Publications:

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: DPYD: P1023T; rs114096998

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Germline variants in cancer therapy.

Cancer Drug Resistance (Alhambra, Calif.)

Kaehler, Meike M; Cascorbi, Ingolf I

Publication Date: 2019

Variant appearance in text: DPYD: P1023T

PubMed Link: 35582146

Variant Present in the following documents:

• cdr-2-18.pdf

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: 3067C>A; P1023T

PubMed Link: 35181665

Variant Present in the following documents:

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

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: DPYD: P1023T; rs114096998

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

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

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: rs114096998

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: P1023T; rs114096998

PubMed Link: 32973300

Variant Present in the following documents:

• Main text
• 41416_2020_Article_1084.pdf
• 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: P1023T; rs114096998

PubMed Link: 32707991

Variant Present in the following documents:

• Main text
• jcm-09-02342.pdf

View BVdb publication page

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A comprehensive population-based study comparing the phenotype and genotype in a pretherapeutic screen of dihydropyrimidine dehydrogenase deficiency.

British Journal Of Cancer

Pallet, Nicolas N; Hamdane, Salma S; Garinet, Simon S; Blons, Hélène H; Zaanan, Aziz A; Paillaud, Elena E; Taieb, Julien J; Laprevote, Olivier O; Loriot, Marie-Anne MA; Narjoz, Céline C

Publication Date: 2020-09

Variant appearance in text: DPYD: 3067C>A; P1023T; rs114096998

PubMed Link: 32595208

Variant Present in the following documents:

• 41416_2020_962_MOESM1_ESM.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: rs114096998

PubMed Link: 31306493

Variant Present in the following documents:

• CPT-107-203-s004.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: P1023T

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

View BVdb publication page

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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: P1023T

PubMed Link: 27727460

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene

Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D

Publication Date: 2017-01-05

Variant appearance in text: DPYD: P1023T; rs114096998

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

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: P1023T

PubMed Link: 24648345

Variant Present in the following documents:

• Main text

View BVdb publication page

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A DPYD variant (Y186C) in individuals of african ancestry is associated with reduced DPD enzyme activity.

Clinical Pharmacology And Therapeutics

Offer, S M SM; Lee, A M AM; Mattison, L K LK; Fossum, C C; Wegner, N J NJ; Diasio, R B RB

Publication Date: 2013-07

Variant appearance in text: DPYD: P1023T

PubMed Link: 23588312

Variant Present in the following documents:

• Main text
• nihms524159.pdf

View BVdb publication page

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