Associated Papers
Targeted adaptive sampling enables clinical pharmacogenomics testing and genome-wide genotyping.
Gan PHP et al.
Scientific Reports, 2025
Implementing Pre-Emptive Pharmacogenetics: Impact of Early Pharmacogenetic Screening in a Pediatric Oncology Cohort of 1,151 Subjects.
Bernsen EC et al.
Clinical Pharmacology and Therapeutics, 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
Clinical Implementation of Rare and Novel DPYD Variants for Personalizing Fluoropyrimidine Treatment: Challenges and Opportunities.
De Mattia E et al.
International Journal of Biological Sciences, 2024
Profiling of pharmacogenomic variants in CYP2D6 and DPYD in indigenous Arab breast cancer patients.
Alsulaiman A et al.
Pharmacogenomics, 2023
A Comprehensive Analysis of 21 Actionable Pharmacogenes in the Spanish Population: From Genetic Characterisation to Clinical Impact.
Nunez-Torres R et al.
Pharmaceutics, 2023
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V et al.
American Journal of Human Genetics, 2022
Association of Inherited Genetic Factors With Drug-Induced Hepatic Damage Among Children With Acute Lymphoblastic Leukemia.
Yang W et al.
Jama Network Open, 2022
Somatic Mutations Alter Interleukin Signaling Pathways in Grade II Invasive Breast Cancer Patients: An Egyptian Experience.
Nassar A et al.
Current Issues in Molecular Biology, 2022
Genetic Variations of the DPYD Gene and Its Relationship with Ancestry Proportions in Different Ecuadorian Trihybrid Populations.
Farinango C et al.
Journal of Personalized Medicine, 2022
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos J et al.
Npj Genomic Medicine, 2022
ClinPharmSeq: A targeted sequencing panel for clinical pharmacogenetics implementation.
Lee SB et al.
Plos One, 2022
DPYD Exome, mRNA Expression and Uracil Levels in Early Severe Toxicity to Fluoropyrimidines: An Extreme Phenotype Approach.
Villalvazo P et al.
Journal of Personalized Medicine, 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
New advances in DPYD genotype and risk of severe toxicity under capecitabine.
Etienne-Grimaldi MC et al.
Plos One, 2017
Phenotypic and clinical implications of variants in the dihydropyrimidine dehydrogenase gene.
Kuilenburg ABPV et al.
Biochimica Et Biophysica Acta, 2016
Highlight on DPYD gene polymorphisms and treatment by capecitabine (.).
Milano G
Scandinavian Journal of Clinical and Laboratory Investigation. Supplementum, 2016
Identification of HPV integration and gene mutation in HeLa cell line by integrated analysis of RNA-Seq and MS/MS data.
Sun H et al.
Journal of Proteome Research, 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
Severe fluoropyrimidine-related toxicity: clinical implications of DPYD analysis and UH2/U ratio evaluation.
Giorgio E et al.
Cancer Chemotherapy and Pharmacology, 2011
Strong association of a common dihydropyrimidine dehydrogenase gene polymorphism with fluoropyrimidine-related toxicity in cancer patients.
Gross E et al.
Plos One, 2008
Mutational spectrum of dihydropyrimidine dehydrogenase gene (DPYD) in the Tunisian population.
Ben Fredj R et al.
Comptes Rendus Biologies, 2007
Methylation of the DPYD promoter: an alternative mechanism for dihydropyrimidine dehydrogenase deficiency in cancer patients.
Ezzeldin HH et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2005
Analysis of the DPYD gene implicated in 5-fluorouracil catabolism in a cohort of Caucasian individuals.
Seck K et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2005