/22/2023    
  • PharmVar Tutorial on CYP2D6 Structural Variation Testing and Recommendations on Reporting. (Turner AJ, Nofziger C, Ramey BE, Ly RC, Bousman CA, Agúndez JAG, Sangkuhl K, Whirl-Carrillo M, Vanoni S, Dunnenberger HM, Ruaño G, Kennedy MA, Phillips MS, Hachad H, Klein TE, Moyer AM, Gaedigk A) Clin Pharmacol Ther 2023 Dec;114(6):1220-1237 PMID: 37669183 PMCID: PMC10840842 SCOPUS ID: 2-s2.0-85173089740 09/05/2023       1 Citation
  • Characterization of complex structural variation in the CYP2D6-CYP2D7-CYP2D8 gene loci using single-molecule long-read sequencing. (Turner AJ, Derezinski AD, Gaedigk A, Berres ME, Gregornik DB, Brown K, Broeckel U, Scharer G) Front Pharmacol 2023;14:1195778 PMID: 37426826 PMCID: PMC10324673 SCOPUS ID: 2-s2.0-85164511687 07/10/2023       2 Citations
  • Characterization of Reference Materials for CYP3A4 and CYP3A5: A (GeT-RM) Collaborative Project. (Gaedigk A, Boone EC, Turner AJ, van Schaik RHN, Chernova D, Wang WY, Broeckel U, Granfield CA, Hodge JC, Ly RC, Lynnes TC, Mitchell MW, Moyer AM, Oliva J, Kalman LV) J Mol Diagn 2023 Sep;25(9):655-664 PMID: 37354993 SCOPUS ID: 2-s2.0-85168428012 06/25/2023       3 Citations
  • Characterization of Novel CYP2D6 Alleles across Sub-Saharan African Populations. (Wang WY, Twesigomwe D, Nofziger C, Turner AJ, Helmecke LS, Broeckel U, Derezinski AD, Hazelhurst S, Gaedigk A) J Pers Med 2022 Sep 24;12(10) PMID: 36294714 PMCID: PMC9605556 SCOPUS ID: 2-s2.0-85140747518 10/28/2022       15 Citations
  • Characterization of Reference Materials for TPMT and NUDT15: A GeT-RM Collaborative Project. (Pratt VM, Wang WY, Boone EC, Broeckel U, Cody N, Edelmann L, Gaedigk A, Lynnes TC, Medeiros EB, Moyer AM, Mitchell MW, Scott SA, Starostik P, Turner A, Kalman LV) J Mol Diagn 2022 Oct;24(10):1079-1088 PMID: 35931342 PMCID: PMC9554816 SCOPUS ID: 2-s2.0-85139374747 08/06/2022       7 Citations
  • Characterization of Reference Materials with an Association for Molecular Pathology Pharmacogenetics Working Group Tier 2 Status: CYP2C9, CYP2C19, VKORC1, CYP2C Cluster Variant, and GGCX: A GeT-RM Collaborative Project. (Pratt VM, Turner A, Broeckel U, Dawson DB, Gaedigk A, Lynnes TC, Medeiros EB, Moyer AM, Requesens D, Vetrini F, Kalman LV) J Mol Diagn 2021 Aug;23(8):952-958 PMID: 34020041 PMCID: PMC8491090 SCOPUS ID: 2-s2.0-85109633971 05/22/2021       8 Citations
  • Whole-Exome Sequencing and hiPSC Cardiomyocyte Models Identify MYRIP, TRAPPC11, and SLC27A6 of Potential Importance to Left Ventricular Hypertrophy in an African Ancestry Population. (Irvin MR, Aggarwal P, Claas SA, de Las Fuentes L, Do AN, Gu CC, Matter A, Olson BS, Patki A, Schwander K, Smith JD, Srinivasasainagendra V, Tiwari HK, Turner AJ, Nickerson DA, Rao DC, Broeckel U, Arnett DK) Front Genet 2021;12:588452 PMID: 33679876 PMCID: PMC7933688 SCOPUS ID: 2-s2.0-85102295941 03/09/2021       6 Citations
  • Identification of CYP2D6 Haplotypes that Interfere with Commonly Used Assays for Copy Number Variation Characterization. (Turner AJ, Aggarwal P, Boone EC, Haidar CE, Relling MV, Derezinski AD, Broeckel U, Gaedigk A) J Mol Diagn 2021 May;23(5):577-588 PMID: 33631352 PMCID: PMC8176139 SCOPUS ID: 2-s2.0-85104414851 02/26/2021       9 Citations
  • Donor-specific phenotypic variation in hiPSC cardiomyocyte-derived exosomes impacts endothelial cell function. (Turner A, Aggarwal P, Matter A, Olson B, Gu CC, Hunt SC, Lewis CE, Arnett DK, Lorier R, Broeckel U) Am J Physiol Heart Circ Physiol 2021 Mar 01;320(3):H954-H968 PMID: 33416449 PMCID: PMC8294700 SCOPUS ID: 2-s2.0-85102212257 01/09/2021       8 Citations
  • PharmVar GeneFocus: CYP2D6. (Nofziger C, Turner AJ, Sangkuhl K, Whirl-Carrillo M, Agúndez JAG, Black JL, Dunnenberger HM, Ruano G, Kennedy MA, Phillips MS, Hachad H, Klein TE, Gaedigk A) Clin Pharmacol Ther 2020 Jan;107(1):154-170 PMID: 31544239 PMCID: PMC6925641 SCOPUS ID: 2-s2.0-85074610699 09/24/2019       148 Citations
  • Characterization of Reference Materials for Genetic Testing of CYP2D6 Alleles: A GeT-RM Collaborative Project. (Gaedigk A, Turner A, Everts RE, Scott SA, Aggarwal P, Broeckel U, McMillin GA, Melis R, Boone EC, Pratt VM, Kalman LV) J Mol Diagn 2019 Nov;21(6):1034-1052 PMID: 31401124 PMCID: PMC6854474 SCOPUS ID: 2-s2.0-85073566807 08/12/2019       45 Citations
  • Challenges in clinical implementation of CYP2D6 genotyping: choice of variants to test affects phenotype determination. (Hoshitsuki K, Crews KR, Yang W, Smith CA, Hankins JS, Turner AJ, Broeckel U, McMillin GA, Relling MV, Haidar CE) Genet Med 2020 Jan;22(1):232-233 PMID: 31341243 PMCID: PMC7702299 SCOPUS ID: 2-s2.0-85069725117 07/26/2019       8 Citations
  • Pharmacogene Variation Consortium Gene Introduction: NUDT15. (Yang JJ, Whirl-Carrillo M, Scott SA, Turner AJ, Schwab M, Tanaka Y, Suarez-Kurtz G, Schaeffeler E, Klein TE, Miller NA, Gaedigk A) Clin Pharmacol Ther 2019 May;105(5):1091-1094 PMID: 30515762 PMCID: PMC6465081 SCOPUS ID: 2-s2.0-85058005354 12/06/2018       41 Citations
  • Human IL12RB1 expression is allele-biased and produces a novel IL12 response regulator. (Reeme AE, Claeys TA, Aggarwal P, Turner AJ, Routes JM, Broeckel U, Robinson RT) Genes Immun 2019 Mar;20(3):181-197 PMID: 29599514 PMCID: PMC6165718 SCOPUS ID: 2-s2.0-85044534384 03/31/2018       3 Citations
  • PLCγ-dependent mTOR signalling controls IL-7-mediated early B cell development. (Yu M, Chen Y, Zeng H, Zheng Y, Fu G, Zhu W, Broeckel U, Aggarwal P, Turner A, Neale G, Guy C, Zhu N, Chi H, Wen R, Wang D) Nat Commun 2017 Nov 13;8(1):1457 PMID: 29133930 PMCID: PMC5684131 SCOPUS ID: 2-s2.0-85034212045 11/15/2017       26 Citations
  • Comprehensive evaluation of AmpliSeq transcriptome, a novel targeted whole transcriptome RNA sequencing methodology for global gene expression analysis. (Li W, Turner A, Aggarwal P, Matter A, Storvick E, Arnett DK, Broeckel U) BMC Genomics 2015 Dec 16;16:1069 PMID: 26673413 PMCID: PMC4681149 SCOPUS ID: 2-s2.0-84949678611 12/18/2015       67 Citations
  • The introduction of RNA-DNA differences underlies interindividual variation in the human IL12RB1 mRNA repertoire. (Turner AJ, Aggarwal P, Miller HE, Waukau J, Routes JM, Broeckel U, Robinson RT) Proc Natl Acad Sci U S A 2015 Dec 15;112(50):15414-9 PMID: 26621740 PMCID: PMC4687591 SCOPUS ID: 2-s2.0-84950107978 12/02/2015       6 Citations
  • Characterization of 137 Genomic DNA Reference Materials for 28 Pharmacogenetic Genes: A GeT-RM Collaborative Project. (Pratt VM, Everts RE, Aggarwal P, Beyer BN, Broeckel U, Epstein-Baak R, Hujsak P, Kornreich R, Liao J, Lorier R, Scott SA, Smith CH, Toji LH, Turner A, Kalman LV) J Mol Diagn 2016 Jan;18(1):109-23 PMID: 26621101 PMCID: PMC4695224 SCOPUS ID: 2-s2.0-84954064957 12/02/2015       103 Citations
  • Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes. (Giampietro PF, Armstrong L, Stoddard A, Blank RD, Livingston J, Raggio CL, Rasmussen K, Pickart M, Lorier R, Turner A, Sund S, Sobrera N, Neptune E, Sweetser D, Santiago-Cornier A, Broeckel U) Am J Med Genet A 2015 Jan;167A(1):95-102 PMID: 25348728 SCOPUS ID: 2-s2.0-84919632833 10/29/2014       12 Citations
  • RNA expression profiling of human iPSC-derived cardiomyocytes in a cardiac hypertrophy model. (Aggarwal P, Turner A, Matter A, Kattman SJ, Stoddard A, Lorier R, Swanson BJ, Arnett DK, Broeckel U) PLoS One 2014;9(9):e108051 PMID: 25255322 PMCID: PMC4177883 SCOPUS ID: 2-s2.0-84907587769 09/26/2014       43 Citations
  • IL-10 produced by induced regulatory T cells (iTregs) controls colitis and pathogenic ex-iTregs during immunotherapy. (Schmitt EG, Haribhai D, Williams JB, Aggarwal P, Jia S, Charbonnier LM, Yan K, Lorier R, Turner A, Ziegelbauer J, Georgiev P, Simpson P, Salzman NH, Hessner MJ, Broeckel U, Chatila TA, Williams CB) J Immunol 2012 Dec 15;189(12):5638-48 PMID: 23125413 PMCID: PMC3537488 SCOPUS ID: 2-s2.0-84871173673 11/06/2012       71 Citations
  • Whole-exome sequencing and an iPSC-derived cardiomyocyte model provides a powerful platform for gene discovery in left ventricular hypertrophy. (Zhi D, Irvin MR, Gu CC, Stoddard AJ, Lorier R, Matter A, Rao DC, Srinivasasainagendra V, Tiwari HK, Turner A, Broeckel U, Arnett DK) Front Genet 2012;3:92 PMID: 22654895 PMCID: PMC3361011 SCOPUS ID: 2-s2.0-84870997412 06/02/2012       19 Citations
  • Last update: 04/07/2024