Associated Papers
Clinical impact of pharmacogenomics in pediatric care: insights extracted from clinical exome sequencing.
Maggo S et al.
Frontiers in Genetics, 2025
40510810 (PubMed )
Supplement: Table3.xlsx › Table_S1
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
38802404 (PubMed )
Supplement: 41397_2024_338_MOESM1_ESM.xlsx › Sheet1
Contradiction in Star-Allele Nomenclature of Pharmacogenes between Common Haplotypes and Rare Variants.
Ahn SH et al.
Genes, 2024
38674455 (PubMed )
Supplement: genes-15-00521-s001.zip › Supplementary_Table.xls › Table_S1
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
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos J et al.
Npj Genomic Medicine, 2022
35181665 (PubMed )
Supplement: 41525_2022_283_MOESM2_ESM.xlsx › Alleles
In Vitro Assessment of Fluoropyrimidine-Metabolizing Enzymes: Dihydropyrimidine Dehydrogenase, Dihydropyrimidinase, and β-Ureidopropionase.
Hishinuma E et al.
Journal of Clinical Medicine, 2020
Comparative functional analysis of DPYD variants of potential clinical relevance to dihydropyrimidine dehydrogenase activity.
Offer SM et al.
Cancer Research, 2014
Dihydropyrimidine dehydrogenase polymorphisms and fluoropyrimidine toxicity: ready for routine clinical application within personalized medicine?
Del Re M et al.
The Epma Journal, 2010
Two cases of 5-fluorouracil toxicity linked with gene variants in the DPYD gene.
Ofverholm A et al.
Clinical Biochemistry, 2010
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