Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: DPYD: 2983G>T; Val995Phe

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Implementing Pharmacogenetic Testing in Gastrointestinal Cancers (IMPACT-GI): Study Protocol for a Pragmatic Implementation Trial for Establishing DPYD and UGT1A1 Screening to Guide Chemotherapy Dosing.

Frontiers In Oncology

Varughese, Lisa A LA; Bhupathiraju, Madhuri M; Hoffecker, Glenda G; Terek, Shannon S; Harr, Margaret M; Hakonarson, Hakon H; Cambareri, Christine C; Marini, Jessica J; Landgraf, Jeffrey J; Chen, Jinbo J; Kanter, Genevieve G; Lau-Min, Kelsey S KS; Massa, Ryan C RC; Damjanov, Nevena N; Reddy, Nandi J NJ; Oyer, Randall A RA; Teitelbaum, Ursina R UR; Tuteja, Sony S

Publication Date: 2022

Variant appearance in text: DPYD: 2983G>T; rs1801268

PubMed Link: 35865463

Variant Present in the following documents:

• Main text
• fonc-12-859846.pdf

View BVdb publication page

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Pharmacogenetics implementation in the clinics: information and guidelines for germline variants.

Cancer Drug Resistance (Alhambra, Calif.)

Olivera, Gladys G; Sendra, Luis L; Herrero, María José MJ; Berlanga, Pablo P; Gargallo, Pablo P; Yáñez, Yania Y; Urtasun, Andrea A; de Mora, Jaime Font JF; Castel, Victoria V; Cañete, Adela A; Aliño, Salvador F SF

Publication Date: 2019

Variant appearance in text: rs1801268

PubMed Link: 35582138

Variant Present in the following documents:

• cdr-2-53.pdf

View BVdb publication page

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Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases

Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z

Publication Date: 2022-02-21

Variant appearance in text: DPYD: 2983G>T

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: V995F

PubMed Link: 35181665

Variant Present in the following documents:

• 41525_2022_283_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Consensus of experts from the Spanish Pharmacogenetics and Pharmacogenomics Society and the Spanish Society of Medical Oncology for the genotyping of DPYD in cancer patients who are candidates for treatment with fluoropyrimidines.

Clinical & Translational Oncology : Official Publication Of The Federation Of Spanish Oncology Societies And Of The National Cancer Institute Of Mexico

García-Alfonso, P P; Saiz-Rodríguez, M M; Mondéjar, R R; Salazar, J J; Páez, D D; Borobia, A M AM; Safont, M J MJ; García-García, I I; Colomer, R R; García-González, X X; Herrero, M J MJ; López-Fernández, L A LA; Abad-Santos, F F

Publication Date: 2022-03

Variant appearance in text: DPYD: 2983G>T; Val995Phe; rs1801268

PubMed Link: 34773566

Variant Present in the following documents:

• Main text
• 12094_2021_Article_2708.pdf

View BVdb publication page

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Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.

Translational And Clinical Pharmacology

Kim, Byungwook B; Yoon, Deok Yong DY; Lee, SeungHwan S; Jang, In-Jin IJ; Yu, Kyung-Sang KS; Cho, Joo-Youn JY; Oh, Jaeseong J

Publication Date: 2021-09

Variant appearance in text: DPYD: 2983G>T; V995F; rs1801268

PubMed Link: 34621706

Variant Present in the following documents:

• Main text
• tcp-29-135-s001.xls, sheet 1
• tcp-29-135.pdf

View BVdb publication page

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PriME-PGx: La Princesa University Hospital Multidisciplinary Initiative for the Implementation of Pharmacogenetics.

Journal Of Clinical Medicine

Zubiaur, Pablo P; Mejía-Abril, Gina G; Navares-Gómez, Marcos M; Villapalos-García, Gonzalo G; Soria-Chacartegui, Paula P; Saiz-Rodríguez, Miriam M; Ochoa, Dolores D; Abad-Santos, Francisco F

Publication Date: 2021-08-24

Variant appearance in text: rs1801268

PubMed Link: 34501219

Variant Present in the following documents:

• Main text
• jcm-10-03772.pdf

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: rs1801268

PubMed Link: 34064668

Variant Present in the following documents:

• Main text
• jpm-11-00394.pdf

View BVdb publication page

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An Evaluation of the Diagnostic Accuracy of a Panel of Variants in DPYD and a Single Variant in ENOSF1 for Predicting Common Capecitabine Related Toxicities.

Cancers

Palles, Claire C; Fotheringham, Susan S; Chegwidden, Laura L; Lucas, Marie M; Kerr, Rachel R; Mozolowski, Guy G; Rosmarin, Dan D; Taylor, Jenny C JC; Tomlinson, Ian I; Kerr, David D

Publication Date: 2021-03-24

Variant appearance in text: DPYD: V995F; rs1801268

PubMed Link: 33805100

Variant Present in the following documents:

• cancers-13-01497-s001.pdf

View BVdb publication page

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Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.

Plos Genetics

Yu, Mullin Ho Chung MHC; Chan, Marcus Chun Yin MCY; Chung, Claudia Ching Yan CCY; Li, Andrew Wang Tat AWT; Yip, Chara Yin Wa CYW; Mak, Christopher Chun Yu CCY; Chau, Jeffrey Fong Ting JFT; Lee, Mianne M; Fung, Jasmine Lee Fong JLF; Tsang, Mandy Ho Yin MHY; Chan, Joshua Chun Ki JCK; Wong, Wilfred Hing Sang WHS; Yang, Jing J; Chui, William Chun Ming WCM; Chung, Patrick Ho Yu PHY; Yang, Wanling W; Lee, So Lun SL; Chan, Godfrey Chi Fung GCF; Tam, Paul Kwong Hang PKH; Lau, Yu Lung YL; Tang, Clara Sze Man CSM; Yeung, Kit San KS; Chung, Brian Hon Yin BHY

Publication Date: 2021-02

Variant appearance in text: DPYD: 2983G>T; rs1801268

PubMed Link: 33600428

Variant Present in the following documents:

• pgen.1009323.s003.xlsx, sheet 1

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: 2983G>T; V995F; rs1801268

PubMed Link: 33305610

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: DPYD: 2983G>T; Val995Phe; rs1801268

PubMed Link: 33228198

Variant Present in the following documents:

• Main text
• jpm-10-00237.pdf

View BVdb publication page

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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: V995F; rs1801268

PubMed Link: 32973300

Variant Present in the following documents:

• 41416_2020_1084_MOESM1_ESM.xlsx, sheet 1

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: V995F; rs1801268

PubMed Link: 32707991

Variant Present in the following documents:

• Main text
• jcm-09-02342.pdf

View BVdb publication page

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Population Pharmacokinetic and Pharmacogenetic Analysis of Mitotane in Patients with Adrenocortical Carcinoma: Towards Individualized Dosing.

Clinical Pharmacokinetics

Yin, Anyue A; Ettaieb, Madeleine H T MHT; Swen, Jesse J JJ; van Deun, Liselotte L; Kerkhofs, Thomas M A TMA; van der Straaten, Robert J H M RJHM; Corssmit, Eleonora P M EPM; Gelderblom, Hans H; Kerstens, Michiel N MN; Feelders, Richard A RA; Eekhoff, Marelise M; Timmers, Henri J L M HJLM; D'Avolio, Antonio A; Cusato, Jessica J; Guchelaar, Henk-Jan HJ; Haak, Harm R HR; Moes, Dirk Jan A R DJAR

Publication Date: 2021-01

Variant appearance in text: DPYD: 2983G>T; V995F; rs1801268

PubMed Link: 32607875

Variant Present in the following documents:

• 40262_2020_913_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction of DPYD and fluoropyrimidines.

European Journal Of Human Genetics : Ejhg

Lunenburg, Carin A T C CATC; van der Wouden, Cathelijne H CH; Nijenhuis, Marga M; Crommentuijn-van Rhenen, Mandy H MH; de Boer-Veger, Nienke J NJ; Buunk, Anne Marie AM; Houwink, Elisa J F EJF; Mulder, Hans H; Rongen, Gerard A GA; van Schaik, Ron H N RHN; van der Weide, Jan J; Wilffert, Bob B; Deneer, Vera H M VHM; Swen, Jesse J JJ; Guchelaar, Henk-Jan HJ

Publication Date: 2020-04

Variant appearance in text: DPYD: 2983G>T

PubMed Link: 31745289

Variant Present in the following documents:

• Main text
• 41431_2019_Article_540.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: rs1801268

PubMed Link: 31306493

Variant Present in the following documents:

• CPT-107-203-s001.xlsx, sheet 6
• CPT-107-203-s004.pdf

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: rs1801268

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s004.xlsx, sheet 2
• fpc-27-089-s005.xlsx, sheet 2

View BVdb publication page

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Polymorphisms in genes involved in the absorption, distribution, metabolism, and excretion of drugs in the Kazakhs of Kazakhstan.

Bmc Genetics

Iskakova, Aisha N AN; Romanova, Aliya A AA; Aitkulova, Akbota M AM; Sikhayeva, Nurgul S NS; Zholdybayeva, Elena V EV; Ramanculov, Erlan M EM

Publication Date: 2016-01-19

Variant appearance in text: rs1801268

PubMed Link: 26785747

Variant Present in the following documents:

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs1801268

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: DPYD: V995F

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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: rs1801268

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: rs1801268

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

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Screening for 392 polymorphisms in 141 pharmacogenes.

Biomedical Reports

Kim, Jason Yongha JY; Cheong, Hyun Sub HS; Park, Tae-Joon TJ; Shin, Hee Jung HJ; Seo, Doo Won DW; Na, Han Sung HS; Chung, Myeon Woo MW; Shin, Hyoung Doo HD

Publication Date: 2014-07

Variant appearance in text: DPYD: V995F; rs1801268

PubMed Link: 24944790

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comparative functional analysis of DPYD variants of potential clinical relevance to dihydropyrimidine dehydrogenase activity.

Cancer Research

Offer, Steven M SM; Fossum, Croix C CC; Wegner, Natalie J NJ; Stuflesser, Alexander J AJ; Butterfield, Gabriel L GL; Diasio, Robert B RB

Publication Date: 2014-05-01

Variant appearance in text: DPYD: V995F

PubMed Link: 24648345

Variant Present in the following documents:

• Main text

View BVdb publication page

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Screening of dihydropyrimidine dehydrogenase genetic variants by direct sequencing in different ethnic groups.

Journal Of Korean Medical Science

Shin, Joong-Gon JG; Cheong, Hyun Sub HS; Kim, Jason Yongha JY; Kim, Lyoung Hyo LH; Han, Chang Soo CS; Kim, Ji On JO; Kim, Hae Deun HD; Kim, Young Hoon YH; Chung, Myeon Woo MW; Han, Soon Young SY; Shin, Hyoung Doo HD

Publication Date: 2013-08

Variant appearance in text: DPYD: V995F; rs1801268

PubMed Link: 23960437

Variant Present in the following documents:

• Main text
• jkms-28-1129.pdf

View BVdb publication page

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