Publications:

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The genetic landscape of major drug metabolizing cytochrome P450 genes-an updated analysis of population-scale sequencing data.

The Pharmacogenomics Journal

Zhou, Yitian Y; Lauschke, Volker M VM

Publication Date: 2022-12

Variant appearance in text: CYP2D6: 1030C>T; Arg344Ter; rs72549347

PubMed Link: 36068297

Variant Present in the following documents:

• 41397_2022_288_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Proteogenomics of non-small cell lung cancer reveals molecular subtypes associated with specific therapeutic targets and immune evasion mechanisms.

Nature Cancer

Lehtiö, Janne J; Arslan, Taner T; Siavelis, Ioannis I; Pan, Yanbo Y; Socciarelli, Fabio F; Berkovska, Olena O; Umer, Husen M HM; Mermelekas, Georgios G; Pirmoradian, Mohammad M; Jönsson, Mats M; Brunnström, Hans H; Brustugun, Odd Terje OT; Purohit, Krishna Pinganksha KP; Cunningham, Richard R; Foroughi Asl, Hassan H; Isaksson, Sofi S; Arbajian, Elsa E; Aine, Mattias M; Karlsson, Anna A; Kotevska, Marija M; Gram Hansen, Carsten C; Drageset Haakensen, Vilde V; Helland, Åslaug Å; Tamborero, David D; Johansson, Henrik J HJ; Branca, Rui M RM; Planck, Maria M; Staaf, Johan J; Orre, Lukas M LM

Publication Date: 2021-11

Variant appearance in text: CYP2D6: 1030C>T; Arg344Trp

PubMed Link: 34870237

Variant Present in the following documents:

• EMS133264-supplement-Supplementary_Tables.xlsx, sheet 9

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: CYP2D6: R344X; rs72549347

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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Development and Analytical Validation of a 29 Gene Clinical Pharmacogenetic Genotyping Panel: Multi-Ethnic Allele and Copy Number Variant Detection.

Clinical And Translational Science

Scott, Stuart A SA; Scott, Erick R ER; Seki, Yoshinori Y; Chen, Annette J AJ; Wallsten, Richard R; Owusu Obeng, Aniwaa A; Botton, Mariana R MR; Cody, Neal N; Shi, Huanzhi H; Zhao, Geping G; Brake, Paul P; Nicoletti, Paola P; Yang, Yao Y; Delio, Maria M; Shi, Lisong L; Kornreich, Ruth R; Schadt, Eric E EE; Edelmann, Lisa L

Publication Date: 2021-01

Variant appearance in text: CYP2D6: 1030C>T; Arg344Ter; rs72549347

PubMed Link: 32931151

Variant Present in the following documents:

• CTS-14-204-s001.xlsx, sheet 7
• CTS-14-204-s001.xlsx, sheet 1

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: CYP2D6: R344X; rs72549347

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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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: CYP2D6: R344X; rs72549347

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s005.xlsx, sheet 2

View BVdb publication page

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Assessing the capability of massively parallel sequencing for opportunistic pharmacogenetic screening.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Ng, David D; Hong, Celine S CS; Singh, Larry N LN; Johnston, Jennifer J JJ; Mullikin, James C JC; Biesecker, Leslie G LG

Publication Date: 2017-03

Variant appearance in text: CYP2D6: 1030C>T; Arg344X

PubMed Link: 27537706

Variant Present in the following documents:

• NIHMS802548-supplement-Table_S4.pdf

View BVdb publication page

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: CYP2D6: R344*

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-8.xlsx, sheet 1

View BVdb publication page

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Introduction of the AmpliChip CYP450 Test to a South African cohort: a platform comparative prospective cohort study.

Bmc Medical Genetics

Dodgen, Tyren M TM; Hochfeld, Warren E WE; Fickl, Heidi H; Asfaha, Sahle M SM; Durandt, Chrisna C; Rheeder, Paul P; Drögemöller, Britt I BI; Wright, Galen E B GE; Warnich, Louise L; Labuschagne, Christiaan D J CD; van Schalkwyk, Antoinette A; Gaedigk, Andrea A; Pepper, Michael S MS

Publication Date: 2013-01-29

Variant appearance in text: CYP2D6: R344X

PubMed Link: 23356658

Variant Present in the following documents:

• 1471-2350-14-20-S6.pdf

View BVdb publication page

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