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Andrea Gaedigk, PhD

TitleDirector, Pharmacogenetics Core Laboratory
InstitutionChildren's Mercy Kansas City
DepartmentPediatrics
Address2401 Gillham Rd
Kansas City MO 64108
ORCID ORCID Icon0000-0001-6968-1893 Additional info
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    Other Positions
    TitleProfessor
    InstitutionUniversity of Missouri-Kansas City
    DepartmentPediatrics

    TitleAdjunct Professor
    InstitutionUniversity of Missouri-Kansas City
    DepartmentPediatrics

    TitleAdjunct Professor
    InstitutionUniversity of Kansas Medical Center
    DepartmentPediatrics


    Collapse Biography 
    Collapse education and training
    University of Stuttgart, Stuttgart, GermanyMS1987Biology
    University of Stuttgart, Stuttgart, GermanyPhD1990Pharmacogentics
    Hospital for Sick Children, Toronto, CanadaFellowship1993Pharmacogentics

    Collapse Overview 

    Collapse Research 
    Collapse research overview
    Dr. Gaedigk's research interests focus on genes involved in drug metabolism, transport and response and how genetic variation can explain the wide ranges of variability that are observed for protein function among individuals. Since many drugs are metabolized by Cytochrome P450 enzymes, much of her work has revolved around CYP enzymes, in particular CYP2D6. During her career, she has characterized the CYP2D6 gene locus in many ethnically different populations, discovered numerous allelic variants and developed methods that reliably identify variant alleles. She is the PI of the Pharmacogene Variation Consortium (PharmVar), which provides PGx gene nomenclature by serving as a centralized “next Generation’ pharmacogene data repository. In this capacity, she closely working with the Pharmacogenomic Knowledgebase (PharmGKB) and the Clinical Pharmacogenetics Implementation Consortium (CPIC). Lastly, Dr. Gaedigk is also part of the GOLDILOKs initiative (Genomic- and Ontogeny-Linked Dose Individualization and cLinical Optimization for Kids) that seeks to better understand atomoxetine treatment for ADHD and develop clinical decision tools to optimize PGx-guided drug therapy.
    Collapse research activities and funding
    R01GM58647     (Bradford)Jan 3, 2000 - Sep 30, 2000
    NIGMS
    Polymorphism of CYP2D6 enzymes in African Americans
    Role Description: The award funded a comprehensive analysis of the major drug metabolizing enzyme cytochrome P450 2D6 in African Americans
    Role: Subcontract PI

    R01ES10855-05     (Mitchell)Aug 1, 2000 - Jul 31, 2005
    NIEHS
    Pharmacogenetic Determinants of Human Birth Defects
    Role Description: The award funded a characterization of the variability of drug biotransformation pathways in a “population” of prenatal tissues, and investigation of the genetic basis of the observed variability for application to specific drug-induced birth defects.
    Role: Co-Investigator

    U01HD44239-05     (Leeder)Jun 1, 2003 - May 31, 2008
    NICHD
    Ontogeny of Drug Bioactivation and Idiosyncratic ADRs
    Role Description: This investigation consists of a longitudinal “bioactivation” phenotyping study conducted in epileptic children routinely receiving CBZ or VPA for medical management of their disease involving NICHD PPRU sites. It is anticipated that the results of this program will allow critical periods of increased bioactivation and thus, potential vulnerability to idiosyncratic ADRs, to be identified for subsequent prospective investigations.
    Role: Co-Investigator

    U10HD31313     (Kearns)Jan 1, 2004 - Dec 31, 2009
    NICHD
    Children’s Center for Clinical Pharmacology Studies (Pediatric Pharmacology Research Unit)
    Role Description: The PPRU Network creates an infrastructure for designing, conducting, analyzing and reporting results from Phase I-II clinical trials of old and new drugs in collaboration with NICHD, FDA and the pharmaceutical industry to facilitate pediatric labeling.
    Role: Investigator

    R43CA110874-02     (Zakin)Sep 1, 2004 - Aug 31, 2006
    NCI
    Breath test to rapidly evaluate 2D6 enzyme activity
    Role Description: The goal of this project is to evaluate the utility of a dextromethorphan breath test using [13C] dextromethorphan and infrared spectrometry as a rapid, non-invasive phenotyping probe for CYP2D6 activity.
    Role: Co-Investigator

    HHSN275200403367C     (Blumer)Apr 1, 2005 - Mar 31, 2008
    NICHD
    Pediatric Off-Patient Study (PODS) Center for lorazepam sedation
    Role Description: The goal of this study is to characterize the pharmacodynamics and pharmacokinetics of lorazepam, midazolam and excipient alcohols from the parenteral formulations of lorazepam to include the pharmacogenetic component.
    Role: Co-Investigator

    R21AR053234-01     (Abdel-Rahman)Sep 20, 2005 - Aug 31, 2007
    NIAMS
    Evaluating Trichophyton tonsurans Carriage and Infection
    Role Description: This study is designed to evaluate whether fungal genetic strain types segregate with disease phenotype (e.g. infection vs. carriage).
    Role: Investigator

    HHSN267200603421C & N01-DK-6-3421     (Brunstrom)Aug 1, 2007 - Dec 31, 2009
    HHSN
    Use of oral Baclofen for Treatment of Cerebral Palsy in Children
    Role Description: The purpose of the subcontract is to provide genotyping services
    Role: Co-Investigator

    HHSF223200811308P     (Neville)Sep 30, 2008 - Aug 31, 2009
    HHSF
    Pharmacogenetics of Warfarin in Pediatrics Patients
    Role Description: The purpose of the study is to examine the relationship between warfarin dosing, CYP2C9 and VKORC1 polymorphisms, and patient demographic factors in order to develop a warfarin dosing algorithm that can be validated for pediatric patients.
    Role: Investigator

    1R01GM088076-01     (Skaar)Sep 30, 2009 - May 31, 2014
    NIGMS
    Regulation of drug metabolizing enzymes by miRNAs
    Role Description: This project aims to identify underlying mechanisms (beyond DNA sequence variations) that explain interindividual variability in drug metabolism by studying the role of small micro RNAs (miRNAs) on the regulation of drug metabolizing enzymes, in particular CYP2D6.
    Role: Subcontract PI

    R01HD058556-01A1     (Leeder)Apr 1, 2010 - Feb 28, 2015
    NICHD
    Exogenous and endogenous biomarkers of CYP2D6 variability in pediatrics
    Role Description: The goal of this proposal is to characterize the ontogeny of CYP2D6 activity during pre-adolescence and adolescence. A longitudinal study design allows inter- and intra-individual variability throughout this dynamic period of development to be characterized. Metabolomic approaches will also be employed to explore novel measures of CYP2D6 activity that can be used to guide medication use in this age-group.
    Role: Co-Investigator

    R01HD060543-01A1     (van den Anker)Apr 1, 2010 - Feb 28, 2016
    NICHD
    Metabolism and toxicity of preterm infants
    Role Description: Major goal of the study is to characterize the biotransformation and bioactivation of therapeutic doses of acetaminophen administered to premature infants. Included in the investigation is a novel metabolomics component and also, a pharmacogenomics component.
    Role: Co-investigator (subcontract PI for no-cost extension)

    T32HD069038-01     (Kearns)Jul 1, 2011 - Jun 30, 2016
    NICHD
    Research Fellowship Program in Pediatric Clinical/Developmental Pharmacology
    Role Description: The objective of this submission is to develop a new postdoctoral research fellowship program in Pediatric Clinical/Developmental Pharmacology.
    Role: Senior Mentor

    n/a     (Goldman)Jan 1, 2013 - Jan 1, 2014
    Marion Merrell Dow
    Variation of bioactivation and detoxification of trimethoprim in children
    Role Description: The goal of this study is to describe the variability of TMP metabolism in children and to characterize the role of age (ontogeny) and genetic variation as potential risk factors for developing an ADR to TMP-SMX.
    Role: Co-Investigator

    R01DA035736     (Cherner)Jul 1, 2013 - Jun 3, 2016
    NIHDA
    CYP2D6 Genotype and Neurocognitive Dysfunction in Methamphetamine Users with and without HIV
    Role Description: To determine in a retrospective clinical sample whether genetic polymorphisms coding for differences in methamphetamine metabolism are related to differences in cognitive sequelae among former methamphetamine addicts with and without HIV infection
    Role: Subcontract PI

    R01GM088076-05     (Skaar)Jun 1, 2014 - Feb 28, 2018
    NIGMS
    Regulation of drug metabolizing enzymes by miRNAs
    Role Description: Hepatic miRNAs regulate developmental changes and contribute to the interindividual variability in the expression of key drug metabolizing enzymes, and thereby, alter drug exposure. This proposals aims at understanding the functional impact of the developmental changes in hepatic miRNA expression on drug metabolism, to identify functional SNPs in miRNA target sites that alter drug metabolism, and to discover plasma miRNA patterns that predict hepatic drug metabolism. This should lead to a better understanding of the role of miRNAs in regulatory mechanisms of the developing liver; ultimately, we expect that it will improve the prediction of variability in drug metabolism across the developmental continuum.
    Role: Subcontract PI

    n/a     (Yin)Jul 1, 2014 - Jun 30, 2016
    Marion Merrell Dow
    Genetic variation and variability in posaconazole pharmacokinetics in children
    Role Description: Because of having weakened immune systems, children with blood cancers or bone marrow transplants often die from serious fungal infections. Posaconazole is a new antifungal drug that treats more types of fungi with fewer side effects, but we do not know either correct dosing for children or if giving personalized dosing would be better. This study would give information on how to dose posaconazole in children and suggest whether we need to personalize dosing by a child’s genes, age, or whether they have cancer or a transplant.
    Role: Co-investigator

    R01HD081299     (Prasad)Apr 1, 2015 - Feb 29, 2020
    NICHD
    PBPK prediction of ontogeny mediated alteration in hepatic drug elimination
    Role Description: This project aims at developing pediatric PBPK models for enzymes involved in drug metabolism, disposition and transport.
    Role: Co-Investigator

    T32HD069038-06     (Rahman/Leeder)May 1, 2016 - Apr 30, 2021
    NICHD
    Research Fellowship Program in Pediatric Clinical/Developmental Pharmacology
    Role Description: The objective of this submission is to develop a new postdoctoral research fellowship program in Pediatric Clinical/Developmental Pharmacology
    Role: Senior Mentor

    U54HD090258-01     (Leeder)Sep 23, 2016 - Jun 30, 2021
    NICHD
    GOLDILOKs: Genomic- and Ontogeny-Linked Dose Individualization and CLinical Optimization for Kids
    Role Description: This application was submitted for consideration as a Specialized Center for Research in Pediatric Developmental Pharmacology (RPDP). The goal of the GOLDILOKs program is to investigate the role of ontogeny and genetic variation at the level of drug response. It is based on the concept of response –exposure-dose wherein the desired response is established, the exposure necessary to achieve that exposure for a given patient is determined, and then the dose to achieve that exposure for the individual patient is identified. Essential to this process is the development of drug dosing algorithms to standardize drug exposure such that factor contributing to variability in drug response at the level of the drug target can be identified.
    Role: Investigator (Project PI)

    1R249357829     (Gaedigk)Aug 1, 2017 - Jul 31, 2020
    NIGMS
    Pharmacogene Variation Consortium
    Role Description: In this proposal we outline a plan for a Pharmacogene Variation (PharmVar) Consortium that will establish a critical resource for researchers and clinical professionals. The PharmVar Consortium will serve as a central repository for information facilitating the interpretation of pharmacogenetic test results to guide individualized drug therapy.
    Role: PI

    K12 NTRAIN     (McLaughlin)Feb 19, 2019 - Feb 18, 2021
    NIH
    Precision Medicine in Pediatric Rehabilitation - Variability in Oral Baclofen Exposure and Response
    Role: Mentor

    Collapse Bibliography 
    Collapse selected publications
    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.
    List All   |   Timeline
    1. Wagner JB, Abdel-Rahman S, Gaedigk A, Gaedigk R, Raghuveer G, Staggs VS, Van Haandel L, Steven Leeder J. Impact of SLCO1B1 genetic variation on rosuvastatin systemic exposure in pediatric hypercholesterolemia. Clin Transl Sci. 2020 Jan 25. PMID: 31981411.
      View in: PubMed
    2. Chamnanphon M, Gaedigk A, Puangpetch A, Pasomsub E, Chantratita W, Longley RJ, Sattabongkot J, Chariyavilaskul P, Sukasem C. Pharmacogene Variation in Thai Plasmodium vivax Relapse Patients Treated with a Combination of Primaquine and Chloroquine. Pharmgenomics Pers Med. 2020; 13:1-12. PMID: 32021383.
      View in: PubMed
    3. Zhang H, Basit A, Wolford C, Chen KF, Gaedigk A, Lin YS, Leeder JS, Prasad B. Normalized testosterone glucuronide (TG/AG) as a potential urinary biomarker for highly variable UGT2B17 in children 7 to 18 years. Clin Pharmacol Ther. 2020 Jan 03. PMID: 31900930.
      View in: PubMed
    4. 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. PharmVar GeneFocus: CYP2D6. Clin Pharmacol Ther. 2020 Jan; 107(1):154-170. PMID: 31544239.
      View in: PubMed
    5. Gaedigk A, Whirl-Carrillo M, Pratt VM, Miller NA, Klein TE. PharmVar and the Landscape of Pharmacogenetic Resources. Clin Pharmacol Ther. 2020 Jan; 107(1):43-46. PMID: 31758698.
      View in: PubMed
    6. Boronat A, Mateus J, Soldevila-Domenech N, Guerra M, Rodríguez-Morató J, Varon C, Muñoz D, Barbosa F, Morales JC, Gaedigk A, Langohr K, Covas MI, Pérez-Mañá C, Fitó M, Tyndale RF, de la Torre R. Data on the endogenous conversion of tyrosol into hydroxytyrosol in humans. Data Brief. 2019 Dec; 27:104787. PMID: 31788516.
      View in: PubMed
    7. Botton MR, Lu X, Zhao G, Repnikova E, Seki Y, Gaedigk A, Schadt EE, Edelmann L, Scott SA. Structural variation at the CYP2C locus: Characterization of deletion and duplication alleles. Hum Mutat. 2019 11; 40(11):e37-e51. PMID: 31260137.
      View in: PubMed
    8. Hicks JK, Bishop JR, Gammal RS, Sangkuhl K, Bousman CA, Leeder JS, Llerena A, Mueller DJ, Ramsey LB, Scott SA, Skaar TC, Caudle KE, Klein TE, Gaedigk A. A Call for Clear and Consistent Communications Regarding the Role of Pharmacogenetics in Antidepressant Pharmacotherapy. Clin Pharmacol Ther. 2020 Jan; 107(1):50-52. PMID: 31664715.
      View in: PubMed
    9. Dalton R, Lee SB, Claw KG, Prasad B, Phillips BR, Shen DD, Wong LH, Fade M, McDonald MG, Dunham MJ, Fowler DM, Rettie AE, Schuetz E, Thornton TA, Nickerson DA, Gaedigk A, Thummel KE, Woodahl EL. Interrogation of CYP2D6 Structural Variant Alleles Improves the Correlation Between CYP2D6 Genotype and CYP2D6-Mediated Metabolic Activity. Clin Transl Sci. 2020 Jan; 13(1):147-156. PMID: 31536170.
      View in: PubMed
    10. Caudle KE, Sangkuhl K, Whirl-Carrillo M, Swen JJ, Haidar CE, Klein TE, Gammal RS, Relling MV, Scott SA, Hertz DL, Guchelaar HJ, Gaedigk A. Standardizing CYP2D6 Genotype to Phenotype Translation: Consensus Recommendations from the Clinical Pharmacogenetics Implementation Consortium and Dutch Pharmacogenetics Working Group. Clin Transl Sci. 2020 Jan; 13(1):116-124. PMID: 31647186.
      View in: PubMed
    11. Boronat A, Mateus J, Soldevila-Domenech N, Guerra M, Rodríguez-Morató J, Varon C, Muñoz D, Barbosa F, Morales JC, Gaedigk A, Langohr K, Covas MI, Pérez-Mañá C, Fitó M, Tyndale RF, de la Torre R. Cardiovascular benefits of tyrosol and its endogenous conversion into hydroxytyrosol in humans. A randomized, controlled trial. Free Radic Biol Med. 2019 Nov 01; 143:471-481. PMID: 31479717.
      View in: PubMed
    12. Gaedigk A, Turner A, Everts RE, Scott SA, Aggarwal P, Broeckel U, McMillin GA, Melis R, Boone EC, Pratt VM, Kalman LV. Characterization of Reference Materials for Genetic Testing of CYP2D6 Alleles: A GeT-RM Collaborative Project. J Mol Diagn. 2019 Nov; 21(6):1034-1052. PMID: 31401124.
      View in: PubMed
    13. Gaedigk A. Pharmacogenetics: Chasing Perfection. Clin Pharmacol Ther. 2019 Aug; 106(2):265-270. PMID: 31355458.
      View in: PubMed
    14. Desta Z, Gammal RS, Gong L, Whirl-Carrillo M, Gaur AH, Sukasem C, Hockings J, Myers A, Swart M, Tyndale RF, Masimirembwa C, Iwuchukwu OF, Chirwa S, Lennox J, Gaedigk A, Klein TE, Haas DW. Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2B6 and Efavirenz-Containing Antiretroviral Therapy. Clin Pharmacol Ther. 2019 Oct; 106(4):726-733. PMID: 31006110.
      View in: PubMed
    15. Ladumor MK, Bhatt DK, Gaedigk A, Sharma S, Thakur A, Pearce RE, Leeder JS, Bolger MB, Singh S, Prasad B. Ontogeny of Hepatic Sulfotransferases and Prediction of Age-Dependent Fractional Contribution of Sulfation in Acetaminophen Metabolism. Drug Metab Dispos. 2019 08; 47(8):818-831. PMID: 31101678.
      View in: PubMed
    16. Brown JT, Bishop JR, Sangkuhl K, Nurmi EL, Mueller DJ, Dinh JC, Gaedigk A, Klein TE, Caudle KE, McCracken JT, de Leon J, Leeder JS. Clinical Pharmacogenetics Implementation Consortium Guideline for Cytochrome P450 (CYP)2D6 Genotype and Atomoxetine Therapy. Clin Pharmacol Ther. 2019 Jul; 106(1):94-102. PMID: 30801677.
      View in: PubMed
    17. Wagner JB, Abdel-Rahman S, Gaedigk R, Gaedigk A, Raghuveer G, Staggs VS, Kauffman R, Van Haandel L, Leeder JS. Impact of Genetic Variation on Pravastatin Systemic Exposure in Pediatric Hypercholesterolemia. Clin Pharmacol Ther. 2019 Jun; 105(6):1501-1512. PMID: 30549267.
      View in: PubMed
    18. Gaedigk A, Sangkuhl K, Whirl-Carrillo M, Twist GP, Klein TE, Miller NA. The Evolution of PharmVar. Clin Pharmacol Ther. 2019 01; 105(1):29-32. PMID: 30536702.
      View in: PubMed
    19. Qiao W, Martis S, Mendiratta G, Shi L, Botton MR, Yang Y, Gaedigk A, Vijzelaar R, Edelmann L, Kornreich R, Desnick RJ, Scott SA. Integrated CYP2D6 interrogation for multiethnic copy number and tandem allele detection. Pharmacogenomics. 2019 01; 20(1):9-20. PMID: 30730286.
      View in: PubMed
    20. Claudio-Campos KI, González-Santiago P, Renta JY, Rodríguez J, Carrasquillo K, Gaedigk A, Roche A, Ducongé J. CYP2C9*61, a rare missense variant identified in a Puerto Rican patient with low warfarin dose requirements. Pharmacogenomics. 2019 01; 20(1):3-8. PMID: 30518301.
      View in: PubMed
    21. Yang JJ, Whirl-Carrillo M, Scott SA, Turner AJ, Schwab M, Tanaka Y, Suarez-Kurtz G, Schaeffeler E, Klein TE, Miller NA, Gaedigk A. Pharmacogene Variation Consortium Gene Introduction: NUDT15. Clin Pharmacol Ther. 2019 05; 105(5):1091-1094. PMID: 30515762.
      View in: PubMed
    22. Gammal RS, Caudle KE, Quinn CT, Wang WC, Gaedigk A, Prows CA, Haidar CE, Taylor AK, Klein TE, Sangkuhl K, Hankins JS, Crews KR. The Case for Pharmacogenetics-Guided Prescribing of Codeine in Children. Clin Pharmacol Ther. 2019 Jun; 105(6):1300-1302. PMID: 30467830.
      View in: PubMed
    23. Linakis MW, Cook SF, Kumar SS, Liu X, Wilkins DG, Gaedigk R, Gaedigk A, Sherwin CMT, van den Anker JN. Polymorphic Expression of UGT1A9 is Associated with Variable Acetaminophen Glucuronidation in Neonates: A Population Pharmacokinetic and Pharmacogenetic Study. Clin Pharmacokinet. 2018 10; 57(10):1325-1336. PMID: 29654492.
      View in: PubMed
    24. Shakhnovich V, Abdel-Rahman S, Friesen CA, Weigel J, Pearce RE, Gaedigk A, Leeder JS, Kearns GL. Lean body weight dosing avoids excessive systemic exposure to proton pump inhibitors for children with obesity. Pediatr Obes. 2019 01; 14(1). PMID: 30257076.
      View in: PubMed
    25. Bhatt DK, Mehrotra A, Gaedigk A, Chapa R, Basit A, Zhang H, Choudhari P, Boberg M, Pearce RE, Gaedigk R, Broeckel U, Leeder JS, Prasad B. Age- and Genotype-Dependent Variability in the Protein Abundance and Activity of Six Major Uridine Diphosphate-Glucuronosyltransferases in Human Liver. Clin Pharmacol Ther. 2019 01; 105(1):131-141. PMID: 29737521.
      View in: PubMed
    26. Chamnanphon M, Gaedigk A, Vanwong N, Nuntamool N, Hongkaew Y, Puangpetch A, Sukasem C. CYP2D6 genotype analysis of a Thai population: platform comparison. Pharmacogenomics. 2018 08 01; 19(12):947-960. PMID: 29992861.
      View in: PubMed
    27. Ipe J, Collins KS, Hao Y, Gao H, Bhatia P, Gaedigk A, Liu Y, Skaar TC. PASSPORT-seq: A Novel High-Throughput Bioassay to Functionally Test Polymorphisms in Micro-RNA Target Sites. Front Genet. 2018; 9:219. PMID: 29963077.
      View in: PubMed
    28. Lee SB, Wheeler MM, Patterson K, McGee S, Dalton R, Woodahl EL, Gaedigk A, Thummel KE, Nickerson DA. Stargazer: a software tool for calling star alleles from next-generation sequencing data using CYP2D6 as a model. Genet Med. 2019 02; 21(2):361-372. PMID: 29875422.
      View in: PubMed
    29. Gaedigk A, Dinh JC, Jeong H, Prasad B, Leeder JS. Ten Years' Experience with the CYP2D6 Activity Score: A Perspective on Future Investigations to Improve Clinical Predictions for Precision Therapeutics. J Pers Med. 2018 Apr 17; 8(2). PMID: 29673183.
      View in: PubMed
    30. Bhatt DK, Basit A, Zhang H, Gaedigk A, Lee SB, Claw KG, Mehrotra A, Chaudhry AS, Pearce RE, Gaedigk R, Broeckel U, Thornton TA, Nickerson DA, Schuetz EG, Amory JK, Leeder JS, Prasad B. Hepatic Abundance and Activity of Androgen- and Drug-Metabolizing Enzyme UGT2B17 Are Associated with Genotype, Age, and Sex. Drug Metab Dispos. 2018 06; 46(6):888-896. PMID: 29602798.
      View in: PubMed
    31. Wagner JB, Abdel-Rahman S, Van Haandel L, Gaedigk A, Gaedigk R, Raghuveer G, Kauffman R, Leeder JS. Impact of SLCO1B1 Genotype on Pediatric Simvastatin Acid Pharmacokinetics. J Clin Pharmacol. 2018 06; 58(6):823-833. PMID: 29469964.
      View in: PubMed
    32. Goetz MP, Sangkuhl K, Guchelaar HJ, Schwab M, Province M, Whirl-Carrillo M, Symmans WF, McLeod HL, Ratain MJ, Zembutsu H, Gaedigk A, van Schaik RH, Ingle JN, Caudle KE, Klein TE. Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6 and Tamoxifen Therapy. Clin Pharmacol Ther. 2018 05; 103(5):770-777. PMID: 29385237.
      View in: PubMed
    33. Montané Jaime LK, Paul J, Lalla A, Legall G, Gaedigk A. Impact of CYP2D6 on venlafaxine metabolism in Trinidadian patients with major depressive disorder. Pharmacogenomics. 2018 02; 19(3):197-212. PMID: 29327975.
      View in: PubMed
    34. Shah RR, Gaedigk A. Precision medicine: does ethnicity information complement genotype-based prescribing decisions? Ther Adv Drug Saf. 2018 Jan; 9(1):45-62. PMID: 29318005.
      View in: PubMed
    35. Gaedigk A, Ingelman-Sundberg M, Miller NA, Leeder JS, Whirl-Carrillo M, Klein TE. The Pharmacogene Variation (PharmVar) Consortium: Incorporation of the Human Cytochrome P450 (CYP) Allele Nomenclature Database. Clin Pharmacol Ther. 2018 03; 103(3):399-401. PMID: 29134625.
      View in: PubMed
    36. Burgess KS, Ipe J, Swart M, Metzger IF, Lu J, Gufford BT, Thong N, Desta Z, Gaedigk R, Pearce RE, Gaedigk A, Liu Y, Skaar TC. Variants in the CYP2B6 3'UTR Alter In Vitro and In Vivo CYP2B6 Activity: Potential Role of MicroRNAs. Clin Pharmacol Ther. 2018 07; 104(1):130-138. PMID: 28960269.
      View in: PubMed
    37. McLaughlin MJ, He Y, Brunstrom-Hernandez J, Thio LL, Carleton BC, Ross CJD, Gaedigk A, Lewandowski A, Dai H, Jusko WJ, Leeder JS. Pharmacogenomic Variability of Oral Baclofen Clearance and Clinical Response in Children With Cerebral Palsy. PM R. 2018 03; 10(3):235-243. PMID: 28867665.
      View in: PubMed
    38. Xu M, Bhatt DK, Yeung CK, Claw KG, Chaudhry AS, Gaedigk A, Pearce RE, Broeckel U, Gaedigk R, Nickerson DA, Schuetz E, Rettie AE, Leeder JS, Thummel KE, Prasad B. Genetic and Nongenetic Factors Associated with Protein Abundance of Flavin-Containing Monooxygenase 3 in Human Liver. J Pharmacol Exp Ther. 2017 11; 363(2):265-274. PMID: 28819071.
      View in: PubMed
    39. Bérard A, Gaedigk A, Sheehy O, Chambers C, Roth M, Bozzo P, Johnson D, Kao K, Lavigne S, Wolfe L, Quinn D, Dieter K, Zhao JP. Association between CYP2D6 Genotypes and the Risk of Antidepressant Discontinuation, Dosage Modification and the Occurrence of Maternal Depression during Pregnancy. Front Pharmacol. 2017; 8:402. PMID: 28769788.
      View in: PubMed
    40. Dodgen TM, De J Labuschagne C, van Schalkwyk A, Steffens FE, Gaedigk A, Cromarty AD, Alessandrini M, Pepper MS. Pharmacogenetic comparison of CYP2D6 predictive and measured phenotypes in a South African cohort. Pharmacogenomics J. 2017 Jul; 17(4):393. PMID: 28729716.
      View in: PubMed
    41. Bhatt DK, Gaedigk A, Pearce RE, Leeder JS, Prasad B. Age-dependent Protein Abundance of Cytosolic Alcohol and Aldehyde Dehydrogenases in Human Liver. Drug Metab Dispos. 2017 09; 45(9):1044-1048. PMID: 28607029.
      View in: PubMed
    42. Claudio-Campos K, Labastida A, Ramos A, Gaedigk A, Renta-Torres J, Padilla D, Rivera-Miranda G, Scott SA, Ruaño G, Cadilla CL, Duconge-Soler J. Warfarin Anticoagulation Therapy in Caribbean Hispanics of Puerto Rico: A Candidate Gene Association Study. Front Pharmacol. 2017; 8:347. PMID: 28638342.
      View in: PubMed
    43. Bell GC, Caudle KE, Whirl-Carrillo M, Gordon RJ, Hikino K, Prows CA, Gaedigk A, Agundez J, Sadhasivam S, Klein TE, Schwab M. Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for CYP2D6 genotype and use of ondansetron and tropisetron. Clin Pharmacol Ther. 2017 08; 102(2):213-218. PMID: 28002639.
      View in: PubMed
    44. Chaudhry M, Alessandrini M, Rademan J, Dodgen TM, Steffens FE, van Zyl DG, Gaedigk A, Pepper MS. Impact of CYP2D6 genotype on amitriptyline efficacy for the treatment of diabetic peripheral neuropathy: a pilot study. Pharmacogenomics. 2017 Apr; 18(5):433-443. PMID: 28350251.
      View in: PubMed
    45. Gaedigk A, Twist GP, Farrow EG, Lowry JA, Soden SE, Miller NA. In vivo characterization of CYP2D6*12, *29 and *84 using dextromethorphan as a probe drug: a case report. Pharmacogenomics. 2017 Apr; 18(5):427-431. PMID: 28290770.
      View in: PubMed
    46. Hicks JK, Sangkuhl K, Swen JJ, Ellingrod VL, Müller DJ, Shimoda K, Bishop JR, Kharasch ED, Skaar TC, Gaedigk A, Dunnenberger HM, Klein TE, Caudle KE, Stingl JC. Clinical pharmacogenetics implementation consortium guideline (CPIC) for CYP2D6 and CYP2C19 genotypes and dosing of tricyclic antidepressants: 2016 update. Clin Pharmacol Ther. 2017 07; 102(1):37-44. PMID: 27997040.
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    128. Ma JD, Nafziger AN, Villano SA, Gaedigk A, Bertino JS. Maribavir pharmacokinetics and the effects of multiple-dose maribavir on cytochrome P450 (CYP) 1A2, CYP 2C9, CYP 2C19, CYP 2D6, CYP 3A, N-acetyltransferase-2, and xanthine oxidase activities in healthy adults. Antimicrob Agents Chemother. 2006 Apr; 50(4):1130-5. PMID: 16569820.
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    129. Gaedigk A, Leeder JS. Comments on Hoskins et al. [(2005) drug metab dispos 33:1564-1565]. Drug Metab Dispos. 2006 Mar; 34(3):504-5; author reply 506. PMID: 16495382.
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    130. Gaedigk A, Bradford LD, Alander SW, Leeder JS. CYP2D6*36 gene arrangements within the cyp2d6 locus: association of CYP2D6*36 with poor metabolizer status. Drug Metab Dispos. 2006 Apr; 34(4):563-9. PMID: 16415111.
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    131. Shelepova T, Nafziger AN, Victory J, Kashuba AD, Rowland E, Zhang Y, Sellers E, Kearns G, Leeder JS, Gaedigk A, Bertino JS. Effect of a triphasic oral contraceptive on drug-metabolizing enzyme activity as measured by the validated Cooperstown 5+1 cocktail. J Clin Pharmacol. 2005 Dec; 45(12):1413-21. PMID: 16291717.
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    132. Luo HR, Gaedigk A, Aloumanis V, Wan YJ. Identification of CYP2D6 impaired functional alleles in Mexican Americans. Eur J Clin Pharmacol. 2005 Dec; 61(11):797-802. PMID: 16283274.
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    133. Gaedigk A, Gaedigk R, Leeder JS. CYP2D7 splice variants in human liver and brain: does CYP2D7 encode functional protein? Biochem Biophys Res Commun. 2005 Nov 04; 336(4):1241-50. PMID: 16169517.
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    134. Leeder JS, Gaedigk R, Marcucci KA, Gaedigk A, Vyhlidal CA, Schindel BP, Pearce RE. Variability of CYP3A7 expression in human fetal liver. J Pharmacol Exp Ther. 2005 Aug; 314(2):626-35. PMID: 15845858.
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    135. Gaedigk A, Ndjountché L, Leeder JS, Bradford LD. Limited association of the 2988g > a single nucleotide polymorphism with CYP2D641 in black subjects. Clin Pharmacol Ther. 2005 Mar; 77(3):228-30; author reply 230-1. PMID: 15735618.
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    136. Gaedigk A, Bhathena A, Ndjountché L, Pearce RE, Abdel-Rahman SM, Alander SW, Bradford LD, Rogan PK, Leeder JS. Identification and characterization of novel sequence variations in the cytochrome P4502D6 (CYP2D6) gene in African Americans. Pharmacogenomics J. 2005; 5(3):173-82. PMID: 15768052.
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    137. Zineh I, Beitelshees AL, Gaedigk A, Walker JR, Pauly DF, Eberst K, Leeder JS, Phillips MS, Gelfand CA, Johnson JA. Pharmacokinetics and CYP2D6 genotypes do not predict metoprolol adverse events or efficacy in hypertension. Clin Pharmacol Ther. 2004 Dec; 76(6):536-44. PMID: 15592325.
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    138. Kim MJ, Nafziger AN, Zhang Y, Sellers EM, Gaedigk A, Bertino JS. Lack of weight-based dose dependency and intraindividual variability of omeprazole for CYP2C19 phenotyping. J Clin Pharmacol. 2004 Sep; 44(9):966-73. PMID: 15317824.
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    139. Lim ML, Min SS, Eron JJ, Bertz RJ, Robinson M, Gaedigk A, Kashuba AD. Coadministration of lopinavir/ritonavir and phenytoin results in two-way drug interaction through cytochrome P-450 induction. J Acquir Immune Defic Syndr. 2004 Aug 15; 36(5):1034-40. PMID: 15247556.
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    140. Ma JD, Nafziger AN, Kashuba AD, Kim MJ, Gaedigk A, Rowland E, Kim JS, Bertino JS. Limited sampling strategy of S-warfarin concentrations, but not warfarin S/R ratios, accurately predicts S-warfarin AUC during baseline and inhibition in CYP2C9 extensive metabolizers. J Clin Pharmacol. 2004 Jun; 44(6):570-6. PMID: 15145963.
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    141. Kennedy MJ, Scripture CD, Kashuba AD, Scott CS, Gaedigk A, Kearns GL. Activities of cytochrome P450 1A2, N-acetyltransferase 2, xanthine oxidase, and cytochrome P450 2D6 are unaltered in children with cystic fibrosis. Clin Pharmacol Ther. 2004 Mar; 75(3):163-71. PMID: 15001967.
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    142. Gaedigk A, Gaedigk R, Abdel-Rahman SM. Genetic Heterogeneity in the rRNA Gene Locus of Trichophyton tonsurans. J Clin Microbiol. 2003 Dec; 41(12):5478-87. PMID: 14662928.
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    143. Chainuvati S, Nafziger AN, Leeder JS, Gaedigk A, Kearns GL, Sellers E, Zhang Y, Kashuba AD, Rowland E, Bertino JS. Combined phenotypic assessment of cytochrome p450 1A2, 2C9, 2C19, 2D6, and 3A, N-acetyltransferase-2, and xanthine oxidase activities with the "Cooperstown 5+1 cocktail". Clin Pharmacol Ther. 2003 Nov; 74(5):437-47. PMID: 14586384.
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    144. Kearns GL, Andersson T, James LP, Gaedigk A, Kraynak RA, Abdel-Rahman SM, Ramabadran K, van den Anker JN. Omeprazole disposition in children following single-dose administration. J Clin Pharmacol. 2003 Aug; 43(8):840-8. PMID: 12953341.
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    145. Sugamori KS, Wong S, Gaedigk A, Yu V, Abramovici H, Rozmahel R, Grant DM. Generation and functional characterization of arylamine N-acetyltransferase Nat1/Nat2 double-knockout mice. Mol Pharmacol. 2003 Jul; 64(1):170-9. PMID: 12815173.
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    146. Gaedigk A, Ryder DL, Bradford LD, Leeder JS. CYP2D6 poor metabolizer status can be ruled out by a single genotyping assay for the -1584G promoter polymorphism. Clin Chem. 2003 Jun; 49(6 Pt 1):1008-11. PMID: 12766015.
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    147. Gaedigk A, Ndjountché L, Gaedigk R, Leeder JS, Bradford LD. Discovery of a novel nonfunctional cytochrome P450 2D6 allele, CYP2D642, in African American subjects. Clin Pharmacol Ther. 2003 Jun; 73(6):575-6. PMID: 12811367.
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    148. Lam YW, Gaedigk A, Ereshefsky L, Alfaro CL, Simpson J. CYP2D6 inhibition by selective serotonin reuptake inhibitors: analysis of achievable steady-state plasma concentrations and the effect of ultrarapid metabolism at CYP2D6. Pharmacotherapy. 2002 Aug; 22(8):1001-6. PMID: 12173784.
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    149. Kim MJ, Bertino JS, Gaedigk A, Zhang Y, Sellers EM, Nafziger AN. Effect of sex and menstrual cycle phase on cytochrome P450 2C19 activity with omeprazole used as a biomarker. Clin Pharmacol Ther. 2002 Aug; 72(2):192-9. PMID: 12189366.
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    150. Gaedigk A, Bradford LD, Marcucci KA, Leeder JS. Unique CYP2D6 activity distribution and genotype-phenotype discordance in black Americans. Clin Pharmacol Ther. 2002 Jul; 72(1):76-89. PMID: 12152006.
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    151. Marcucci KA, Pearce RE, Crespi C, Steimel DT, Leeder JS, Gaedigk A. Characterization of cytochrome P450 2D6.1 (CYP2D6.1), CYP2D6.2, and CYP2D6.17 activities toward model CYP2D6 substrates dextromethorphan, bufuralol, and debrisoquine. Drug Metab Dispos. 2002 May; 30(5):595-601. PMID: 11950793.
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    152. Abdel-Rahman SM, Leeder JS, Wilson JT, Gaedigk A, Gotschall RR, Medve R, Liao S, Spielberg SP, Kearns GL. Concordance between tramadol and dextromethorphan parent/metabolite ratios: the influence of CYP2D6 and non-CYP2D6 pathways on biotransformation. J Clin Pharmacol. 2002 Jan; 42(1):24-9. PMID: 11808821.
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    153. Gaedigk A, Casley WL, Tyndale RF, Sellers EM, Jurima-Romet M, Leeder JS. Cytochrome P4502C9 (CYP2C9) allele frequencies in Canadian Native Indian and Inuit populations. Can J Physiol Pharmacol. 2001 Oct; 79(10):841-7. PMID: 11697742.
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    154. Kim JS, Nafziger AN, Gaedigk A, Dickmann LJ, Rettie AE, Bertino JS. Effects of oral vitamin K on S- and R-warfarin pharmacokinetics and pharmacodynamics: enhanced safety of warfarin as a CYP2C9 probe. J Clin Pharmacol. 2001 Jul; 41(7):715-22. PMID: 11452703.
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    155. Streetman DS, Bleakley JF, Kim JS, Nafziger AN, Leeder JS, Gaedigk A, Gotschall R, Kearns GL, Bertino JS. Combined phenotypic assessment of CYP1A2, CYP2C19, CYP2D6, CYP3A, N-acetyltransferase-2, and xanthine oxidase with the "Cooperstown cocktail". Clin Pharmacol Ther. 2000 Oct; 68(4):375-83. PMID: 11061577.
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    156. Windmill KF, Gaedigk A, Hall PM, Samaratunga H, Grant DM, McManus ME. Localization of N-acetyltransferases NAT1 and NAT2 in human tissues. Toxicol Sci. 2000 Mar; 54(1):19-29. PMID: 10746928.
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    157. Gaedigk A. Interethnic differences of drug-metabolizing enzymes. Int J Clin Pharmacol Ther. 2000 Feb; 38(2):61-8. PMID: 10706192.
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    158. Gaedigk A, Gotschall RR, Forbes NS, Simon SD, Kearns GL, Leeder JS. Optimization of cytochrome P4502D6 (CYP2D6) phenotype assignment using a genotyping algorithm based on allele frequency data. Pharmacogenetics. 1999 Dec; 9(6):669-82. PMID: 10634130.
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    159. Streetman DS, Ellis RE, Nafziger AN, Leeder JS, Gaedigk A, Gotschall R, Kearns GL, Bertino JS. Dose dependency of dextromethorphan for cytochrome P450 2D6 (CYP2D6) phenotyping. Clin Pharmacol Ther. 1999 Nov; 66(5):535-41. PMID: 10579482.
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    160. Bidwell LM, McManus ME, Gaedigk A, Kakuta Y, Negishi M, Pedersen L, Martin JL. Crystal structure of human catecholamine sulfotransferase. J Mol Biol. 1999 Oct 29; 293(3):521-30. PMID: 10543947.
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    161. Kashuba AD, Nafziger AN, Kearns GL, Leeder JS, Gotschall R, Gaedigk A, Bertino JS. Limitations of dextromethorphan N-demethylation as a measure of CYP3A activity. Pharmacogenetics. 1999 Aug; 9(4):453-62. PMID: 10780265.
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    162. Brix LA, Duggleby RG, Gaedigk A, McManus ME. Structural characterization of human aryl sulphotransferases. Biochem J. 1999 Jan 15; 337 ( Pt 2):337-43. PMID: 9882633.
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    163. Kashuba AD, Nafziger AN, Kearns GL, Leeder JS, Shirey CS, Gotschall R, Gaedigk A, Bertino JS. Quantification of intraindividual variability and the influence of menstrual cycle phase on CYP2D6 activity as measured by dextromethorphan phenotyping. Pharmacogenetics. 1998 Oct; 8(5):403-10. PMID: 9825832.
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    164. Gaedigk A, Tyndale RF, Jurima-Romet M, Sellers EM, Grant DM, Leeder JS. NAD(P)H:quinone oxidoreductase: polymorphisms and allele frequencies in Caucasian, Chinese and Canadian Native Indian and Inuit populations. Pharmacogenetics. 1998 Aug; 8(4):305-13. PMID: 9731717.
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    165. Droll K, Bruce-Mensah K, Otton SV, Gaedigk A, Sellers EM, Tyndale RF. Comparison of three CYP2D6 probe substrates and genotype in Ghanaians, Chinese and Caucasians. Pharmacogenetics. 1998 Aug; 8(4):325-33. PMID: 9731719.
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    166. Henne KR, Gaedigk A, Gupta G, Leeder JS, Rettie AE. Chiral phase analysis of warfarin enantiomers in patient plasma in relation to CYP2C9 genotype. J Chromatogr B Biomed Sci Appl. 1998 Jun 12; 710(1-2):143-8. PMID: 9686881.
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    167. Leeder JS, Lu X, Timsit Y, Gaedigk A. Non-monooxygenase cytochromes P450 as potential human autoantigens in anticonvulsant hypersensitivity reactions. Pharmacogenetics. 1998 Jun; 8(3):211-25. PMID: 9682267.
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    168. Gaedigk A, Lekas P, Berchuk M, Grant DM. Novel sulfotransferases cloned by RT-PCR: real proteins or PCR artifacts? Chem Biol Interact. 1998 Feb 20; 109(1-3):43-52. PMID: 9566732.
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    169. Bidwell LM, Gillam EM, Gaedigk A, Zhu X, Grant D, McManus ME. Bacterial expression of two human aryl sulfotransferases. Chem Biol Interact. 1998 Feb 20; 109(1-3):137-41. PMID: 9566741.
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    170. Griese EU, Zanger UM, Brudermanns U, Gaedigk A, Mikus G, Mörike K, Stüven T, Eichelbaum M. Assessment of the predictive power of genotypes for the in-vivo catalytic function of CYP2D6 in a German population. Pharmacogenetics. 1998 Feb; 8(1):15-26. PMID: 9511177.
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    171. Bradford LD, Gaedigk A, Leeder JS. High frequency of CYP2D6 poor and "intermediate" metabolizers in black populations: a review and preliminary data. Psychopharmacol Bull. 1998; 34(4):797-804. PMID: 10513455.
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    172. Gaedigk A, Leeder JS, Grant DM. Tissue-specific expression and alternative splicing of human microsomal epoxide hydrolase. DNA Cell Biol. 1997 Nov; 16(11):1257-66. PMID: 9406998.
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    173. Grant DM, Hughes NC, Janezic SA, Goodfellow GH, Chen HJ, Gaedigk A, Yu VL, Grewal R. Human acetyltransferase polymorphisms. Mutat Res. 1997 May 12; 376(1-2):61-70. PMID: 9202739.
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    174. Windmill KF, McKinnon RA, Zhu X, Gaedigk A, Grant DM, McManus ME. The role of xenobiotic metabolizing enzymes in arylamine toxicity and carcinogenesis: functional and localization studies. Mutat Res. 1997 May 12; 376(1-2):153-60. PMID: 9202751.
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    175. Gaedigk A, Beatty BG, Grant DM. Cloning, structural organization, and chromosomal mapping of the human phenol sulfotransferase STP2 gene. Genomics. 1997 Mar 01; 40(2):242-6. PMID: 9119390.
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    176. Leeder JS, Gaedigk A, Lu X, Cook VA. Epitope mapping studies with human anti-cytochrome P450 3A antibodies. Mol Pharmacol. 1996 Feb; 49(2):234-43. PMID: 8632755.
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    177. Green VJ, Pirmohamed M, Kitteringham NR, Gaedigk A, Grant DM, Boxer M, Burchell B, Park BK. Genetic analysis of microsomal epoxide hydrolase in patients with carbamazepine hypersensitivity. Biochem Pharmacol. 1995 Oct 26; 50(9):1353-9. PMID: 7503783.
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    178. Gaedigk A, Spielberg SP, Grant DM. Characterization of the microsomal epoxide hydrolase gene in patients with anticonvulsant adverse drug reactions. Pharmacogenetics. 1994 Jun; 4(3):142-53. PMID: 7920694.
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    179. Broly F, Gaedigk A, Heim M, Eichelbaum M, Morike K, Meyer UA. Debrisoquine/sparteine hydroxylation genotype and phenotype: analysis of common mutations and alleles of CYP2D6 in a European population. DNA Cell Biol. 1991 Oct; 10(8):545-58. PMID: 1681816.
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    180. Gaedigk A, Blum M, Gaedigk R, Eichelbaum M, Meyer UA. Deletion of the entire cytochrome P450 CYP2D6 gene as a cause of impaired drug metabolism in poor metabolizers of the debrisoquine/sparteine polymorphism. Am J Hum Genet. 1991 May; 48(5):943-50. PMID: 1673290.
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    181. Gough AC, Miles JS, Spurr NK, Moss JE, Gaedigk A, Eichelbaum M, Wolf CR. Identification of the primary gene defect at the cytochrome P450 CYP2D locus. Nature. 1990 Oct 25; 347(6295):773-6. PMID: 1978251.
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