Author

B. Yoo

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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

PARTIAL ALTERNATIVE SPLICING IN CARRIERS OF DPYD rs75017182 EXPLAINS A MODEST ASSOCIATION WITH SEVERE

It is demonstrated that rs75017182‐ C promotes alternative splicing in the minigene plasmid model, and that the level of splicing may be affected by additional variants in linkage disequilibrium with rs75017182.

L. Hahn, Brianna M. Bembenek, Kelly J. Bouchonville et al. · 0 citations