Publications:

Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.

Npj Genomic Medicine

Lanillos, Javier J; Carcajona, Marta M; Maietta, Paolo P; Alvarez, Sara S; Rodriguez-Antona, Cristina C

Publication Date: 2022-02-18

Variant appearance in text: DPYD: 2915A>G; Q972R

PubMed Link: 35181665

Variant Present in the following documents:

• 41525_2022_283_MOESM2_ESM.xlsx, sheet 1
• 41525_2022_283_MOESM4_ESM.xlsx, sheet 1

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Potential Impact of DPYD Variation on Fluoropyrimidine Drug Response in sub-Saharan African Populations.

Frontiers In Genetics

da Rocha, Jorge E B JEB; Lombard, Zané Z; Ramsay, Michèle M

Publication Date: 2021

Variant appearance in text: rs145529148

PubMed Link: 33767731

Variant Present in the following documents:

• Main text
• fgene-12-626954.pdf

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Population-scale predictions of DPD and TPMT phenotypes using a quantitative pharmacogene-specific ensemble classifier.

British Journal Of Cancer

Zhou, Yitian Y; Dagli Hernandez, Carolina C; Lauschke, Volker M VM

Publication Date: 2020-12

Variant appearance in text: DPYD: Q972R; rs145529148

PubMed Link: 32973300

Variant Present in the following documents:

• 41416_2020_1084_MOESM1_ESM.xlsx, sheet 1

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In Vitro Assessment of Fluoropyrimidine-Metabolizing Enzymes: Dihydropyrimidine Dehydrogenase, Dihydropyrimidinase, and β-Ureidopropionase.

Journal Of Clinical Medicine

Hishinuma, Eiji E; Gutiérrez Rico, Evelyn E; Hiratsuka, Masahiro M

Publication Date: 2020-07-22

Variant appearance in text: DPYD: Q972R; rs145529148

PubMed Link: 32707991

Variant Present in the following documents:

• Main text
• jcm-09-02342.pdf

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Pharmacogenomics Clinical Annotation Tool (PharmCAT).

Clinical Pharmacology And Therapeutics

Sangkuhl, Katrin K; Whirl-Carrillo, Michelle M; Whaley, Ryan M RM; Woon, Mark M; Lavertu, Adam A; Altman, Russ B RB; Carter, Lester L; Verma, Anurag A; Ritchie, Marylyn D MD; Klein, Teri E TE

Publication Date: 2020-01

Variant appearance in text: rs145529148

PubMed Link: 31306493

Variant Present in the following documents:

• CPT-107-203-s004.pdf

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