Author

A. Gaedigk

3 papers indexed here

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Oct 2026

Distribution of the J1 haplotype variant rs2267439 across CYP2D6 diplotypes and its impact on risperidone metabolism.

CYP2D6 is a highly polymorphic pharmacogene responsible for the metabolism of more than 20% of commonly prescribed drugs. Clinical implementation of CYP2D6 pharmacogenetics relies on star allele nomenclature and the Activity Score system, yet substantial interindividual variability in drug exposure remains unexplained....

Antonio Asensi-Cantó, Wendy Y. Wang, Erin C. Boone et al. · Pharmacogenetics & Genomics · 0 citations

Open access Aug 2026

Characterization of NAT2 Using Long‐Read Sequencing: Allele, Diplotype, and Phenotype Call Accuracy Compared to Other Testing Strategies

The NAT2 pharmacogene is essential in drug metabolism, particularly for aromatic amines and hydrazines. Genetic variations in NAT2 categorize individuals as rapid, intermediate, or poor metabolizers based on their acetylation capacity to inform dosing guidelines. Genotyping and short‐read sequencing allele calling meth...

Shobana John, Erin C. Boone, B. Yoo et al. · Clinical pharmacology and th... · 0 citations

Review Open access Aug 2026

Clinical Functional Assignment of TPMT and NUDT15 Alleles by the Clinical Pharmacogenetics Implementation Consortium Pharmacogene Curation Expert Panel

The work presented here includes the first designation of decreased function alleles for both TPMT and NUDT15, reflecting new clinical data that demonstrate partial loss of enzymatic activity and reduced dose tolerance.

Bailey M. Tibben, Maud Maillard, Victoria M. Pratt et al. · Clinical pharmacology and th... · 0 citations