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: DPYD: 1905C>G; N635K

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

View BVdb publication page

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Implementing Pharmacogenomics Testing: Single Center Experience at Arkansas Children's Hospital.

Journal Of Personalized Medicine

Gill, Pritmohinder S PS; Yu, Feliciano B FB; Porter-Gill, Patricia A PA; Boyanton, Bobby L BL; Allen, Judy C JC; Farrar, Jason E JE; Veerapandiyan, Aravindhan A; Prodhan, Parthak P; Bielamowicz, Kevin J KJ; Sellars, Elizabeth E; Burrow, Andrew A; Kennedy, Joshua L JL; Clothier, Jeffery L JL; Becton, David L DL; Rule, Don D; Schaefer, G Bradley GB

Publication Date: 2021-05-11

Variant appearance in text: rs3918289

PubMed Link: 34064668

Variant Present in the following documents:

• Main text
• jpm-11-00394.pdf

View BVdb publication page

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Case report: severe toxicity in an African-American patient receiving FOLFOX carrying uncommon allelic variants in DPYD.

Pharmacogenomics

Sissung, Tristan M TM; Cordes, Lisa L; Peer, Cody J CJ; Gandhy, Shruti S; Redman, Jason J; Strauss, Julius J; Figg, William D WD

Publication Date: 2021-01

Variant appearance in text: DPYD: 1905C>G; N635K; rs3918289

PubMed Link: 33305610

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comprehensive Custom NGS Panel Validation for the Improvement of the Stratification of B-Acute Lymphoblastic Leukemia Patients.

Journal Of Personalized Medicine

Montaño, Adrián A; Hernández-Sánchez, Jesús J; Forero-Castro, Maribel M; Matorra-Miguel, María M; Lumbreras, Eva E; Miguel, Cristina C; Santos, Sandra S; Ramírez-Maldonado, Valentina V; Fuster, José Luís JL; de Las Heras, Natalia N; García-de Coca, Alfonso A; Sierra, Magdalena M; Dávila, Julio J; de la Fuente, Ignacio I; Olivier, Carmen C; Olazabal, Juan J; Martínez, Joaquín J; Vega-García, Nerea N; González, Teresa T; Hernández-Rivas, Jesús María JM; Benito, Rocío R

Publication Date: 2020-09-21

Variant appearance in text: rs3918289

PubMed Link: 32967112

Variant Present in the following documents:

• jpm-10-00137-s001.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: N635K; rs3918289

PubMed Link: 32707991

Variant Present in the following documents:

• Main text
• jcm-09-02342.pdf

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: rs3918289

PubMed Link: 31306493

Variant Present in the following documents:

• CPT-107-203-s004.pdf

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: N635K

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

View BVdb publication page

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LightSNiP assay is a good strategy for pharmacogenetics test.

Frontiers In Pharmacology

Cheli, Stefania S; Pietrantonio, Filippo F; Clementi, Emilio E; Falvella, Felicia S FS

Publication Date: 2015

Variant appearance in text: rs3918289

PubMed Link: 26082719

Variant Present in the following documents:

• Main text
• fphar-06-00114.pdf

View BVdb publication page

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The Affymetrix DMET Plus platform reveals unique distribution of ADME-related variants in ethnic Arabs.

Disease Markers

Wakil, Salma M SM; Nguyen, Cao C; Muiya, Nzioka P NP; Andres, Editha E; Lykowska-Tarnowska, Agnieszka A; Baz, Batoul B; Tahir, Asma I AI; Meyer, Brian F BF; Morahan, Grant G; Dzimiri, Nduna N

Publication Date: 2015

Variant appearance in text: rs3918289

PubMed Link: 25802476

Variant Present in the following documents:

• 542543.f1.xlsx, sheet 1

View BVdb publication page

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The RPTEC/TERT1 cell line models key renal cell responses to the environmental toxicants, benzo[a]pyrene and cadmium.

Toxicology Reports

Simon, B R BR; Wilson, M J MJ; Wickliffe, J K JK

Publication Date: 2014

Variant appearance in text: rs3918289

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

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