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Andrea Gaedigk, PhD, MS

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 of Pediatrics
    InstitutionUniversity of Missouri-Kansas City
    DepartmentPediatrics

    TitleAdjunct Associate Professor of Clinical Laboratory Sciences
    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. Dr Gaedigk is the Director 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 is also closely working with the Pharmacogenomic Knowledgebase (PharmGKB), a globally renown pharmacogenetics resource. Furthermore, her pharmacogenomic expertise is also recognized by her leadership role on several Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines. 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, Raghuveer G, Gaedigk A, Boone EC, Gaedigk R, Staggs VS, Reed GA, Zhang N, Leeder JS. SLCO1B1 Genetic Variation Influence on Atorvastatin Systemic Exposure in Pediatric Hypercholesterolemia. Genes (Basel). 2024 Jan 15; 15(1). PMID: 38254988.
      View in: PubMed
    2. Turner AJ, Haidar CE, Yang W, Boone EC, Offer SM, Empey PE, Haddad A, Tahir S, Scharer G, Broeckel U, Gaedigk A. Updated DPYD HapB3 haplotype structure and implications for pharmacogenomic testing. Clin Transl Sci. 2024 Jan; 17(1):e13699. PMID: 38129972.
      View in: PubMed
    3. Zubiaur P, Leeder JS, Abad-Santos F, Gaedigk A. Response to "What is the Current Clinical Impact of the CYP2C:TG Haplotype?" Clin Pharmacol Ther. 2024 Feb; 115(2):184. PMID: 37970726.
      View in: PubMed
    4. Turner AJ, Nofziger C, Ramey BE, Ly RC, Bousman CA, Ag?ndez JAG, Sangkuhl K, Whirl-Carrillo M, Vanoni S, Dunnenberger HM, Rua?o G, Kennedy MA, Phillips MS, Hachad H, Klein TE, Moyer AM, Gaedigk A. PharmVar Tutorial on CYP2D6 Structural Variation Testing and Recommendations on Reporting. Clin Pharmacol Ther. 2023 Dec; 114(6):1220-1237. PMID: 37669183.
      View in: PubMed
    5. Zubiaur P, Soria-Chacartegui P, Boone EC, Prasad B, Dinh J, Wang WY, Zugbi S, Rodr?guez-Lopez A, Gonz?lez-Iglesias E, Leeder JS, Abad-Santos F, Gaedigk A. Impact of CYP2C:TG Haplotype on CYP2C19 Substrates Clearance In Vivo, Protein Content, and In Vitro Activity. Clin Pharmacol Ther. 2023 Nov; 114(5):1033-1042. PMID: 37528442.
      View in: PubMed
    6. Cramer EY, Bartlett J, Chan ER, Gaedigk A, Ratsimbasoa AC, Mehlotra RK, Williams SM, Zimmerman PA. Pharmacogenomic variation in the Malagasy population: implications for the antimalarial drug primaquine metabolism. Pharmacogenomics. 2023 07; 24(11):583-597. PMID: 37551613.
      View in: PubMed
    7. Pratt VM, Cavallari LH, Fulmer ML, Gaedigk A, Hachad H, Ji Y, Kalman LV, Ly RC, Moyer AM, Scott SA, van Schaik RHN, Whirl-Carrillo M, Weck KE. CYP3A4 and CYP3A5 Genotyping Recommendations: A Joint Consensus Recommendation of the Association for Molecular Pathology, Clinical Pharmacogenetics Implementation Consortium, College of American Pathologists, Dutch Pharmacogenetics Working Group of the Royal Dutch Pharmacists Association, European Society for Pharmacogenomics and Personalized Therapy, and Pharmacogenomics Knowledgebase. J Mol Diagn. 2023 09; 25(9):619-629. PMID: 37419245.
      View in: PubMed
    8. 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. Characterization of Reference Materials for CYP3A4 and CYP3A5: A (GeT-RM) Collaborative Project. J Mol Diagn. 2023 09; 25(9):655-664. PMID: 37354993.
      View in: PubMed
    9. Turner AJ, Derezinski AD, Gaedigk A, Berres ME, Gregornik DB, Brown K, Broeckel U, Scharer G. Characterization of complex structural variation in the CYP2D6-CYP2D7-CYP2D8 gene loci using single-molecule long-read sequencing. Front Pharmacol. 2023; 14:1195778. PMID: 37426826.
      View in: PubMed
    10. Bousman CA, Stevenson JM, Ramsey LB, Sangkuhl K, Hicks JK, Strawn JR, Singh AB, Rua?o G, Mueller DJ, Tsermpini EE, Brown JT, Bell GC, Leeder JS, Gaedigk A, Scott SA, Klein TE, Caudle KE, Bishop JR. Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6, CYP2C19, CYP2B6, SLC6A4, and HTR2A Genotypes and Serotonin Reuptake Inhibitor Antidepressants. Clin Pharmacol Ther. 2023 07; 114(1):51-68. PMID: 37032427.
      View in: PubMed
    11. Kehinde O, Ramsey LB, Gaedigk A, Oni-Orisan A. Advancing CYP2D6 Pharmacogenetics through a Pharmacoequity Lens. Clin Pharmacol Ther. 2023 07; 114(1):69-76. PMID: 36924260.
      View in: PubMed
    12. Bunka M, Wong G, Kim D, Edwards L, Austin J, Doyle-Waters MM, Gaedigk A, Bryan S. Evaluating treatment outcomes in pharmacogenomic-guided care for major depression: A rapid review and meta-analysis. Psychiatry Res. 2023 03; 321:115102. PMID: 36780865.
      View in: PubMed
    13. Black K, Brenn BR, Gaedigk A, Wanderer JP, Van Driest SL. Pediatric CYP2D6 metabolizer status and post-tonsillectomy nausea and vomiting after ondansetron. Clin Transl Sci. 2023 02; 16(2):269-278. PMID: 36350309.
      View in: PubMed
    14. Krzyzanski W, Stockard B, Gaedigk A, Scott A, Nolte W, Gibson K, Leeder JS, Lewis T. Developmental pharmacokinetics of indomethacin in preterm neonates: Severely decreased drug clearance in the first week of life. CPT Pharmacometrics Syst Pharmacol. 2023 01; 12(1):110-121. PMID: 36309972.
      View in: PubMed
    15. Zubiaur P, Gaedigk A. CYP2C18: the orphan in the CYP2C family. Pharmacogenomics. 2022 11; 23(17):913-916. PMID: 36331025.
      View in: PubMed
    16. Wang WY, Twesigomwe D, Nofziger C, Turner AJ, Helmecke LS, Broeckel U, Derezinski AD, Hazelhurst S, Gaedigk A. Characterization of Novel CYP2D6 Alleles across Sub-Saharan African Populations. J Pers Med. 2022 Sep 24; 12(10). PMID: 36294714.
      View in: PubMed
    17. Leeder JS, Gaedigk A, Wright KJ, Staggs VS, Soden SE, Lin YS, Pearce RE. A longitudinal study of cytochrome P450 2D6 (CYP2D6) activity during adolescence. Clin Transl Sci. 2022 Oct; 15(10):2514-2527. PMID: 35997001.
      View in: PubMed
    18. 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. Characterization of Reference Materials for TPMT and NUDT15: A GeT-RM Collaborative Project. J Mol Diagn. 2022 10; 24(10):1079-1088. PMID: 35931342.
      View in: PubMed
    19. Pratt VM, Cavallari LH, Fulmer ML, Gaedigk A, Hachad H, Ji Y, Kalman LV, Ly RC, Moyer AM, Scott SA, van Schaik RHN, Whirl-Carrillo M, Weck KE. TPMT and NUDT15 Genotyping Recommendations: A Joint Consensus Recommendation of the Association for Molecular Pathology, Clinical Pharmacogenetics Implementation Consortium, College of American Pathologists, Dutch Pharmacogenetics Working Group of the Royal Dutch Pharmacists Association, European Society for Pharmacogenomics and Personalized Therapy, and Pharmacogenomics Knowledgebase. J Mol Diagn. 2022 10; 24(10):1051-1063. PMID: 35931343.
      View in: PubMed
    20. Ramsey LB, Gong L, Lee SB, Wagner JB, Zhou X, Sangkuhl K, Adams SM, Straka RJ, Empey PE, Boone EC, Klein TE, Niemi M, Gaedigk A. PharmVar GeneFocus: SLCO1B1. Clin Pharmacol Ther. 2023 04; 113(4):782-793. PMID: 35797228.
      View in: PubMed
    21. Sunthankar SD, Kannankeril PJ, Gaedigk A, Radbill AE, Fish FA, Van Driest SL. Influence of CYP2D6 genetic variation on adverse events with propafenone in the pediatric and young adult population. Clin Transl Sci. 2022 07; 15(7):1787-1795. PMID: 35514162.
      View in: PubMed
    22. Rodriguez-Antona C, Savieo JL, Lauschke VM, Sangkuhl K, Dr?gem?ller BI, Wang D, van Schaik RHN, Gilep AA, Peter AP, Boone EC, Ramey BE, Klein TE, Whirl-Carrillo M, Pratt VM, Gaedigk A. PharmVar GeneFocus: CYP3A5. Clin Pharmacol Ther. 2022 12; 112(6):1159-1171. PMID: 35202484.
      View in: PubMed
    23. Wen YF, Gaedigk A, Boone EC, Wang WY, Straka RJ. The Identification of Novel CYP2D6 Variants in US Hmong: Results From Genome Sequencing and Clinical Genotyping. Front Pharmacol. 2022; 13:867331. PMID: 35387332.
      View in: PubMed
    24. Cooper-DeHoff RM, Niemi M, Ramsey LB, Luzum JA, Tarkiainen EK, Straka RJ, Gong L, Tuteja S, Wilke RA, Wadelius M, Larson EA, Roden DM, Klein TE, Yee SW, Krauss RM, Turner RM, Palaniappan L, Gaedigk A, Giacomini KM, Caudle KE, Voora D. The Clinical Pharmacogenetics Implementation Consortium Guideline for SLCO1B1, ABCG2, and CYP2C9 genotypes and Statin-Associated Musculoskeletal Symptoms. Clin Pharmacol Ther. 2022 05; 111(5):1007-1021. PMID: 35152405.
      View in: PubMed
    25. Chan ER, Mehlotra RK, Pirani KA, Ratsimbasoa AC, Williams SM, Gaedigk A, Zimmerman PA. CYP2D6 gene resequencing in the Malagasy, a population at the crossroads between Asia and Africa: a pilot study. Pharmacogenomics. 2022 04; 23(5):315-325. PMID: 35230160.
      View in: PubMed
    26. Marcos-Vadillo E, Carrascal-Laso L, Ramos-Gallego I, Gaedigk A, Garc?a-Berrocal B, Mayor-Toranzo E, Sevillano-Jim?nez A, S?nchez A, Isidoro-Garc?a M, Franco-Mart?n M. Case Report: Pharmacogenetics Applied to Precision Psychiatry Could Explain the Outcome of a Patient With a New CYP2D6 Genotype. Front Psychiatry. 2021; 12:830608. PMID: 35281207.
      View in: PubMed
    27. Feldman K, Kearns GL, Pearce RE, Abdel-Rahman SM, Steven Leeder J, Friesen A, Staggs VS, Gaedigk A, Weigel J, Shakhnovich V. Utility of the 13 C-pantoprazole breath test as a CYP2C19 phenotyping probe for children. Clin Transl Sci. 2022 05; 15(5):1155-1166. PMID: 35099109.
      View in: PubMed
    28. Tayeh MK, Gaedigk A, Goetz MP, Klein TE, Lyon E, McMillin GA, Rentas S, Shinawi M, Pratt VM, Scott SA. Clinical pharmacogenomic testing and reporting: A technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2022 04; 24(4):759-768. PMID: 35177334.
      View in: PubMed
    29. Lee CR, Luzum JA, Sangkuhl K, Gammal RS, Sabatine MS, Stein CM, Kisor DF, Limdi NA, Lee YM, Scott SA, Hulot JS, Roden DM, Gaedigk A, Caudle KE, Klein TE, Johnson JA, Shuldiner AR. Clinical Pharmacogenetics Implementation Consortium Guideline for CYP2C19 Genotype and Clopidogrel Therapy: 2022 Update. Clin Pharmacol Ther. 2022 11; 112(5):959-967. PMID: 35034351.
      View in: PubMed
    30. Gaedigk A, Boone EC, Scherer SE, Lee SB, Numanagic I, Sahinalp C, Smith JD, McGee S, Radhakrishnan A, Qin X, Wang WY, Farrow EG, Gonzaludo N, Halpern AL, Nickerson DA, Miller NA, Pratt VM, Kalman LV. CYP2C8, CYP2C9, and CYP2C19 Characterization Using Next-Generation Sequencing and Haplotype Analysis: A GeT-RM Collaborative Project. J Mol Diagn. 2022 04; 24(4):337-350. PMID: 35134542.
      View in: PubMed
    31. Pe?a-Mart?n MC, Garc?a-Berrocal B, S?nchez-Mart?n A, Marcos-Vadillo E, Garc?a-Salgado MJ, S?nchez S, Lorenzo C, Gonz?lez-Parra D, Sans F, Franco M, Gaedigk A, Mateos-Sexmero MJ, Sanz C, Isidoro-Garc?a M. Ten Years of Experience Support Pharmacogenetic Testing to Guide Individualized Drug Therapy. Pharmaceutics. 2022 Jan 11; 14(1). PMID: 35057056.
      View in: PubMed
    32. Dinh JC, Boone EC, Staggs VS, Pearce RE, Wang WY, Gaedigk R, Leeder JS, Gaedigk A. The Impact of the CYP2D6 "Enhancer" Single Nucleotide Polymorphism on CYP2D6 Activity. Clin Pharmacol Ther. 2022 03; 111(3):646-654. PMID: 34716917.
      View in: PubMed
    33. Ag?ndez JAG, Formea C, Gaedigk A, Garc?a-Mart?n E, Gong L, Grosser T, Lee CR, Theken KN. Editorial: NSAIDs Pharmacogenomics. Front Pharmacol. 2021; 12:798447. PMID: 34867430.
      View in: PubMed
    34. Leeder JS, Dinh JC, Gaedigk A, Staggs VS, Prasad B, Pearce RE. Ontogeny of Scaling Factors for Pediatric Physiology-Based Pharmacokinetic Modeling and Simulation: Microsomal Protein Per Gram of Liver. Drug Metab Dispos. 2022 01; 50(1):24-32. PMID: 34686522.
      View in: PubMed
    35. Hongkaew Y, Gaedigk A, Wilffert B, Gaedigk R, Kittitharaphan W, Ngamsamut N, Limsila P, Puangpetch A, Sukprasong R, Sukasem C. Pharmacogenomics Factors Influencing the Effect of Risperidone on Prolactin Levels in Thai Pediatric Patients With Autism Spectrum Disorder. Front Pharmacol. 2021; 12:743494. PMID: 34690776.
      View in: PubMed
    36. Ramsey LB, Gaedigk A. CYP2D6*9 and *41: Does the Activity Value Assigned to these Alleles Need to be Reduced to more Accurately Predict Phenotype? Clin Pharmacol Ther. 2022 06; 111(6):1208-1211. PMID: 34352934.
      View in: PubMed
    37. Chamnanphon M, Sukprasong R, Gaedigk A, Manosuthi W, Chariyavilaskul P, Wittayalertpanya S, Koomdee N, Jantararoungtong T, Puangpetch A, Sukasem C. Influence of SULT1A1*2 Polymorphism on Plasma Efavirenz Concentration in Thai HIV-1 Patients. Pharmgenomics Pers Med. 2021; 14:915-926. PMID: 34335044.
      View in: PubMed
    38. Sangkuhl K, Claudio-Campos K, Cavallari LH, Agundez JAG, Whirl-Carrillo M, Duconge J, Del Tredici AL, Wadelius M, Rodrigues Botton M, Woodahl EL, Scott SA, Klein TE, Pratt VM, Daly AK, Gaedigk A. PharmVar GeneFocus: CYP2C9. Clin Pharmacol Ther. 2021 09; 110(3):662-676. PMID: 34109627.
      View in: PubMed
    39. Hippman C, Slomp C, Morris E, Batallones R, Inglis A, Carrion P, Brain U, Higginson M, Wright GEB, Balneaves LG, Ryan D, Nislow C, Ross CJD, Gaedigk A, Oberlander TF, Austin J. A cross-sectional study of the relationship between CYP2D6 and CYP2C19 variations and depression symptoms, for women taking SSRIs during pregnancy. Arch Womens Ment Health. 2022 04; 25(2):355-365. PMID: 34231053.
      View in: PubMed
    40. Gaedigk A, Casey ST, Whirl-Carrillo M, Miller NA, Klein TE. Pharmacogene Variation Consortium: A Global Resource and Repository for Pharmacogene Variation. Clin Pharmacol Ther. 2021 09; 110(3):542-545. PMID: 34091888.
      View in: PubMed
    41. Pratt VM, Cavallari LH, Del Tredici AL, Gaedigk A, Hachad H, Ji Y, Kalman LV, Ly RC, Moyer AM, Scott SA, van Schaik RHN, Whirl-Carrillo M, Weck KE. Recommendations for Clinical CYP2D6 Genotyping Allele Selection: A Joint Consensus Recommendation of the Association for Molecular Pathology, College of American Pathologists, Dutch Pharmacogenetics Working Group of the Royal Dutch Pharmacists Association, and the European Society for Pharmacogenomics and Personalized Therapy. J Mol Diagn. 2021 09; 23(9):1047-1064. PMID: 34118403.
      View in: PubMed
    42. Pratt VM, Turner A, Broeckel U, Dawson DB, Gaedigk A, Lynnes TC, Medeiros EB, Moyer AM, Requesens D, Vetrini F, Kalman LV. 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. J Mol Diagn. 2021 08; 23(8):952-958. PMID: 34020041.
      View in: PubMed
    43. Hongkaew Y, Wang WY, Gaedigk R, Sukasem C, Gaedigk A. Resolving discordant CYP2D6 genotyping results in Thai subjects: platform limitations and novel haplotypes. Pharmacogenomics. 2021 06; 22(9):529-541. PMID: 33998274.
      View in: PubMed
    44. Mehlotra RK, Gaedigk A, Howes RE, Rakotomanga TA, Ratsimbasoa AC, Zimmerman PA. CYP2D6 Genetic Variation and Its Implication for Vivax Malaria Treatment in Madagascar. Front Pharmacol. 2021; 12:654054. PMID: 33959023.
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    200. 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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    201. 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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    202. 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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    203. 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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    204. 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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    205. 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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    206. 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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    207. 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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    208. Gaedigk A, Ndjountch? 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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    209. 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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    210. 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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    211. 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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    212. 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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    213. 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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    214. 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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    215. 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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    216. 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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    217. 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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    218. 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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    219. 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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    220. 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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    221. 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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    222. 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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    223. 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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    224. 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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    225. 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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    226. 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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    227. 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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    228. 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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    229. 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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    230. 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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    231. Griese EU, Zanger UM, Brudermanns U, Gaedigk A, Mikus G, M?rike K, St?ven 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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    232. 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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    233. 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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    234. 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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    235. 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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    236. 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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    237. 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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    238. 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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    239. 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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    240. 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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    241. 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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    242. 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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