Publications:

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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: N/A

PubMed Link: 35181665

Variant Present in the following documents:

View BVdb publication page

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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: rs114096998

PubMed Link: 33767731

Variant Present in the following documents:

• Main text
• fgene-12-626954.pdf

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The Road so Far in Colorectal Cancer Pharmacogenomics: Are We Closer to Individualised Treatment?

Journal Of Personalized Medicine

Simões, Ana Rita AR; Fernández-Rozadilla, Ceres C; Maroñas, Olalla O; Carracedo, Ángel Á

Publication Date: 2020-11-19

Variant appearance in text: rs114096998

PubMed Link: 33228198

Variant Present in the following documents:

• Main text
• jpm-10-00237.pdf

View BVdb publication page

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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: P1023S; rs114096998

PubMed Link: 32707991

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs114096998

PubMed Link: 31306493

Variant Present in the following documents:

• CPT-107-203-s004.pdf

View BVdb publication page

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Mutational and putative neoantigen load predict clinical benefit of adoptive T cell therapy in melanoma.

Nature Communications

Lauss, Martin M; Donia, Marco M; Harbst, Katja K; Andersen, Rikke R; Mitra, Shamik S; Rosengren, Frida F; Salim, Maryem M; Vallon-Christersson, Johan J; Törngren, Therese T; Kvist, Anders A; Ringnér, Markus M; Svane, Inge Marie IM; Jönsson, Göran G

Publication Date: 2017-11-23

Variant appearance in text: DPYD: 3067C>T; P1023S

PubMed Link: 29170503

Variant Present in the following documents:

• 41467_2017_1460_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Pharmacogenomics DNA Biomarkers in Colorectal Cancer: Current Update.

Frontiers In Pharmacology

Ab Mutalib, Nurul-Syakima NS; Md Yusof, Najwa F NF; Abdul, Shafina-Nadiawati SN; Jamal, Rahman R

Publication Date: 2017

Variant appearance in text: DPYD: P1023S

PubMed Link: 29075194

Variant Present in the following documents:

• Main text
• fphar-08-00736.pdf

View BVdb publication page

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Pretreatment serum uracil concentration as a predictor of severe and fatal fluoropyrimidine-associated toxicity.

British Journal Of Cancer

Meulendijks, Didier D; Henricks, Linda M LM; Jacobs, Bart A W BAW; Aliev, Abidin A; Deenen, Maarten J MJ; de Vries, Niels N; Rosing, Hilde H; van Werkhoven, Erik E; de Boer, Anthonius A; Beijnen, Jos H JH; Mandigers, Caroline M P W CMPW; Soesan, Marcel M; Cats, Annemieke A; Schellens, Jan H M JHM

Publication Date: 2017-05-23

Variant appearance in text: DPYD: Pro1023Ser

PubMed Link: 28427087

Variant Present in the following documents:

View BVdb publication page

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Characterization of ADME gene variation in 21 populations by exome sequencing.

Pharmacogenetics And Genomics

Hovelson, Daniel H DH; Xue, Zhengyu Z; Zawistowski, Matthew M; Ehm, Margaret G MG; Harris, Elizabeth C EC; Stocker, Sophie L SL; Gross, Annette S AS; Jang, In-Jin IJ; Ieiri, Ichiro I; Lee, Jong-Eun JE; Cardon, Lon R LR; Chissoe, Stephanie L SL; Abecasis, Gonçalo G; Nelson, Matthew R MR

Publication Date: 2017-03

Variant appearance in text: rs114096998

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s006.xlsx, sheet 2

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Novel Deleterious Dihydropyrimidine Dehydrogenase Variants May Contribute to 5-Fluorouracil Sensitivity in an East African Population.

Clinical Pharmacology And Therapeutics

Elraiyah, T T; Jerde, C R CR; Shrestha, S S; Wu, R R; Nie, Q Q; Giama, N H NH; Sarangi, V V; Roberts, L R LR; Offer, S M SM; Diasio, R B RB

Publication Date: 2017-03

Variant appearance in text: DPYD: 3067C>T; P1023S

PubMed Link: 27727460

Variant Present in the following documents:

• Main text

View BVdb publication page

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: DPYD: P1023S

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

View BVdb publication page

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De novo mutations in moderate or severe intellectual disability.

Plos Genetics

Hamdan, Fadi F FF; Srour, Myriam M; Capo-Chichi, Jose-Mario JM; Daoud, Hussein H; Nassif, Christina C; Patry, Lysanne L; Massicotte, Christine C; Ambalavanan, Amirthagowri A; Spiegelman, Dan D; Diallo, Ousmane O; Henrion, Edouard E; Dionne-Laporte, Alexandre A; Fougerat, Anne A; Pshezhetsky, Alexey V AV; Venkateswaran, Sunita S; Rouleau, Guy A GA; Michaud, Jacques L JL

Publication Date: 2014-10

Variant appearance in text: DPYD: P1023S

PubMed Link: 25356899

Variant Present in the following documents:

• pgen.1004772.s004.xlsx, sheet 16

View BVdb publication page

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