Associated Papers
DPYD genotype should be extended to rare variants: report on two cases of phenotype / genotype discrepancy.
Vilquin P et al.
Cancer Chemotherapy and Pharmacology, 2025
Unravelling the role of PLK1 in tumorigenesis by revealing the mutational landscape of colorectal and lung cancer with PLK1 mutations.
Wang S et al.
Journal of Cellular and Molecular Medicine, 2024
38887977 (PubMed )
Supplement: JCMM-28-e18497-s004.xlsx › Sheet1
A panel-agnostic strategy 'HiPPo' improves diagnostic efficiency in the UK Genome Medicine Service.
Seaby EG et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
36778464 (PubMed )
Supplement: media-1.xlsx › Table_2
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
33483695 (PubMed )
Supplement: 41380_2020_1006_MOESM2_ESM.xlsx › S2
Population-scale predictions of DPD and TPMT phenotypes using a quantitative pharmacogene-specific ensemble classifier.
Zhou Y et al.
British Journal of Cancer, 2020
32973300 (PubMed )
Supplement: 41416_2020_1084_MOESM1_ESM.xlsx › Sheet1
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
32595208 (PubMed )
Supplement: 41416_2020_962_MOESM1_ESM.pdf
Added Value of Clinical Sequencing: WGS-Based Profiling of Pharmacogenes.
Caspar SM et al.
International Journal of Molecular Sciences, 2020
32225115 (PubMed )
Supplement: ijms-21-02308-s001.zip › Caspar_et_al_Supplementary_Table_S1.xlsx › gnomAD_Exomes_LOF
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