Associated Papers
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF
APF2: an improved ensemble method for pharmacogenomic variant effect prediction.
Zhou Y et al.
The Pharmacogenomics Journal, 2024
38802404 (PubMed )
Supplement: 41397_2024_338_MOESM2_ESM.xlsx › Sheet1
The diagnostic odyssey of a patient with dihydropyrimidinase deficiency: a case report and review of the literature.
Albokhari D et al.
Cold Spring Harbor Molecular Case Studies, 2023
Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.
Boonsawat P et al.
Npj Genomic Medicine, 2022
35906228 (PubMed )
Supplement: 41525_2022_316_MOESM3_ESM.xlsx › Supplementary_Table_4b
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
An optimized prediction framework to assess the functional impact of pharmacogenetic variants.
Zhou Y et al.
The Pharmacogenomics Journal, 2019
30206299 (PubMed )
Supplement: 41397_2018_44_MOESM5_ESM.xlsx › Sheet1
Functional characterization of 21 allelic variants of dihydropyrimidinase.
Hishinuma E et al.
Biochemical Pharmacology, 2017
Contribution of dihydropyrimidinase gene alterations to the development of serious toxicity in fluoropyrimidine-treated cancer patients.
Fidlerova J et al.
Cancer Chemotherapy and Pharmacology, 2010
Beta-alanine and beta-aminoisobutyric acid levels in two siblings with dihydropyrimidinase deficiency.
van Kuilenburg AB et al.
Nucleosides, Nucleotides & Nucleic Acids, 2008
Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency.
van Kuilenburg AB et al.
Molecular Genetics and Metabolism, 2007
Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene.
Hamajima N et al.
American Journal of Human Genetics, 1998
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