Publications:

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Predicting Dihydropyrimidine Dehydrogenase Deficiency and Related 5-Fluorouracil Toxicity: Opportunities and Challenges of DPYD Exon Sequencing and the Role of Phenotyping Assays.

International Journal Of Molecular Sciences

De Luca, Ottavia O; Salerno, Gerardo G; De Bernardini, Donatella D; Torre, Maria Simona MS; Simmaco, Maurizio M; Lionetto, Luana L; Gentile, Giovanna G; Borro, Marina M

Publication Date: 2022-11-11

Variant appearance in text: DPYD: 1974+75A>G; rs72728438

PubMed Link: 36430399

Variant Present in the following documents:

• Main text
• ijms-23-13923.pdf

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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: 1974+75A>G

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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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: rs72728438

PubMed Link: 33305610

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Journal Of Cellular And Molecular Medicine

Wu, Nan N; Zhang, Zhen Z; Zhou, Xi X; Zhao, Hengqiang H; Ming, Yue Y; Wu, Xue X; Zhang, Xian X; Yang, Xin-Zhuang XZ; Zhou, Meng M; Bao, Hua H; Chen, Weisheng W; Wu, Yong Y; Liu, Sen S; Wang, Huizi H; Niu, Yuchen Y; Li, Yalun Y; Zheng, Yu Y; Shao, Yang Y; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Li, Mei M; Sun, Yingli Y; Su, Jianzhong J; Zhang, Jianguo J; Xia, Weibo W; Qiu, Guixing G; Liu, Yong Y; Liu, Jiaqi J; Wu, Zhihong Z

Publication Date: 2020-05

Variant appearance in text: DPYD: 1974+75A>G

PubMed Link: 32277576

Variant Present in the following documents:

• JCMM-24-4931-s010.xlsx, sheet 1

View BVdb publication page

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A New Liver Expression Quantitative Trait Locus Map From 1,183 Individuals Provides Evidence for Novel Expression Quantitative Trait Loci of Drug Response, Metabolic, and Sex-Biased Phenotypes.

Clinical Pharmacology And Therapeutics

Etheridge, Amy S AS; Gallins, Paul J PJ; Jima, Dereje D; Broadaway, K Alaine KA; Ratain, Mark J MJ; Schuetz, Erin E; Schadt, Eric E; Schroder, Adrian A; Molony, Cliona C; Zhou, Yihui Y; Mohlke, Karen L KL; Wright, Fred A FA; Innocenti, Federico F

Publication Date: 2020-06

Variant appearance in text: rs72728438

PubMed Link: 31868224

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: DPYD: 1974+75A>G; rs72728438

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs72728438

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: rs72728438

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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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: rs72728438

PubMed Link: 23960437

Variant Present in the following documents:

• jkms-28-1129.pdf

View BVdb publication page

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