Publications:

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Characterization of ADME Gene Variation in Colombian Population by Exome Sequencing.

Frontiers In Pharmacology

Silgado-Guzmán, Daniel Felipe DF; Angulo-Aguado, Mariana M; Morel, Adrien A; Niño-Orrego, María José MJ; Ruiz-Torres, Daniel-Armando DA; Contreras Bravo, Nora Constanza NC; Restrepo, Carlos Martin CM; Ortega-Recalde, Oscar O; Fonseca-Mendoza, Dora Janeth DJ

Publication Date: 2022

Variant appearance in text: rs2257212

PubMed Link: 35846994

Variant Present in the following documents:

• fphar-13-931531.pdf

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Genetic Heterogeneity, Therapeutic Hurdle Confronting Sorafenib and Immune Checkpoint Inhibitors in Hepatocellular Carcinoma.

Cancers

Atwa, Sara M SM; Odenthal, Margarete M; M El Tayebi, Hend H

Publication Date: 2021-08-27

Variant appearance in text: rs2257212

PubMed Link: 34503153

Variant Present in the following documents:

• Main text
• cancers-13-04343.pdf

View BVdb publication page

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Genetic Heterogeneity, Therapeutic Hurdle Confronting Sorafenib and Immune Checkpoint Inhibitors in Hepatocellular Carcinoma.

Cancers

Atwa, Sara M SM; Odenthal, Margarete M; El Tayebi, Hend M HM

Publication Date: 2021-08-27

Variant appearance in text: rs2257212

PubMed Link: 34503153

Variant Present in the following documents:

• Main text
• cancers-13-04343.pdf

View BVdb publication page

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Individualized Drugs' Selection by Evaluation of Drug Properties, Pharmacogenomics and Clinical Parameters: Performance of a Bioinformatic Tool Compared to a Clinically Established Counselling Process.

Pharmacogenomics And Personalized Medicine

Borro, Marina M; Gentile, Giovanna G; Preissner, Sally H SH; Pomes, Leda Marina LM; Gohlke, Björn-Oliver BO; Del Casale, Antonio A; Eckert, Andreas A; Marchetti, Paolo P; Preissner, Saskia S; Preissner, Robert R; Simmaco, Maurizio M

Publication Date: 2021

Variant appearance in text: rs2257212

PubMed Link: 34385834

Variant Present in the following documents:

• Main text
• pgpm-14-955.pdf

View BVdb publication page

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SLC15A4 Serves as a Novel Prognostic Biomarker and Target for Lung Adenocarcinoma.

Frontiers In Genetics

Huang, Hui H; Wang, Junwei J; Chen, Shibin S; He, HongJiang H; Shang, Yu Y; Guo, Xiaorong X; Lou, Ge G; Ji, Jingjing J; Guo, Mian M; Chen, Hong H; Yu, Shan S

Publication Date: 2021

Variant appearance in text: rs2257212

PubMed Link: 34168674

Variant Present in the following documents:

• Main text
• fgene-12-666607.pdf

View BVdb publication page

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Gene-environment interactions between air pollution and biotransformation enzymes and risk of birth defects.

Birth Defects Research

Padula, Amy M AM; Yang, Wei W; Schultz, Kathleen K; Lee, Cecilia C; Lurmann, Fred F; Hammond, S Katharine SK; Shaw, Gary M GM

Publication Date: 2021-05-15

Variant appearance in text: rs2257212

PubMed Link: 33569925

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs2257212

PubMed Link: 33424349

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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Variation in 100 relevant pharmacogenes among emiratis with insights from understudied populations.

Scientific Reports

Al-Mahayri, Zeina N ZN; Patrinos, George P GP; Wattanapokayakit, Sukanya S; Iemwimangsa, Nareenart N; Fukunaga, Koya K; Mushiroda, Taisei T; Chantratita, Wasun W; Ali, Bassam R BR

Publication Date: 2020-12-04

Variant appearance in text: rs2257212

PubMed Link: 33277594

Variant Present in the following documents:

• 41598_2020_78231_MOESM1_ESM.pdf

View BVdb publication page

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The genetic landscape of the human solute carrier (SLC) transporter superfamily.

Human Genetics

Schaller, Lena L; Lauschke, Volker M VM

Publication Date: 2019-12

Variant appearance in text: rs2257212

PubMed Link: 31679053

Variant Present in the following documents:

• 439_2019_Article_2081.pdf

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: rs2257212

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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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: rs2257212

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs2257212

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

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Characterization of ADME genes variation in Roma and 20 populations worldwide.

Plos One

Škarić-Jurić, Tatjana T; Tomas, Željka Ž; Zajc Petranović, Matea M; Božina, Nada N; Smolej Narančić, Nina N; Janićijević, Branka B; Salihović, Marijana Peričić MP

Publication Date: 2018

Variant appearance in text: rs2257212

PubMed Link: 30452466

Variant Present in the following documents:

• Main text
• pone.0207671.pdf

View BVdb publication page

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Genetic variation in biotransformation enzymes, air pollution exposures, and risk of spina bifida.

American Journal Of Medical Genetics. Part A

Padula, Amy M AM; Yang, Wei W; Schultz, Kathleen K; Lurmann, Fred F; Hammond, S Katharine SK; Shaw, Gary M GM

Publication Date: 2018-05

Variant appearance in text: rs2257212

PubMed Link: 29681089

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical Implementation of Pharmacogenetic Testing in a Hospital of the Spanish National Health System: Strategy and Experience Over 3 Years.

Clinical And Translational Science

Borobia, Alberto M AM; Dapia, Irene I; Tong, Hoi Y HY; Arias, Pedro P; Muñoz, Mario M; Tenorio, Jair J; Hernández, Rafael R; García García, Irene I; Gordo, Gema G; Ramírez, Elena E; Frías, Jesús J; Lapunzina, Pablo P; Carcas, Antonio J AJ

Publication Date: 2018-03

Variant appearance in text: rs2257212

PubMed Link: 29193749

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population.

Molecular Genetics And Genomics : Mgg

Yasukochi, Yoshiki Y; Sakuma, Jun J; Takeuchi, Ichiro I; Kato, Kimihiko K; Oguri, Mitsutoshi M; Fujimaki, Tetsuo T; Horibe, Hideki H; Yamada, Yoshiji Y

Publication Date: 2018-04

Variant appearance in text: rs2257212

PubMed Link: 29124443

Variant Present in the following documents:

• Main text
• 438_2017_Article_1394.pdf

View BVdb publication page

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Pharmacogenetic determinants of outcomes on triplet hepatic artery infusion and intravenous cetuximab for liver metastases from colorectal cancer (European trial OPTILIV, NCT00852228).

British Journal Of Cancer

Lévi, Francis F; Karaboué, Abdoulaye A; Saffroy, Raphaël R; Desterke, Christophe C; Boige, Valerie V; Smith, Denis D; Hebbar, Mohamed M; Innominato, Pasquale P; Taieb, Julien J; Carvalho, Carlos C; Guimbaud, Rosine R; Focan, Christian C; Bouchahda, Mohamed M; Adam, René R; Ducreux, Michel M; Milano, Gérard G; Lemoine, Antoinette A

Publication Date: 2017-09-26

Variant appearance in text: rs2257212

PubMed Link: 28817838

Variant Present in the following documents:

• bjc2017278a.pdf

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs2257212

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Evidence for extensive pleiotropy among pharmacogenes.

Pharmacogenomics

Oetjens, Matthew T MT; Bush, William S WS; Denny, Joshua C JC; Birdwell, Kelly K; Kodaman, Nuri N; Verma, Anurag A; Dilks, Holli H HH; Pendergrass, Sarah A SA; Ritchie, Marylyn D MD; Crawford, Dana C DC

Publication Date: 2016-06

Variant appearance in text: rs2257212

PubMed Link: 27249515

Variant Present in the following documents:

• Main text

View BVdb publication page

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SLCO1B1*5 polymorphism (rs4149056) is associated with chemotherapy-induced amenorrhea in premenopausal women with breast cancer: a prospective cohort study.

Bmc Cancer

Reimer, Toralf T; Kempert, Sarah S; Gerber, Bernd B; Thiesen, Hans-Jürgen HJ; Hartmann, Steffi S; Koczan, Dirk D

Publication Date: 2016-05-27

Variant appearance in text: rs2257212

PubMed Link: 27234217

Variant Present in the following documents:

• Main text
• 12885_2016_Article_2373.pdf

View BVdb publication page

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Cross-Comparison of Exome Analysis, Next-Generation Sequencing of Amplicons, and the iPLEX(®) ADME PGx Panel for Pharmacogenomic Profiling.

Frontiers In Pharmacology

Chua, Eng Wee EW; Cree, Simone L SL; Ton, Kim N T KN; Lehnert, Klaus K; Shepherd, Phillip P; Helsby, Nuala N; Kennedy, Martin A MA

Publication Date: 2016

Variant appearance in text: rs2257212

PubMed Link: 26858644

Variant Present in the following documents:

• Main text

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: rs2257212

PubMed Link: 26785747

Variant Present in the following documents:

• Main text
• 12863_2016_Article_329.pdf

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: rs2257212

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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SLC15A2 genomic variation is associated with the extraordinary response of sorafenib treatment: whole-genome analysis in patients with hepatocellular carcinoma.

Oncotarget

Lee, Yeon-Su YS; Kim, Bo Hyun BH; Kim, Byung Chul BC; Shin, Aesun A; Kim, Jin Sook JS; Hong, Seung-Hyun SH; Hwang, Jung-Ah JA; Lee, Jung Ahn JA; Nam, Seungyoon S; Lee, Sung Hoon SH; Bhak, Jong J; Park, Joong-Won JW

Publication Date: 2015-06-30

Variant appearance in text: rs2257212

PubMed Link: 25965825

Variant Present in the following documents:

• Main text
• oncotarget-06-16449.pdf

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: rs2257212

PubMed Link: 25802476

Variant Present in the following documents:

• 542543.f1.xlsx, sheet 1

View BVdb publication page

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Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: rs2257212

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.xls, sheet 1

View BVdb publication page

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The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research

Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR

Publication Date: 2014-12-16

Variant appearance in text: rs2257212

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 23
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 10

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: rs2257212

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: rs2257212

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

View BVdb publication page

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The pharmacogenomics of membrane transporters project: research at the interface of genomics and transporter pharmacology.

Clinical Pharmacology And Therapeutics

Kroetz, D L DL; Yee, S W SW; Giacomini, K M KM

Publication Date: 2010-01

Variant appearance in text: rs2257212

PubMed Link: 19940846

Variant Present in the following documents:

• Main text

View BVdb publication page

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