Publications:

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Characterization of Novel CYP2D6 Alleles across Sub-Saharan African Populations.

Journal Of Personalized Medicine

Wang, Wendy Y WY; Twesigomwe, David D; Nofziger, Charity C; Turner, Amy J AJ; Helmecke, Lena-Sophie LS; Broeckel, Ulrich U; Derezinski, Ashley D AD; Hazelhurst, Scott S; Gaedigk, Andrea A

Publication Date: 2022-09-24

Variant appearance in text: CYP2D6: V338M

PubMed Link: 36294714

Variant Present in the following documents:

• Main text
• jpm-12-01575.pdf

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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: V338M; rs59421388

PubMed Link: 36068297

Variant Present in the following documents:

• Main text
• 41397_2022_Article_288.pdf

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Pharmacogenetics of Breast Cancer Treatments: A Sub-Saharan Africa Perspective.

Pharmacogenomics And Personalized Medicine

Nthontho, Keneuoe Cecilia KC; Ndlovu, Andrew Khulekani AK; Sharma, Kirthana K; Kasvosve, Ishmael I; Hertz, Daniel Louis DL; Paganotti, Giacomo Maria GM

Publication Date: 2022

Variant appearance in text: CYP2D6: V338M

PubMed Link: 35761855

Variant Present in the following documents:

• Main text
• pgpm-15-613.pdf

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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: V338M; rs59421388

PubMed Link: 34621706

Variant Present in the following documents:

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

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Precision Medicine into Clinical Practice: A Web-Based Tool Enables Real-Time Pharmacogenetic Assessment of Tailored Treatments in Psychiatric Disorders.

Journal Of Personalized Medicine

Zampatti, Stefania S; Fabrizio, Carlo C; Ragazzo, Michele M; Campoli, Giulia G; Caputo, Valerio V; Strafella, Claudia C; Pellicano, Clelia C; Cascella, Raffaella R; Spalletta, Gianfranco G; Petrosini, Laura L; Caltagirone, Carlo C; Termine, Andrea A; Giardina, Emiliano E

Publication Date: 2021-08-27

Variant appearance in text: CYP2D6: 1012G>A; rs59421388

PubMed Link: 34575628

Variant Present in the following documents:

• Main text

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Pharmacogene Sequencing of a Gabonese Population with Severe Plasmodium falciparum Malaria Reveals Multiple Novel Variants with Putative Relevance for Antimalarial Treatment.

Antimicrobial Agents And Chemotherapy

Pernaute-Lau, Leyre L; Adegnika, Ayola Akim AA; Zhou, Yitian Y; Zinsou, Jeannot F JF; Gil, Jose Pedro JP; Krishna, Sanjeev S; Kremsner, Peter G PG; Lauschke, Volker M VM; Velavan, Thirumalaisamy P TP

Publication Date: 2021-06-17

Variant appearance in text: CYP2D6: V338M; rs59421388

PubMed Link: 33875422

Variant Present in the following documents:

• Main text

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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: 1012G>A; Val338Met; rs59421388

PubMed Link: 32931151

Variant Present in the following documents:

• CTS-14-204-s001.xlsx, sheet 1

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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: V338M; rs59421388

PubMed Link: 32607875

Variant Present in the following documents:

• 40262_2020_913_MOESM3_ESM.xlsx, sheet 1

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The Metabolization Profile of the CYP2D6 Gene in Amerindian Populations: A Review.

Genes

Leitão, Luciana P C LPC; Souza, Tatiane P TP; Rodrigues, Juliana C G JCG; Fernandes, Marianne R MR; Santos, Sidney S; Santos, Ney P C NPC

Publication Date: 2020-02-28

Variant appearance in text: CYP2D6: V338M; rs59421388

PubMed Link: 32121156

Variant Present in the following documents:

• Main text
• genes-11-00262.pdf

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A functional polymorphism in the ATP-Binding Cassette B1 transporter predicts pharmacologic response to combination of nortriptyline and morphine in neuropathic pain patients.

Pain

Benavides, Rodrigo R; Vsevolozhskaya, Olga O; Cattaneo, Stefano S; Zaykin, Dmitri D; Brenton, Ashley A; Parisien, Marc M; Verma, Vivek V; Khoury, Samar S; Gilron, Ian I; Diatchenko, Luda L

Publication Date: 2020-03

Variant appearance in text: CYP2D6: V338M; rs59421388

PubMed Link: 31738228

Variant Present in the following documents:

• Main text

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Interrogation of CYP2D6 Structural Variant Alleles Improves the Correlation Between CYP2D6 Genotype and CYP2D6-Mediated Metabolic Activity.

Clinical And Translational Science

Dalton, Rachel R; Lee, Seung-Been SB; Claw, Katrina G KG; Prasad, Bhagwat B; Phillips, Brian R BR; Shen, Danny D DD; Wong, Lai Hong LH; Fade, Mitch M; McDonald, Matthew G MG; Dunham, Maitreya J MJ; Fowler, Douglas M DM; Rettie, Allan E AE; Schuetz, Erin E; Thornton, Timothy A TA; Nickerson, Deborah A DA; Gaedigk, Andrea A; Thummel, Kenneth E KE; Woodahl, Erica L EL

Publication Date: 2020-01

Variant appearance in text: CYP2D6: V338M

PubMed Link: 31536170

Variant Present in the following documents:

• Main text
• CTS-13-147-s007.pdf
• CTS-13-147.pdf

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Genetic analysis of pharmacogenomic VIP variants in the Blang population from Yunnan Province of China.

Molecular Genetics & Genomic Medicine

Zhang, Chan C; Guo, Weiwei W; Cheng, Yujing Y; Li, Qi Q; Yang, Xin X; Dai, Run R; Zhu, Linhao L; Chen, Wanlu W

Publication Date: 2019-05

Variant appearance in text: CYP2D6: Val338Met; rs59421388

PubMed Link: 30955239

Variant Present in the following documents:

• Main text

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Effects of cytochrome P450 single nucleotide polymorphisms on methadone metabolism and pharmacodynamics.

Biochemical Pharmacology

Ahmad, Taha T; Valentovic, Monica A MA; Rankin, Gary O GO

Publication Date: 2018-07

Variant appearance in text: CYP2D6: 1012G>A; V338M; rs59421388

PubMed Link: 29458047

Variant Present in the following documents:

• Main text

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Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications

Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M

Publication Date: 2018-02-15

Variant appearance in text: CYP2D6: V338M; rs59421388

PubMed Link: 29449575

Variant Present in the following documents:

• 41467_2017_2688_MOESM14_ESM.xls, sheet 3

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Worldwide Distribution of Cytochrome P450 Alleles: A Meta-analysis of Population-scale Sequencing Projects.

Clinical Pharmacology And Therapeutics

Zhou, Y Y; Ingelman-Sundberg, M M; Lauschke, V M VM

Publication Date: 2017-10

Variant appearance in text: CYP2D6: V338M; rs59421388

PubMed Link: 28378927

Variant Present in the following documents:

• Main text

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Analysis of Genetic Variation in CYP450 Genes for Clinical Implementation.

Plos One

Goh, Liuh Ling LL; Lim, Chia Wei CW; Sim, Wey Cheng WC; Toh, Li Xian LX; Leong, Khai Pang KP

Publication Date: 2017

Variant appearance in text: CYP2D6: V338M; rs59421388

PubMed Link: 28046094

Variant Present in the following documents:

• Main text
• pone.0169233.pdf

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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: V338M; rs59421388

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s005.xlsx, sheet 2

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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: 1012G>A; Val338Met

PubMed Link: 27537706

Variant Present in the following documents:

• NIHMS802548-supplement-Table_S4.pdf

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Long-Read Single Molecule Real-Time Full Gene Sequencing of Cytochrome P450-2D6.

Human Mutation

Qiao, Wanqiong W; Yang, Yao Y; Sebra, Robert R; Mendiratta, Geetu G; Gaedigk, Andrea A; Desnick, Robert J RJ; Scott, Stuart A SA

Publication Date: 2016-03

Variant appearance in text: CYP2D6: V338M; rs59421388

PubMed Link: 26602992

Variant Present in the following documents:

• Main text

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Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications

Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP

Publication Date: 2014-12-24

Variant appearance in text: CYP2D6: 1012G>A; V338M; rs59421388

PubMed Link: 25589003

Variant Present in the following documents:

• 40478_2014_167_MOESM1_ESM.xlsx, sheet 6

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Distribution of genetic polymorphisms of genes encoding drug metabolizing enzymes & drug transporters - a review with Indian perspective.

The Indian Journal Of Medical Research

Umamaheswaran, Gurusamy G; Kumar, Dhakchinamoorthi Krishna DK; Adithan, Chandrasekaran C

Publication Date: 2014-01

Variant appearance in text: CYP2D6: Val338Met; rs59421388

PubMed Link: 24604039

Variant Present in the following documents:

• IJMR-139-27.pdf

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Common CYP2D6 polymorphisms affecting alternative splicing and transcription: long-range haplotypes with two regulatory variants modulate CYP2D6 activity.

Human Molecular Genetics

Wang, Danxin D; Poi, Ming J MJ; Sun, Xiaochun X; Gaedigk, Andrea A; Leeder, J Steven JS; Sadee, Wolfgang W

Publication Date: 2014-01-01

Variant appearance in text: CYP2D6: V338M; rs59421388

PubMed Link: 23985325

Variant Present in the following documents:

• Main text

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Role of cytochrome P450 genotype in the steps toward personalized drug therapy.

Pharmacogenomics And Personalized Medicine

Cavallari, Larisa H LH; Jeong, Hyunyoung H; Bress, Adam A

Publication Date: 2011

Variant appearance in text: CYP2D6: V338M

PubMed Link: 23226058

Variant Present in the following documents:

• Main text
• pgpm-4-123.pdf

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Identification of new alleles and the determination of alleles and genotypes frequencies at the CYP2D6 gene in Emiratis.

Plos One

Qumsieh, Rula Y RY; Ali, Bassam R BR; Abdulrazzaq, Yousef M YM; Osman, Ossama O; Akawi, Nadia A NA; Bastaki, Salim M A SM

Publication Date: 2011

Variant appearance in text: CYP2D6: V338M

PubMed Link: 22216145

Variant Present in the following documents:

• Main text
• pone.0028943.pdf

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Novel variants of major drug-metabolising enzyme genes in diverse African populations and their predicted functional effects.

Human Genomics

Matimba, Alice A; Del-Favero, Jurgen J; Van Broeckhoven, Christine C; Masimirembwa, Collen C

Publication Date: 2009-01

Variant appearance in text: CYP2D6: V338M

PubMed Link: 19164093

Variant Present in the following documents:

• Main text
• 1479-7364-3-2-169.pdf

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