Publications:

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Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.

Nature Genetics

Schlosser, Pascal P; Scherer, Nora N; Grundner-Culemann, Franziska F; Monteiro-Martins, Sara S; Haug, Stefan S; Steinbrenner, Inga I; Uluvar, Burulça B; Wuttke, Matthias M; Cheng, Yurong Y; Ekici, Arif B AB; Gyimesi, Gergely G; Karoly, Edward D ED; Kotsis, Fruzsina F; Mielke, Johanna J; Gomez, Maria F MF; Yu, Bing B; Grams, Morgan E ME; Coresh, Josef J; Boerwinkle, Eric E; Köttgen, Michael M; Kronenberg, Florian F; Meiselbach, Heike H; Mohney, Robert P RP; Akilesh, Shreeram S; , ; Schmidts, Miriam M; Hediger, Matthias A MA; Schultheiss, Ulla T UT; Eckardt, Kai-Uwe KU; Oefner, Peter J PJ; Sekula, Peggy P; Li, Yong Y; Köttgen, Anna A

Publication Date: 2023-06-05

Variant appearance in text: rs2011425

PubMed Link: 37277652

Variant Present in the following documents:

• 41588_2023_1409_MOESM5_ESM.pdf

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Pharmacogenetics of tenofovir renal toxicity in HIV-positive Southern Africans.

Pharmacogenetics And Genomics

Mateza, Somila S; Bradford, Yuki Y; Maartens, Gary G; Sokhela, Simiso S; Chandiwana, Nomathemba C NC; Venter, Willem D F WDF; Post, Frank A FA; Ritchie, Marylyn D MD; Haas, David W DW; Sinxadi, Phumla P

Publication Date: 2023-04-24

Variant appearance in text: rs2011425

PubMed Link: 37099271

Variant Present in the following documents:

• Main text
• pgen-33-91.pdf

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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: rs2011425

PubMed Link: 36677060

Variant Present in the following documents:

• Main text
• metabolites-13-00134.pdf

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Pharmacogenetics and Schizophrenia-Can Genomics Improve the Treatment with Second-Generation Antipsychotics?

Biomedicines

Płaza, Olga O; Gałecki, Piotr P; Orzechowska, Agata A; Gałecka, Małgorzata M; Sobolewska-Nowak, Justyna J; Szulc, Agata A

Publication Date: 2022-12-07

Variant appearance in text: rs2011425

PubMed Link: 36551925

Variant Present in the following documents:

• biomedicines-10-03165.pdf

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Acute liver failure associated with lamotrigine in children with epilepsy: A report of two cases and thoughts on pharmacogenomics.

Epilepsy & Behavior Reports

Deng, Jie J; Fu, Zheng-Ran ZR; Wang, Long L; Liu, Jun J; Chen, Chun-Hong CH; Fang, Fang F; Wang, Xiao-Ling XL

Publication Date: 2022

Variant appearance in text: rs2011425

PubMed Link: 36345310

Variant Present in the following documents:

• Main text
• main.pdf

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Circulating free testosterone and risk of aggressive prostate cancer: Prospective and Mendelian randomisation analyses in international consortia.

International Journal Of Cancer

Watts, Eleanor L EL; Perez-Cornago, Aurora A; Fensom, Georgina K GK; Smith-Byrne, Karl K; Noor, Urwah U; Andrews, Colm D CD; Gunter, Marc J MJ; Holmes, Michael V MV; Martin, Richard M RM; Tsilidis, Konstantinos K KK; Albanes, Demetrius D; Barricarte, Aurelio A; Bueno-de-Mesquita, Bas B; Chen, Chu C; Cohn, Barbara A BA; Dimou, Niki L NL; Ferrucci, Luigi L; Flicker, Leon L; Freedman, Neal D ND; Giles, Graham G GG; Giovannucci, Edward L EL; Goodman, Gary E GE; Haiman, Christopher A CA; Hankey, Graeme J GJ; Huang, Jiaqi J; Huang, Wen-Yi WY; Hurwitz, Lauren M LM; Kaaks, Rudolf R; Knekt, Paul P; Kubo, Tatsuhiko T; Langseth, Hilde H; Laughlin, Gail G; Le Marchand, Loic L; Luostarinen, Tapio T; MacInnis, Robert J RJ; Mäenpää, Hanna O HO; Männistö, Satu S; Metter, E Jeffrey EJ; Mikami, Kazuya K; Mucci, Lorelei A LA; Olsen, Anja W AW; Ozasa, Kotaro K; Palli, Domenico D; Penney, Kathryn L KL; Platz, Elizabeth A EA; Rissanen, Harri H; Sawada, Norie N; Schenk, Jeannette M JM; Stattin, Pär P; Tamakoshi, Akiko A; Thysell, Elin E; Tsai, Chiaojung Jillian CJ; Tsugane, Shoichiro S; Vatten, Lars L; Weiderpass, Elisabete E; Weinstein, Stephanie J SJ; Wilkens, Lynne R LR; Yeap, Bu B BB; , ; , ; , ; , ; , ; Allen, Naomi E NE; Key, Timothy J TJ; Travis, Ruth C RC

Publication Date: 2022-10-01

Variant appearance in text: rs2011425

PubMed Link: 35579976

Variant Present in the following documents:

• IJC-151-1033-s001.pdf

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Pharmacogenetics of Dolutegravir Plasma Exposure Among Southern Africans With Human Immunodeficiency Virus.

The Journal Of Infectious Diseases

Cindi, Zinhle Z; Kawuma, Aida N AN; Maartens, Gary G; Bradford, Yuki Y; Venter, Francois F; Sokhela, Simiso S; Chandiwana, Nomathemba N; Wasmann, Roeland E RE; Denti, Paolo P; Wiesner, Lubbe L; Ritchie, Marylyn D MD; Haas, David W DW; Sinxadi, Phumla P

Publication Date: 2022-11-01

Variant appearance in text: rs2011425

PubMed Link: 35512135

Variant Present in the following documents:

• EMS145648-supplement-Supplementary_file.pdf

View BVdb publication page

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Variants in COMT, CYP3A5, CYP2B6, and ABCG2 Alter Quetiapine Pharmacokinetics.

Pharmaceutics

Zubiaur, Pablo P; Fernández-Campos, Paula P; Navares-Gómez, Marcos M; Soria-Chacartegui, Paula P; Villapalos-García, Gonzalo G; Román, Manuel M; Mejía-Abril, Gina G; Ochoa, Dolores D; Abad-Santos, Francisco F

Publication Date: 2021-09-28

Variant appearance in text: rs2011425

PubMed Link: 34683865

Variant Present in the following documents:

• Main text
• pharmaceutics-13-01573.pdf

View BVdb publication page

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The use of esketamine in comorbid treatment resistant depression and obsessive compulsive disorder following extensive pharmacogenomic testing: a case report.

Annals Of General Psychiatry

Matteo, Marcatili M; Cristian, Pellicioli P; Laura, Maggioni M; Federico, Motta M; Chiara, Redaelli R; Lorenzo, Ghelfi G; Michaela, Krivosova K; Sibilla, Matteo M; Roberto, Nava N; Fabrizia, Colmegna C; Antonios, Dakanalis D; Alice, Caldiroli C; Enrico, Capuzzi C; Beatrice, Benatti B; Francesca, Bertola B; Nicoletta, Villa V; Alberto, Piperno P; Silvia, Ippolito I; Massimo, Clerici C

Publication Date: 2021-09-16

Variant appearance in text: rs2011425

PubMed Link: 34530843

Variant Present in the following documents:

• Main text

View BVdb publication page

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PriME-PGx: La Princesa University Hospital Multidisciplinary Initiative for the Implementation of Pharmacogenetics.

Journal Of Clinical Medicine

Zubiaur, Pablo P; Mejía-Abril, Gina G; Navares-Gómez, Marcos M; Villapalos-García, Gonzalo G; Soria-Chacartegui, Paula P; Saiz-Rodríguez, Miriam M; Ochoa, Dolores D; Abad-Santos, Francisco F

Publication Date: 2021-08-24

Variant appearance in text: rs2011425

PubMed Link: 34501219

Variant Present in the following documents:

• Main text
• jcm-10-03772.pdf

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Pharmacogenomics Guided Prescription Changes Improved Medication Effectiveness in Patients With Mental Health-Related Disability: A Retrospective Cohort Analyses.

Frontiers In Genetics

Ahmed, Sanjida S; Tahir, Ramzan R; Akhtar, Umbreen U; Faiz, Mark M

Publication Date: 2021

Variant appearance in text: rs2011425

PubMed Link: 34413872

Variant Present in the following documents:

• Main text

View BVdb publication page

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Is vitamin D a modifiable risk factor for dental caries?

Wellcome Open Research

Dodhia, Serena A SA; West, Nicola X NX; Thomas, Steven J SJ; Timpson, Nicholas J NJ; Johansson, Ingegerd I; Lif Holgerson, Pernilla P; Dudding, Tom T; Haworth, Simon S

Publication Date: 2020

Variant appearance in text: rs2011425

PubMed Link: 34386609

Variant Present in the following documents:

• Main text
• wellcomeopenres-5-18849.pdf

View BVdb publication page

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Genetic Polymorphisms Associated With the Pharmacokinetics, Pharmacodynamics and Adverse Effects of Olanzapine, Aripiprazole and Risperidone.

Frontiers In Pharmacology

Soria-Chacartegui, Paula P; Villapalos-García, Gonzalo G; Zubiaur, Pablo P; Abad-Santos, Francisco F; Koller, Dora D

Publication Date: 2021

Variant appearance in text: rs2011425

PubMed Link: 34335273

Variant Present in the following documents:

• Main text

View BVdb publication page

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Drug-drug-gene interactions as mediators of adverse drug reactions to diclofenac and statins: a case report and literature review.

Arhiv Za Higijenu Rada I Toksikologiju

Božina, Nada N; Ganoci, Lana L; Simičević, Livija L; Gvozdanović, Katarina K; Domjanović, Iva Klarica IK; Fistrek Prlić, Margareta M; Križ, Tena T; Borić Bilušić, Ana A; Laganović, Mario M; Božina, Tamara T

Publication Date: 2021-06-28

Variant appearance in text: rs2011425

PubMed Link: 34187111

Variant Present in the following documents:

• Main text
• aiht-72-114.pdf

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Clozapine Metabolism is Associated With Absolute Neutrophil Count in Individuals With Treatment-Resistant Schizophrenia.

Frontiers In Pharmacology

Willcocks, Isabella R IR; Legge, Sophie E SE; Nalmpanti, Mariana M; Mazzeo, Lucy L; King, Adrian A; Jansen, John J; Helthuis, Marinka M; Owen, Michael J MJ; O'Donovan, Michael C MC; Walters, James T R JTR; Pardiñas, Antonio F AF

Publication Date: 2021

Variant appearance in text: rs2011425

PubMed Link: 33959025

Variant Present in the following documents:

• Main text

View BVdb publication page

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Strategies to Improve the Clinical Outcomes for Direct-to-Consumer Pharmacogenomic Tests.

Genes

Tafazoli, Alireza A; Guggilla, Rama Krishna RK; Kamel-Koleti, Zahra Z; Miltyk, Wojciech W

Publication Date: 2021-03-03

Variant appearance in text: rs2011425

PubMed Link: 33802585

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Implementation Science for Genomic Health Translation (INSIGHT) Study in Epilepsy: Protocol for a Learning Health Care System.

Jmir Research Protocols

Feofanova, Elena Valeryevna EV; Zhang, Guo-Qiang GQ; Lhatoo, Samden S; Metcalf, Ginger A GA; Boerwinkle, Eric E; Venner, Eric E

Publication Date: 2021-03-26

Variant appearance in text: rs2011425

PubMed Link: 33769305

Variant Present in the following documents:

• resprot_v10i3e25576_app2.pdf

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: rs2011425

PubMed Link: 33277594

Variant Present in the following documents:

• Main text
• 41598_2020_78231_MOESM1_ESM.pdf
• 41598_2020_Article_78231.pdf

View BVdb publication page

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Association between ESR1, ESR2, HER2, UGT1A4, and UGT2B7 polymorphisms and breast Cancer in Jordan: a case-control study.

Bmc Cancer

Al-Eitan, Laith N LN; Rababa'h, Doaa M DM; Alghamdi, Mansour A MA; Khasawneh, Rame H RH

Publication Date: 2019-12-30

Variant appearance in text: rs2011425

PubMed Link: 31888550

Variant Present in the following documents:

• Main text
• 12885_2019_Article_6490.pdf

View BVdb publication page

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Effects of Comedication and Genetic Factors on the Population Pharmacokinetics of Lamotrigine: A Prospective Analysis in Chinese Patients With Epilepsy.

Frontiers In Pharmacology

Wang, Zhan-Zhang ZZ; Zhang, Yue-Feng YF; Huang, Wen-Can WC; Wang, Xi-Pei XP; Ni, Xiao-Jiao XJ; Lu, Hao-Yang HY; Hu, Jin-Qing JQ; Deng, Shu-Hua SH; Zhu, Xiu-Qing XQ; Xie, Huan-Shan HS; Chen, Hong-Zhen HZ; Zhang, Ming M; Qiu, Chang C; Wen, Yu-Guan YG; Shang, De-Wei DW

Publication Date: 2019

Variant appearance in text: rs2011425

PubMed Link: 31404235

Variant Present in the following documents:

• Main text
• fphar-10-00832.pdf

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: rs2011425

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1

View BVdb publication page

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs2011425

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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Interaction between ABCG2 421C>A polymorphism and valproate in their effects on steady-state disposition of lamotrigine in adults with epilepsy.

British Journal Of Clinical Pharmacology

Klarica Domjanović, Iva I; Lovrić, Mila M; Trkulja, Vladimir V; Petelin-Gadže, Željka Ž; Ganoci, Lana L; Čajić, Ivana I; Božina, Nada N

Publication Date: 2018-09

Variant appearance in text: rs2011425

PubMed Link: 29791014

Variant Present in the following documents:

• Main text

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: rs2011425

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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Pharmacokinetics of lamotrigine and its metabolite N-2-glucuronide: Influence of polymorphism of UDP-glucuronosyltransferases and drug transporters.

British Journal Of Clinical Pharmacology

Milosheska, Daniela D; Lorber, Bogdan B; Vovk, Tomaž T; Kastelic, Matej M; Dolžan, Vita V; Grabnar, Iztok I

Publication Date: 2016-08

Variant appearance in text: rs2011425

PubMed Link: 27096250

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: rs2011425

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Genetic and Clinical Factors Affecting Plasma Clozapine Concentration.

The Primary Care Companion For Cns Disorders

Olsson, Eric E; Edman, Gunnar G; Bertilsson, Leif L; Hukic, Dzana Sudic DS; Lavebratt, Catharina C; Eriksson, Sven V SV; Ösby, Urban U

Publication Date: 2015

Variant appearance in text: rs2011425

PubMed Link: 26137357

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics

Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J

Publication Date: 2015-03-12

Variant appearance in text: rs2011425

PubMed Link: 25887915

Variant Present in the following documents:

• 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic variations and haplotype diversity of the UGT1 gene cluster in the Chinese population.

Plos One

Yang, Jing J; Cai, Lei L; Huang, Haiyan H; Liu, Bingya B; Wu, Qiang Q

Publication Date: 2012

Variant appearance in text: rs2011425

PubMed Link: 22514612

Variant Present in the following documents:

View BVdb publication page

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Mapping of the UGT1A locus identifies an uncommon coding variant that affects mRNA expression and protects from bladder cancer.

Human Molecular Genetics

Tang, Wei W; Fu, Yi-Ping YP; Figueroa, Jonine D JD; Malats, Núria N; Garcia-Closas, Montserrat M; Chatterjee, Nilanjan N; Kogevinas, Manolis M; Baris, Dalsu D; Thun, Michael M; Hall, Jennifer L JL; De Vivo, Immaculata I; Albanes, Demetrius D; Porter-Gill, Patricia P; Purdue, Mark P MP; Burdett, Laurie L; Liu, Luyang L; Hutchinson, Amy A; Myers, Timothy T; Tardón, Adonina A; Serra, Consol C; Carrato, Alfredo A; Garcia-Closas, Reina R; Lloreta, Josep J; Johnson, Alison A; Schwenn, Molly M; Karagas, Margaret R MR; Schned, Alan A; Black, Amanda A; Jacobs, Eric J EJ; Diver, W Ryan WR; Gapstur, Susan M SM; Virtamo, Jarmo J; Hunter, David J DJ; Fraumeni, Joseph F JF; Chanock, Stephen J SJ; Silverman, Debra T DT; Rothman, Nathaniel N; Prokunina-Olsson, Ludmila L

Publication Date: 2012-04-15

Variant appearance in text: rs2011425

PubMed Link: 22228101

Variant Present in the following documents:

• Main text

View BVdb publication page

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