Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: CYP2B6: 1132C>T; Arg378Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Therapeutic and Toxic Effects of Valproic Acid Metabolites.

Metabolites

Shnayder, Natalia A NA; Grechkina, Violetta V VV; Khasanova, Aiperi K AK; Bochanova, Elena N EN; Dontceva, Evgenia A EA; Petrova, Marina M MM; Asadullin, Azat R AR; Shipulin, German A GA; Altynbekov, Kuanysh S KS; Al-Zamil, Mustafa M; Nasyrova, Regina F RF

Publication Date: 2023-01-16

Variant appearance in text: rs34097093

PubMed Link: 36677060

Variant Present in the following documents:

• Main text
• metabolites-13-00134.pdf

View BVdb publication page

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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: CYP2B6: R378X; rs34097093

PubMed Link: 36068297

Variant Present in the following documents:

• Main text
• 41397_2022_Article_288.pdf

View BVdb publication page

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Author Correction: Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications

Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R

Publication Date: 2022-05-10

Variant appearance in text: CYP2B6: R378X

PubMed Link: 35538087

Variant Present in the following documents:

• 41467_2022_30446_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications

Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R

Publication Date: 2022-02-23

Variant appearance in text: CYP2B6: R378X

PubMed Link: 35197475

Variant Present in the following documents:

• 41467_2022_28566_MOESM5_ESM.xlsx, sheet 3

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: CYP2B6: R378X

PubMed Link: 35181665

Variant Present in the following documents:

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

View BVdb publication page

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The Extent and Impact of Variation in ADME Genes in Sub-Saharan African Populations.

Frontiers In Pharmacology

da Rocha, Jorge E B JEB; Othman, Houcemeddine H; Botha, Gerrit G; Cottino, Laura L; Twesigomwe, David D; Ahmed, Samah S; Drögemöller, Britt I BI; Fadlelmola, Faisal M FM; Machanick, Philip P; Mbiyavanga, Mamana M; Panji, Sumir S; Wright, Galen E B GEB; Adebamowo, Clement C; Matshaba, Mogomotsi M; Ramsay, Michéle M; Simo, Gustave G; Simuunza, Martin C MC; Tiemessen, Caroline T CT; Baldwin, Sandra S; Chiano, Mathias M; Cox, Charles C; Gross, Annette S AS; Thomas, Pamela P; Gamo, Francisco-Javier FJ; Hazelhurst, Scott S

Publication Date: 2021

Variant appearance in text: rs34097093

PubMed Link: 34721006

Variant Present in the following documents:

• datasheet1.pdf

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: CYP2B6: R378X; rs34097093

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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Ataluren-Promising Therapeutic Premature Termination Codon Readthrough Frontrunner.

Pharmaceuticals (Basel, Switzerland)

Michorowska, Sylwia S

Publication Date: 2021-08-09

Variant appearance in text: CYP2B6: R378X

PubMed Link: 34451881

Variant Present in the following documents:

• Main text
• pharmaceuticals-14-00785.pdf

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: CYP2B6: R378X; rs34097093

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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Integrated multi-omics analysis of genomics, epigenomics, and transcriptomics in ovarian carcinoma.

Aging

Zheng, Mingjun M; Hu, Yuexin Y; Gou, Rui R; Wang, Jing J; Nie, Xin X; Li, Xiao X; Liu, Qing Q; Liu, Juanjuan J; Lin, Bei B

Publication Date: 2019-06-29

Variant appearance in text: CYP2B6: 1132C>T

PubMed Link: 31257224

Variant Present in the following documents:

• aging-11-102047-s002.xlsx, sheet 13
• aging-11-102047-s002.xlsx, sheet 11
• aging-11-102047-s002.xlsx, sheet 12

View BVdb publication page

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Antiretroviral therapy immunologic non-response in a Brazilian population: association study using pharmaco- and immunogenetic markers.

The Brazilian Journal Of Infectious Diseases : An Official Publication Of The Brazilian Society Of Infectious Diseases

Coelho, Antonio V C AVC; Moura, Ronald R de RR; Guimarães, Rafael L RL; Brandão, Lucas A C LAC; Crovella, Sergio S

Publication Date: 2018

Variant appearance in text: rs34097093

PubMed Link: 30392849

Variant Present in the following documents:

• Main text
• main.pdf

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: CYP2B6: R378X; rs34097093

PubMed Link: 28378927

Variant Present in the following documents:

• Main text
• CPT-102-688.pdf

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: CYP2B6: R378X; rs34097093

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s004.xlsx, sheet 2
• fpc-27-089-s005.xlsx, sheet 2

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: CYP2B6: 1132C>T; R378*

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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Polymorphisms in genes involved in the absorption, distribution, metabolism, and excretion of drugs in the Kazakhs of Kazakhstan.

Bmc Genetics

Iskakova, Aisha N AN; Romanova, Aliya A AA; Aitkulova, Akbota M AM; Sikhayeva, Nurgul S NS; Zholdybayeva, Elena V EV; Ramanculov, Erlan M EM

Publication Date: 2016-01-19

Variant appearance in text: rs34097093

PubMed Link: 26785747

Variant Present in the following documents:

View BVdb publication page

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The Affymetrix DMET Plus platform reveals unique distribution of ADME-related variants in ethnic Arabs.

Disease Markers

Wakil, Salma M SM; Nguyen, Cao C; Muiya, Nzioka P NP; Andres, Editha E; Lykowska-Tarnowska, Agnieszka A; Baz, Batoul B; Tahir, Asma I AI; Meyer, Brian F BF; Morahan, Grant G; Dzimiri, Nduna N

Publication Date: 2015

Variant appearance in text: rs34097093

PubMed Link: 25802476

Variant Present in the following documents:

• 542543.f1.xlsx, sheet 1

View BVdb publication page

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: CYP2B6: R378*

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-6.xlsx, sheet 1
• NIHMS630249-supplement-5.xlsx, sheet 1

View BVdb publication page

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The RPTEC/TERT1 cell line models key renal cell responses to the environmental toxicants, benzo[a]pyrene and cadmium.

Toxicology Reports

Simon, B R BR; Wilson, M J MJ; Wickliffe, J K JK

Publication Date: 2014

Variant appearance in text: rs34097093

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

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Screening for 392 polymorphisms in 141 pharmacogenes.

Biomedical Reports

Kim, Jason Yongha JY; Cheong, Hyun Sub HS; Park, Tae-Joon TJ; Shin, Hee Jung HJ; Seo, Doo Won DW; Na, Han Sung HS; Chung, Myeon Woo MW; Shin, Hyoung Doo HD

Publication Date: 2014-07

Variant appearance in text: CYP2B6: R378X; rs34097093

PubMed Link: 24944790

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variants associated with addictive behavior in Colombian addicted and non-addicted to heroin or cocaine.

Colombia Medica (Cali, Colombia)

Isaza, Carlos C; Henao, Julieta J; Beltrán, Leonardo L; Porras, Liliana L; Gonzalez, Martha M; Cruz, Raquel R; Carracedo, Angel A

Publication Date: 2013-01

Variant appearance in text: rs34097093

PubMed Link: 24892317

Variant Present in the following documents:

• Main text
• 1657-9534-cm-44-01-00019.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: CYP2B6: R378*; rs34097093

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-4.xlsx, sheet 1

View BVdb publication page

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Multi-ethnic cytochrome-P450 copy number profiling: novel pharmacogenetic alleles and mechanism of copy number variation formation.

The Pharmacogenomics Journal

Martis, S S; Mei, H H; Vijzelaar, R R; Edelmann, L L; Desnick, R J RJ; Scott, S A SA

Publication Date: 2013-12

Variant appearance in text: CYP2B6: R378X

PubMed Link: 23164804

Variant Present in the following documents:

• Main text
• nihms414574.pdf

View BVdb publication page

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Underlying genetic structure impacts the association between CYP2B6 polymorphisms and response to efavirenz and nevirapine.

Aids (London, England)

Frasco, Melissa A MA; Mack, Wendy J WJ; Van Den Berg, David D; Aouizerat, Bradley E BE; Anastos, Kathryn K; Cohen, Mardge M; De Hovitz, Jack J; Golub, Elizabeth T ET; Greenblatt, Ruth M RM; Liu, Chenglong C; Conti, David V DV; Pearce, Celeste L CL

Publication Date: 2012-10-23

Variant appearance in text: rs34097093

PubMed Link: 22951632

Variant Present in the following documents:

• Main text

View BVdb publication page

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Analysis of pharmacogenetic traits in two distinct South African populations.

Human Genomics

Ikediobi, Ogechi O; Aouizerat, Bradley B; Xiao, Yuanyuan Y; Gandhi, Monica M; Gebhardt, Stefan S; Warnich, Louise L

Publication Date: 2011-05

Variant appearance in text: rs34097093

PubMed Link: 21712189

Variant Present in the following documents:

• Main text

View BVdb publication page

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CYP2B6 983T>C polymorphism is prevalent in West Africa but absent in Papua New Guinea: implications for HIV/AIDS treatment.

British Journal Of Clinical Pharmacology

Mehlotra, Rajeev K RK; Bockarie, Moses J MJ; Zimmerman, Peter A PA

Publication Date: 2007-09

Variant appearance in text: CYP2B6: R378X

PubMed Link: 17391322

Variant Present in the following documents:

• Main text

View BVdb publication page

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