Associated Papers
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.
Yin X et al.
Nature Communications, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
APF2: an improved ensemble method for pharmacogenomic variant effect prediction.
Zhou Y et al.
The Pharmacogenomics Journal, 2024
Common dihydropyrimidinase ( DPYS ) genetic variations do not predict fluoropyrimidine-related chemotherapy toxicity in a Canadian cohort.
Medwid SJ et al.
Pharmacogenetics and Genomics, 2024
Functional Characterization of 12 Dihydropyrimidinase Allelic Variants in Japanese Individuals for the Prediction of 5-Fluorouracil Treatment-Related Toxicity.
Hishinuma E et al.
Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2023
[Analysis of DPYS gene variants in a child with dihydropyrimidase deficiency].
Lei M et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2020
An optimized prediction framework to assess the functional impact of pharmacogenetic variants.
Zhou Y et al.
The Pharmacogenomics Journal, 2019
Dihydropyrimidinase deficiency in four East Asian patients due to novel and rare DPYS mutations affecting protein structural integrity and catalytic activity.
Nakajima Y et al.
Molecular Genetics and Metabolism, 2017
Beta-alanine and beta-aminoisobutyric acid levels in two siblings with dihydropyrimidinase deficiency.
van Kuilenburg AB et al.
Nucleosides, Nucleotides & Nucleic Acids, 2008
Dihydropyrimidinase deficiency and severe 5-fluorouracil toxicity.
van Kuilenburg AB et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2003
Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients.
van Kuilenburg AB et al.
Biochimica Et Biophysica Acta, 0