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: V136I

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: V136I; rs61736512

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: V136I

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: V136I; rs61736512

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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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: V136I; rs61736512

PubMed Link: 33875422

Variant Present in the following documents:

• Main text

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Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.

Saudi Journal Of Biological Sciences

Aboul-Soud, Mourad A M MAM; Alzahrani, Alhussain J AJ; Mahmoud, Amer A

Publication Date: 2021-01

Variant appearance in text: CYP2D6: V136I; rs61736512

PubMed Link: 33424349

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

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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: 406G>A; Val136Met; rs61736512

PubMed Link: 32931151

Variant Present in the following documents:

• 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: V136I; rs61736512

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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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: V136I; rs61736512

PubMed Link: 32121156

Variant Present in the following documents:

• Main text
• genes-11-00262.pdf

View BVdb publication page

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A case report of multiple primary prostate tumors with differential drug sensitivity.

Nature Communications

Wilkinson, Scott S; Harmon, Stephanie A SA; Terrigino, Nicholas T NT; Karzai, Fatima F; Pinto, Peter A PA; Madan, Ravi A RA; VanderWeele, David J DJ; Lake, Ross R; Atway, Rayann R; Bright, John R JR; Carrabba, Nicole V NV; Trostel, Shana Y SY; Lis, Rosina T RT; Chun, Guinevere G; Gulley, James L JL; Merino, Maria J MJ; Choyke, Peter L PL; Ye, Huihui H; Dahut, William L WL; Turkbey, Baris B; Sowalsky, Adam G AG

Publication Date: 2020-02-13

Variant appearance in text: CYP2D6: V136I

PubMed Link: 32054861

Variant Present in the following documents:

• 41467_2020_14657_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Targeted next generation sequencing as a tool for precision medicine.

Bmc Medical Genomics

Gulilat, Markus M; Lamb, Tyler T; Teft, Wendy A WA; Wang, Jian J; Dron, Jacqueline S JS; Robinson, John F JF; Tirona, Rommel G RG; Hegele, Robert A RA; Kim, Richard B RB; Schwarz, Ute I UI

Publication Date: 2019-06-03

Variant appearance in text: CYP2D6: V136I; rs61736512

PubMed Link: 31159795

Variant Present in the following documents:

• 12920_2019_527_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

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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: N/A

PubMed Link: 30955239

Variant Present in the following documents:

View BVdb publication page

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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: 406G>A; V136I; rs61736512

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: V136I; rs61736512

PubMed Link: 29449575

Variant Present in the following documents:

• 41467_2017_2688_MOESM14_ESM.xls, sheet 3

View BVdb publication page

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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: V136I; rs61736512

PubMed Link: 28378927

Variant Present in the following documents:

• Main text
• CPT-102-688.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: V136I; rs61736512

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: 406G>A; Val136Met

PubMed Link: 27537706

Variant Present in the following documents:

• NIHMS802548-supplement-Table_S4.pdf

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Comparison of genome sequencing and clinical genotyping for pharmacogenes.

Clinical Pharmacology And Therapeutics

Yang, W W; Wu, G G; Broeckel, U U; Smith, C A CA; Turner, V V; Haidar, C E CE; Wang, S S; Carter, R R; Karol, S E SE; Neale, G G; Crews, K R KR; Yang, J J JJ; Mullighan, C G CG; Downing, J R JR; Evans, W E WE; Relling, M V MV

Publication Date: 2016-10

Variant appearance in text: CYP2D6: V136I

PubMed Link: 27311679

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 406G>A; V136I; rs61736512

PubMed Link: 25589003

Variant Present in the following documents:

• 40478_2014_167_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

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Polymorphic cytochrome P450 enzymes (CYPs) and their role in personalized therapy.

Plos One

Preissner, Sarah C SC; Hoffmann, Michael F MF; Preissner, Robert R; Dunkel, Mathias M; Gewiess, Andreas A; Preissner, Saskia S

Publication Date: 2013

Variant appearance in text: CYP2D6: V136I; rs61736512

PubMed Link: 24340040

Variant Present in the following documents:

• pone.0082562.s002.xlsx, sheet 1

View BVdb publication page

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Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics

Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S

Publication Date: 2013-11

Variant appearance in text: CYP2D6: V136I; rs61736512

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

View BVdb publication page

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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: V136I

PubMed Link: 23985325

Variant Present in the following documents:

• Main text

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: V136I

PubMed Link: 23356658

Variant Present in the following documents:

• 1471-2350-14-20-S6.pdf

View BVdb publication page

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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: V136I

PubMed Link: 23226058

Variant Present in the following documents:

• Main text

View BVdb publication page

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