Publications:

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Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Frontiers In Genetics

Huang, Yanlin Y; Liu, Chang C; Ding, Hongke H; Wang, Yunan Y; Yu, Lihua L; Guo, Fangfang F; Li, Fake F; Shi, Xiaomei X; Zhang, Yan Y; Yin, Aihua A

Publication Date: 2023

Variant appearance in text: CYP2B6: 499C>G; Pro167Ala

PubMed Link: 36923788

Variant Present in the following documents:

• Table3.xlsx, sheet 1

View BVdb publication page

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Pharmacogenes that demonstrate high association evidence according to CPIC, DPWG, and PharmGKB.

Frontiers In Medicine

Alshabeeb, Mohammad A MA; Alyabsi, Mesnad M; Aziz, Mohammad A MA; Abohelaika, Salah S

Publication Date: 2022

Variant appearance in text: rs3826711

PubMed Link: 36388934

Variant Present in the following documents:

• Main text
• fmed-09-1001876.pdf

View BVdb publication page

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Pharmacogenomics in drug-induced cardiotoxicity: Current status and the future.

Frontiers In Cardiovascular Medicine

Li, Mo-Yun MY; Peng, Li-Ming LM; Chen, Xiao-Ping XP

Publication Date: 2022

Variant appearance in text: CYP2B6: 499C>G

PubMed Link: 36312261

Variant Present in the following documents:

• Main text
• fcvm-09-966261.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: P167A; rs3826711

PubMed Link: 36068297

Variant Present in the following documents:

• Main text
• 41397_2022_Article_288.pdf

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: P167A

PubMed Link: 35181665

Variant Present in the following documents:

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

View BVdb publication page

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Sequencing of a Chinese tetralogy of Fallot cohort reveals clustering mutations in myogenic heart progenitors.

Jci Insight

Tang, Clara Sze Man CSM; Mononen, Mimmi M; Lam, Wai-Yee WY; Jin, Sheng Chih SC; Zhuang, Xuehan X; Garcia-Barcelo, Maria-Mercè MM; Lin, Qiongfen Q; Yang, Yujia Y; Sahara, Makoto M; Eroglu, Elif E; Chien, Kenneth R KR; Hong, Haifa H; Tam, Paul Kwong Hang PKH; Gruber, Peter J PJ

Publication Date: 2022-01-25

Variant appearance in text: CYP2B6: 499C>G; Pro167Ala

PubMed Link: 34905512

Variant Present in the following documents:

• jciinsight-7-152198-s012.xlsx, sheet 7

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: P167A; rs3826711

PubMed Link: 34621706

Variant Present in the following documents:

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

View BVdb publication page

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Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.

Plos Genetics

Yu, Mullin Ho Chung MHC; Chan, Marcus Chun Yin MCY; Chung, Claudia Ching Yan CCY; Li, Andrew Wang Tat AWT; Yip, Chara Yin Wa CYW; Mak, Christopher Chun Yu CCY; Chau, Jeffrey Fong Ting JFT; Lee, Mianne M; Fung, Jasmine Lee Fong JLF; Tsang, Mandy Ho Yin MHY; Chan, Joshua Chun Ki JCK; Wong, Wilfred Hing Sang WHS; Yang, Jing J; Chui, William Chun Ming WCM; Chung, Patrick Ho Yu PHY; Yang, Wanling W; Lee, So Lun SL; Chan, Godfrey Chi Fung GCF; Tam, Paul Kwong Hang PKH; Lau, Yu Lung YL; Tang, Clara Sze Man CSM; Yeung, Kit San KS; Chung, Brian Hon Yin BHY

Publication Date: 2021-02

Variant appearance in text: rs3826711

PubMed Link: 33600428

Variant Present in the following documents:

• pgen.1009323.s010.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: CYP2B6: P167A; rs3826711

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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Effect of sex and polymorphisms of CYP2B6 and UGT1A9 on the difference between the target-controlled infusion predicted and measured plasma propofol concentration.

Ja Clinical Reports

Fujita, Ai A; Hayamizu, Kengo K; Yoshihara, Tatsuya T; Zaitsu, Masayoshi M; Shiraishi, Fumie F; Arima, Hisatomi H; Matsuo, Kazumasa K; Shiokawa, Kanako K; Setoguchi, Hidekazu H; Sasaguri, Toshiyuki T

Publication Date: 2018-08-13

Variant appearance in text: rs3826711

PubMed Link: 32025958

Variant Present in the following documents:

• Main text
• 40981_2018_Article_196.pdf

View BVdb publication page

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: CYP2B6: 499C>G; rs3826711

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 19

View BVdb publication page

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Identification of predictors of drug sensitivity using patient-derived models of esophageal squamous cell carcinoma.

Nature Communications

Su, Dan D; Zhang, Dadong D; Jin, Jiaoyue J; Ying, Lisha L; Han, Miao M; Chen, Kaiyan K; Li, Bin B; Wu, Junzhou J; Xie, Zhenghua Z; Zhang, Fanrong F; Lin, Yihui Y; Cheng, Guoping G; Li, Jing-Yu JY; Huang, Minran M; Wang, Jinchao J; Wang, Kailai K; Zhang, Jianjun J; Li, Fugen F; Xiong, Lei L; Futreal, Andrew A; Mao, Weimin W

Publication Date: 2019-11-07

Variant appearance in text: CYP2B6: 499C>G; Pro167Ala; rs3826711

PubMed Link: 31700061

Variant Present in the following documents:

• 41467_2019_12846_MOESM18_ESM.xlsx, sheet 1

View BVdb publication page

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A Novel Silent Mutation in the L1CAM Gene Causing Fetal Hydrocephalus Detected by Whole-Exome Sequencing.

Frontiers In Genetics

Sun, Yixi Y; Li, Yanfeng Y; Chen, Min M; Luo, Yuqin Y; Qian, Yeqing Y; Yang, Yanmei Y; Lu, Hong H; Lou, Fenlan F; Dong, Minyue M

Publication Date: 2019

Variant appearance in text: CYP2B6: 499C>G; P167A; rs3826711

PubMed Link: 31572438

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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Efavirenz Metabolism: Influence of Polymorphic CYP2B6 Variants and Stereochemistry.

Drug Metabolism And Disposition: The Biological Fate Of Chemicals

Wang, Pan-Fen PF; Neiner, Alicia A; Kharasch, Evan D ED

Publication Date: 2019-10

Variant appearance in text: CYP2B6: P167A; rs3826711

PubMed Link: 31324697

Variant Present in the following documents:

• Main text

View BVdb publication page

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: CYP2B6: P167A

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 34
• 13073_2019_654_MOESM2_ESM.xlsx, sheet 64

View BVdb publication page

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Nicotine oxidation by genetic variants of CYP2B6 and in human brain microsomes.

Pharmacology Research & Perspectives

Bloom, Adam Joseph AJ; Wang, Pan-Fen PF; Kharasch, Evan D ED

Publication Date: 2019-04

Variant appearance in text: CYP2B6: P167A

PubMed Link: 30906561

Variant Present in the following documents:

• Main text
• PRP2-7-e00468.pdf

View BVdb publication page

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South-south collaboration on HIV/AIDS prevention and treatment research: when birds of a feather rarely flock together.

Globalization And Health

Fonseca, Bruna de Paula Fonseca E BPFE; Albuquerque, Priscila Costa PC; Noyons, Ed E; Zicker, Fabio F

Publication Date: 2018-03-01

Variant appearance in text: CYP2B6: 499C>G

PubMed Link: 29490665

Variant Present in the following documents:

• 12992_2018_341_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs3826711

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

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: P167A; rs3826711

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: P167A; rs3826711

PubMed Link: 27984508

Variant Present in the following documents:

• 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: 499C>G; P167A

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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The impact of genetic polymorphisms on the pharmacokinetics of efavirenz in African children.

British Journal Of Clinical Pharmacology

Bienczak, Andrzej A; Cook, Adrian A; Wiesner, Lubbe L; Olagunju, Adeniyi A; Mulenga, Veronica V; Kityo, Cissy C; Kekitiinwa, Addy A; Owen, Andrew A; Walker, A Sarah AS; Gibb, Diana M DM; McIlleron, Helen H; Burger, David D; Denti, Paolo P

Publication Date: 2016-07

Variant appearance in text: rs3826711

PubMed Link: 26991336

Variant Present in the following documents:

• Main text

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs3826711

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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A pharmacogenomic prospective randomized controlled trial of CYP2B6 polymorphisms and efavirenz dose adjustment among HIV-infected Thai patients: a pilot study.

Pharmacogenomics And Personalized Medicine

Damronglerd, Pansachee P; Sukasem, Chonlaphat C; Thipmontree, Wilawan W; Puangpetch, Apichaya A; Kiertiburanakul, Sasisopin S

Publication Date: 2015

Variant appearance in text: CYP2B6: 499C>G

PubMed Link: 26622191

Variant Present in the following documents:

• Main text

View BVdb publication page

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The use of pharmacogenetics in clinical practice for the treatment of individuals with HIV infection in Thailand.

Pharmacogenomics And Personalized Medicine

Bushyakanist, Asalaysa A; Puangpetch, Apichaya A; Sukasem, Chonlaphat C; Kiertiburanakul, Sasisopin S

Publication Date: 2015

Variant appearance in text: CYP2B6: 499C>G

PubMed Link: 26604812

Variant Present in the following documents:

• Main text

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: CYP2B6: P167A

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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PharmGKB summary: Efavirenz pathway, pharmacokinetics.

Pharmacogenetics And Genomics

McDonagh, Ellen M EM; Lau, Johnathan L JL; Alvarellos, Maria L ML; Altman, Russ B RB; Klein, Teri E TE

Publication Date: 2015-07

Variant appearance in text: rs3826711

PubMed Link: 25966836

Variant Present in the following documents:

• Main text

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: rs3826711

PubMed Link: 25802476

Variant Present in the following documents:

• 542543.f1.xlsx, sheet 1

View BVdb publication page

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Exploiting high-throughput cell line drug screening studies to identify candidate therapeutic agents in head and neck cancer.

Bmc Pharmacology & Toxicology

Nichols, Anthony C AC; Black, Morgan M; Yoo, John J; Pinto, Nicole N; Fernandes, Andrew A; Haibe-Kains, Benjamin B; Boutros, Paul C PC; Barrett, John W JW

Publication Date: 2014-11-27

Variant appearance in text: CYP2B6: P167A; rs3826711

PubMed Link: 25428177

Variant Present in the following documents:

• 40360_2014_350_MOESM2_ESM.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: rs3826711

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

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Pharmacogenetic markers of CYP2B6 associated with efavirenz plasma concentrations in HIV-1 infected Thai adults.

British Journal Of Clinical Pharmacology

Sukasem, Chonlaphat C; Cressey, Tim R TR; Prapaithong, Pattamawan P; Tawon, Yardpiroon Y; Pasomsub, Ekawat E; Srichunrusami, Chutatip C; Jantararoungtong, Thawinee T; Lallement, Marc M; Chantratita, Wasun W

Publication Date: 2012-12

Variant appearance in text: CYP2B6: 499C>G; rs3826711

PubMed Link: 22471906

Variant Present in the following documents:

• Main text

View BVdb publication page

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Presence of the CYP2B6 516G> T polymorphism, increased plasma Efavirenz concentrations and early neuropsychiatric side effects in South African HIV-infected patients.

Aids Research And Therapy

Gounden, Verena V; van Niekerk, Chantal C; Snyman, Tracy T; George, Jaya A JA

Publication Date: 2010-08-19

Variant appearance in text: rs3826711

PubMed Link: 20723261

Variant Present in the following documents:

• Main text
• 1742-6405-7-32.pdf

View BVdb publication page

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