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Search Results to Andrea Gaedigk

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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.

One or more keywords matched the following items that are connected to Gaedigk, Andrea

Item TypeName
Concept Alleles
Academic Article Cytochrome P4502C9 (CYP2C9) allele frequencies in Canadian Native Indian and Inuit populations.
Academic Article Unique CYP2D6 activity distribution and genotype-phenotype discordance in black Americans.
Academic Article Discovery of a novel nonfunctional cytochrome P450 2D6 allele, CYP2D642, in African American subjects.
Academic Article Identification and characterization of novel sequence variations in the cytochrome P4502D6 (CYP2D6) gene in African Americans.
Academic Article Identification of CYP2D6 impaired functional alleles in Mexican Americans.
Academic Article Variability of CYP2J2 expression in human fetal tissues.
Academic Article Cytochrome P4502D6 (CYP2D6) gene locus heterogeneity: characterization of gene duplication events.
Academic Article Ontogeny of dextromethorphan O- and N-demethylation in the first year of life.
Academic Article Identification and characterization of CYP2D6*56B, an allele associated with the poor metabolizer phenotype.
Academic Article The CYP2D6 gene locus in South African Coloureds: unique allele distributions, novel alleles and gene arrangements.
Academic Article Identification of a novel non-functional CYP2D6 allele, CYP2D6*69, in a Caucasian poor metabolizer individual.
Academic Article CYP2D7-2D6 hybrid tandems: identification of novel CYP2D6 duplication arrangements and implications for phenotype prediction.
Academic Article Impact of the CYP2C19*17 allele on the pharmacokinetics of omeprazole and pantoprazole in children: evidence for a differential effect.
Academic Article Discovery of the nonfunctional CYP2D6 31 allele in Spanish, Puerto Rican, and US Hispanic populations.
Academic Article Genetic variants of the drug-metabolizing enzyme CYP2D6 in Puerto Rican psychiatry patients: a preliminary report and potential implications for breast cancer patients.
Academic Article CYP2D6, SULT1A1 and UGT2B17 copy number variation: quantitative detection by multiplex PCR.
Academic Article CYP2D6 update: revised nomenclature for CYP2D7/2D6 hybrid genes.
Academic Article High-resolution melt analysis to detect sequence variations in highly homologous gene regions: application to CYP2B6.
Academic Article Characterization of a complex CYP2D6 genotype that caused an AmpliChip CYP450 Test no-call in the clinical setting.
Academic Article Human acetyltransferase polymorphisms.
Academic Article CYP2D6 and pharmacogenomics: where does future research need to focus? Part 1: technical aspects.
Academic Article Resolution of a clinical AmpliChip CYP450 Test? no call: discovery and characterization of novel CYP2D6*1 haplotypes.
Academic Article Debrisoquine/sparteine hydroxylation genotype and phenotype: analysis of common mutations and alleles of CYP2D6 in a European population.
Academic Article SNP genotyping using TaqMan technology: the CYP2D6*17 assay conundrum.
Academic Article Assessment of the predictive power of genotypes for the in-vivo catalytic function of CYP2D6 in a German population.
Academic Article In vivo characterization of CYP2D6*12, *29 and *84 using dextromethorphan as a probe drug: a case report.
Academic Article CYP2D6 Haplotype Determination Using Long Range Allele-Specific Amplification: Resolution of a Complex Genotype and a Discordant Genotype Involving the CYP2D6*59 Allele.
Academic Article Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting.
Academic Article Long-Read Single Molecule Real-Time Full Gene Sequencing of Cytochrome P450-2D6.
Academic Article Single dose, CYP2D6 genotype-stratified pharmacokinetic study of atomoxetine in children with ADHD.
Academic Article Chiral phase analysis of warfarin enantiomers in patient plasma in relation to CYP2C9 genotype.
Academic Article NAD(P)H:quinone oxidoreductase: polymorphisms and allele frequencies in Caucasian, Chinese and Canadian Native Indian and Inuit populations.
Academic Article Comparison of three CYP2D6 probe substrates and genotype in Ghanaians, Chinese and Caucasians.
Academic Article Variants in the CYP2B6 3'UTR Alter In Vitro and In Vivo CYP2B6 Activity: Potential Role of MicroRNAs.
Academic Article The Pharmacogene Variation (PharmVar) Consortium: Incorporation of the Human Cytochrome P450 (CYP) Allele Nomenclature Database.
Academic Article Dose dependency of dextromethorphan for cytochrome P450 2D6 (CYP2D6) phenotyping.
Academic Article Optimization of cytochrome P4502D6 (CYP2D6) phenotype assignment using a genotyping algorithm based on allele frequency data.
Academic Article Stargazer: a software tool for calling star alleles from next-generation sequencing data using CYP2D6 as a model.
Academic Article Integrated CYP2D6 interrogation for multiethnic copy number and tandem allele detection.
Academic Article Pharmacogene Variation Consortium Gene Introduction: NUDT15.
Academic Article Structural variation at the CYP2C locus: Characterization of deletion and duplication alleles.
Academic Article Characterization of Reference Materials for Genetic Testing of CYP2D6 Alleles: A GeT-RM Collaborative Project.
Academic Article Interrogation of CYP2D6 Structural Variant Alleles Improves the Correlation Between CYP2D6 Genotype and CYP2D6-Mediated Metabolic Activity.
Academic Article Standardizing CYP2D6 Genotype to Phenotype Translation: Consensus Recommendations from the Clinical Pharmacogenetics Implementation Consortium and Dutch Pharmacogenetics Working Group.
Academic Article PharmVar and the Landscape of Pharmacogenetic Resources.
Academic Article Long-Distance Phasing of a Tentative "Enhancer" Single-Nucleotide Polymorphism With CYP2D6 Star Allele Definitions.
Academic Article PharmVar GeneFocus: CYP2C19.
Academic Article Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2C9 and HLA-B Genotypes and Phenytoin Dosing: 2020 Update.
Academic Article Transfer learning enables prediction of CYP2D6 haplotype function.
Academic Article PharmVar GeneFocus: CYP2B6.
Academic Article Relationship between CYP2D6 genotype, activity score and phenotype in a pediatric Thai population treated with risperidone.
Academic Article Identification of CYP2D6 Haplotypes that Interfere with Commonly Used Assays for Copy Number Variation Characterization.
Academic Article Genetic variability of CYP2D6, CYP3A4 and CYP3A5 among the Egyptian population.
Academic Article Resolving discordant CYP2D6 genotyping results in Thai subjects: platform limitations and novel haplotypes.
Academic Article 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.
Academic Article PharmVar GeneFocus: CYP2C9.
Academic Article 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.
Academic Article CYP2D6*9 and *41: Does the Activity Value Assigned to these Alleles Need to be Reduced to more Accurately Predict Phenotype?
Academic Article The Impact of the CYP2D6 "Enhancer" Single Nucleotide Polymorphism on CYP2D6 Activity.
Academic Article CYP2C8, CYP2C9, and CYP2C19 Characterization Using Next-Generation Sequencing and Haplotype Analysis: A GeT-RM Collaborative Project.
Academic Article Influence of CYP2D6 genetic variation on adverse events with propafenone in the pediatric and young adult population.
Academic Article PharmVar GeneFocus: SLCO1B1.
Academic Article Characterization of Reference Materials for TPMT and NUDT15: A GeT-RM Collaborative Project.
Academic Article Characterization of Novel CYP2D6 Alleles across Sub-Saharan African Populations.
Academic Article Characterization of Reference Materials for CYP3A4 and CYP3A5: A (GeT-RM) Collaborative Project.
Academic Article PharmVar Tutorial on CYP2D6 Structural Variation Testing and Recommendations on Reporting.

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