Associated Papers
Potential clinical relevance of rare dihydropyrimidine dehydrogenase genetic variants identified using whole-exome NextGen sequencing in cancer patients with severe fluoropyrimidine toxicity.
Cui E et al.
Cancer Chemotherapy and Pharmacology, 2025
Clinical impact of pharmacogenomics in pediatric care: insights extracted from clinical exome sequencing.
Maggo S et al.
Frontiers in Genetics, 2025
Pharmacogenetic analysis of structural variation in the 1000 genomes project using whole genome sequences.
Sherman CA et al.
Scientific Reports, 2024
Characterization of Reference Materials for DPYD: A GeT-RM Collaborative Project.
Gaedigk A et al.
The Journal of Molecular Diagnostics : Jmd, 2024
Discovering novel germline genetic variants linked to severe fluoropyrimidine-related toxicity in- and outside DPYD.
Knikman JE et al.
Genome Medicine, 2024
APF2: an improved ensemble method for pharmacogenomic variant effect prediction.
Zhou Y et al.
The Pharmacogenomics Journal, 2024
Contradiction in Star-Allele Nomenclature of Pharmacogenes between Common Haplotypes and Rare Variants.
Ahn SH et al.
Genes, 2024
Integrating rare genetic variants into DPYD pharmacogenetic testing may help preventing fluoropyrimidine-induced toxicity.
Larrue R et al.
The Pharmacogenomics Journal, 2024
Profiling of pharmacogenomic variants in CYP2D6 and DPYD in indigenous Arab breast cancer patients.
Alsulaiman A et al.
Pharmacogenomics, 2023
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos J et al.
Npj Genomic Medicine, 2022
Computational Tools to Assess the Functional Consequences of Rare and Noncoding Pharmacogenetic Variability.
Zhou Y et al.
Clinical Pharmacology and Therapeutics, 2021
Population-scale predictions of DPD and TPMT phenotypes using a quantitative pharmacogene-specific ensemble classifier.
Zhou Y et al.
British Journal of Cancer, 2020
A comprehensive population-based study comparing the phenotype and genotype in a pretherapeutic screen of dihydropyrimidine dehydrogenase deficiency.
Pallet N et al.
British Journal of Cancer, 2020
In Vitro Assessment of Fluoropyrimidine-Metabolizing Enzymes: Dihydropyrimidine Dehydrogenase, Dihydropyrimidinase, and β-Ureidopropionase.
Hishinuma E et al.
Journal of Clinical Medicine, 2020
Novel Deleterious Dihydropyrimidine Dehydrogenase Variants May Contribute to 5-Fluorouracil Sensitivity in an East African Population.
Elraiyah T et al.
Clinical Pharmacology and Therapeutics, 2017
Advances and challenges in hereditary cancer pharmacogenetics.
Cascorbi I et al.
Expert Opinion on Drug Metabolism & Toxicology, 2017
Germline oncopharmacogenetics, a promising field in cancer therapy.
Pesenti C et al.
Cellular Oncology (dordrecht, Netherlands), 2015
Comparative functional analysis of DPYD variants of potential clinical relevance to dihydropyrimidine dehydrogenase activity.
Offer SM et al.
Cancer Research, 2014
A DPYD variant (Y186C) in individuals of african ancestry is associated with reduced DPD enzyme activity.
Offer SM et al.
Clinical Pharmacology and Therapeutics, 2013
Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder.
Carter MT et al.
Clinical Genetics, 2011