Publications:

---

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: CYP2C9: H251R; rs2256871

PubMed Link: 36068297

Variant Present in the following documents:

• Main text
• 41397_2022_Article_288.pdf

View BVdb publication page

---

Pharmacogenetics of Praziquantel Metabolism: Evaluating the Cytochrome P450 Genes of Zimbabwean Patients During a Schistosomiasis Treatment.

Frontiers In Genetics

Zdesenko, Grace G; Mduluza, Takafira T; Mutapi, Francisca F

Publication Date: 2022

Variant appearance in text: CYP2C9: His251Arg; rs2256871

PubMed Link: 35754834

Variant Present in the following documents:

• Main text
• fgene-13-914372.pdf

View BVdb publication page

---

Genetic Variant ABCC1 rs45511401 Is Associated with Increased Response to Statins in Patients with Familial Hypercholesterolemia.

Pharmaceutics

Dagli-Hernandez, Carolina C; Borges, Jéssica Bassani JB; Marçal, Elisangela da Silva Rodrigues EDSR; de Freitas, Renata Caroline Costa RCC; Mori, Augusto Akira AA; Gonçalves, Rodrigo Marques RM; Faludi, Andre Arpad AA; de Oliveira, Victor Fernandes VF; Ferreira, Glaucio Monteiro GM; Bastos, Gisele Medeiros GM; Zhou, Yitian Y; Lauschke, Volker M VM; Cerda, Alvaro A; Hirata, Mario Hiroyuki MH; Hirata, Rosario Dominguez Crespo RDC

Publication Date: 2022-04-27

Variant appearance in text: CYP2C9: 752A>G; His251Arg; rs2256871

PubMed Link: 35631530

Variant Present in the following documents:

• pharmaceutics-14-00944.pdf

View BVdb publication page

---

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: CYP2C9: H251R

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

---

Identification of pharmacogenetic variants from large scale next generation sequencing data in the Saudi population.

Plos One

Goljan, Ewa E; Abouelhoda, Mohammed M; ElKalioby, Mohamed M MM; Jabaan, Amjad A; Alghithi, Nada N; Meyer, Brian F BF; Monies, Dorota D

Publication Date: 2022

Variant appearance in text: CYP2C9: H251R; rs2256871

PubMed Link: 35089958

Variant Present in the following documents:

• Main text
• pone.0263137.pdf
• pone.0263137.s001.xlsx, sheet 1

View BVdb publication page

---

Warfarin Pharmacogenomics for Precision Medicine in Real-Life Clinical Practice in Southern Africa: Harnessing 73 Variants in 29 Pharmacogenes.

Omics : A Journal Of Integrative Biology

Muyambo, Sarudzai S; Ndadza, Arinao A; Soko, Nyarai D ND; Kruger, Bianca B; Kadzirange, Gerard G; Chimusa, Emile E; Masimirembwa, Collen M CM; Ntsekhe, Mpiko M; Nhachi, Charles F B CFB; Dandara, Collet C

Publication Date: 2022-01

Variant appearance in text: rs2256871

PubMed Link: 34958284

Variant Present in the following documents:

• Main text
• omi.2021.0199.pdf

View BVdb publication page

---

Warfarin Pharmacogenomics for Precision Medicine in Real-Life Clinical Practice in Southern Africa: Harnessing 73 Variants in 29 Pharmacogenes.

Omics : A Journal Of Integrative Biology

Muyambo, Sarudzai S; Ndadza, Arinao A; Soko, Nyarai D ND; Kruger, Bianca B; Kadzirange, Gerard G; Chimusa, Emile E; Masimirembwa, Collen M CM; Ntsekhe, Mpiko M; Nhachi, Charles F B CFB; Dandara, Collet C

Publication Date: 2021-12-24

Variant appearance in text: rs2256871

PubMed Link: 34958284

Variant Present in the following documents:

• Main text
• omi.2021.0199.pdf

View BVdb publication page

---

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: CYP2C9: H251R; rs2256871

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

---

Implementing Pharmacogenomics Testing: Single Center Experience at Arkansas Children's Hospital.

Journal Of Personalized Medicine

Gill, Pritmohinder S PS; Yu, Feliciano B FB; Porter-Gill, Patricia A PA; Boyanton, Bobby L BL; Allen, Judy C JC; Farrar, Jason E JE; Veerapandiyan, Aravindhan A; Prodhan, Parthak P; Bielamowicz, Kevin J KJ; Sellars, Elizabeth E; Burrow, Andrew A; Kennedy, Joshua L JL; Clothier, Jeffery L JL; Becton, David L DL; Rule, Don D; Schaefer, G Bradley GB

Publication Date: 2021-05-11

Variant appearance in text: rs2256871

PubMed Link: 34064668

Variant Present in the following documents:

• Main text
• jpm-11-00394.pdf

View BVdb publication page

---

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: rs2256871

PubMed Link: 33277594

Variant Present in the following documents:

• 41598_2020_78231_MOESM1_ESM.pdf

View BVdb publication page

---

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: CYP2C9: H251R; rs2256871

PubMed Link: 32607875

Variant Present in the following documents:

• 40262_2020_913_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

CYP2C9 and CYP2C19: Deep Mutational Scanning and Functional Characterization of Genomic Missense Variants.

Clinical And Translational Science

Zhang, Lingxin L; Sarangi, Vivekananda V; Moon, Irene I; Yu, Jia J; Liu, Duan D; Devarajan, Sandhya S; Reid, Joel M JM; Kalari, Krishna R KR; Wang, Liewei L; Weinshilboum, Richard R

Publication Date: 2020-07

Variant appearance in text: CYP2C9: 752A>G; His251Arg; rs2256871

PubMed Link: 32004414

Variant Present in the following documents:

• Main text
• CTS-13-727.pdf

View BVdb publication page

---

Genetic Factors Influencing Warfarin Dose in Black-African Patients: A Systematic Review and Meta-Analysis.

Clinical Pharmacology And Therapeutics

Asiimwe, Innocent G IG; Zhang, Eunice J EJ; Osanlou, Rostam R; Krause, Amanda A; Dillon, Chrisly C; Suarez-Kurtz, Guilherme G; Zhang, Honghong H; Perini, Jamila A JA; Renta, Jessicca Y JY; Duconge, Jorge J; Cavallari, Larisa H LH; Marcatto, Leiliane R LR; Beasly, Mark T MT; Perera, Minoli A MA; Limdi, Nita A NA; Santos, Paulo C J L PCJL; Kimmel, Stephen E SE; Lubitz, Steven A SA; Scott, Stuart A SA; Kawai, Vivian K VK; Jorgensen, Andrea L AL; Pirmohamed, Munir M

Publication Date: 2020-06

Variant appearance in text: rs2256871

PubMed Link: 31869433

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Pharmacogenomics Clinical Annotation Tool (PharmCAT).

Clinical Pharmacology And Therapeutics

Sangkuhl, Katrin K; Whirl-Carrillo, Michelle M; Whaley, Ryan M RM; Woon, Mark M; Lavertu, Adam A; Altman, Russ B RB; Carter, Lester L; Verma, Anurag A; Ritchie, Marylyn D MD; Klein, Teri E TE

Publication Date: 2020-01

Variant appearance in text: rs2256871

PubMed Link: 31306493

Variant Present in the following documents:

• CPT-107-203-s004.pdf

View BVdb publication page

---

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: CYP2C9: H251R

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 63

View BVdb publication page

---

An optimized prediction framework to assess the functional impact of pharmacogenetic variants.

The Pharmacogenomics Journal

Zhou, Yitian Y; Mkrtchian, Souren S; Kumondai, Masaki M; Hiratsuka, Masahiro M; Lauschke, Volker M VM

Publication Date: 2019-04

Variant appearance in text: CYP2C9: H251R; rs2256871

PubMed Link: 30206299

Variant Present in the following documents:

• 41397_2018_44_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

---

Pharmacogenomics of CYP2C9: Functional and Clinical Considerations.

Journal Of Personalized Medicine

Daly, Ann K AK; Rettie, Allan E AE; Fowler, Douglas M DM; Miners, John O JO

Publication Date: 2017-12-28

Variant appearance in text: CYP2C9: 752A>G; His251Arg; rs2256871

PubMed Link: 29283396

Variant Present in the following documents:

• Main text
• jpm-08-00001.pdf

View BVdb publication page

---

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: rs2256871

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

---

Suboptimal cotrimoxazole prophylactic concentrations in HIV-infected children according to the WHO guidelines.

British Journal Of Clinical Pharmacology

Pressiat, Claire C; Mea-Assande, Veronique V; Yonaba, Caroline C; Treluyer, Jean-Marc JM; Dahourou, Désiré-Lucien DL; Amorissani-Folquet, Madeleine M; Blanche, Stéphane S; Eboua, François F; Ye, Diarra D; Lui, Gabrielle G; Malateste, Karen K; Zheng, Yi Y; Leroy, Valeriane V; Hirt, Déborah D; ,

Publication Date: 2017-12

Variant appearance in text: rs2256871

PubMed Link: 28800382

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Exploring public genomics data for population pharmacogenomics.

Plos One

Lakiotaki, Kleanthi K; Kanterakis, Alexandros A; Kartsaki, Evgenia E; Katsila, Theodora T; Patrinos, George P GP; Potamias, George G

Publication Date: 2017

Variant appearance in text: rs2256871

PubMed Link: 28771511

Variant Present in the following documents:

• Main text

View BVdb publication page

---

In vitro metabolism of exemestane by hepatic cytochrome P450s: impact of nonsynonymous polymorphisms on formation of the active metabolite 17β-dihydroexemestane.

Pharmacology Research & Perspectives

Peterson, Amity A; Xia, Zuping Z; Chen, Gang G; Lazarus, Philip P

Publication Date: 2017-06

Variant appearance in text: CYP2C9: His251Arg; rs2256871

PubMed Link: 28603633

Variant Present in the following documents:

• Main text
• PRP2-5-e00314.pdf

View BVdb publication page

---

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: CYP2C9: H251R; rs2256871

PubMed Link: 28378927

Variant Present in the following documents:

• Main text
• CPT-102-688.pdf

View BVdb publication page

---

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: CYP2C9: H251R; rs2256871

PubMed Link: 27984508

Variant Present in the following documents:

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

View BVdb publication page

---

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: rs2256871

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

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: CYP2C9: H251R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

---

Pharmacogenomic knowledge representation, reasoning and genome-based clinical decision support based on OWL 2 DL ontologies.

Bmc Medical Informatics And Decision Making

Samwald, Matthias M; Miñarro Giménez, Jose Antonio JA; Boyce, Richard D RD; Freimuth, Robert R RR; Adlassnig, Klaus-Peter KP; Dumontier, Michel M

Publication Date: 2015-02-22

Variant appearance in text: rs2256871

PubMed Link: 25880555

Variant Present in the following documents:

• Main text
• 12911_2015_Article_130.pdf

View BVdb publication page

---

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: rs2256871

PubMed Link: 25802476

Variant Present in the following documents:

• 542543.f1.xlsx, sheet 1

View BVdb publication page

---

Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: CYP2C9: H251R; rs2256871

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

---

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: rs2256871

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

---

An ontology-based, mobile-optimized system for pharmacogenomic decision support at the point-of-care.

Plos One

Miñarro-Giménez, Jose Antonio JA; Blagec, Kathrin K; Boyce, Richard D RD; Adlassnig, Klaus-Peter KP; Samwald, Matthias M

Publication Date: 2014

Variant appearance in text: rs2256871

PubMed Link: 24787444

Variant Present in the following documents:

• Main text
• pone.0093769.pdf

View BVdb publication page

---

Inactive alleles of cytochrome P450 2C19 may be positively selected in human evolution.

Bmc Evolutionary Biology

Janha, Ramatoulie E RE; Worwui, Archibald A; Linton, Kenneth J KJ; Shaheen, Seif O SO; Sisay-Joof, Fatoumatta F; Walton, Robert T RT

Publication Date: 2014-04-01

Variant appearance in text: rs2256871

PubMed Link: 24690327

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Warfarin Dosing in a Patient with CYP2C9(∗)3(∗)3 and VKORC1-1639 AA Genotypes.

Case Reports In Genetics

Johnson, Mark M; Richard, Craig C; Bogdan, Renee R; Kidd, Robert R

Publication Date: 2014

Variant appearance in text: rs2256871

PubMed Link: 24627811

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Distribution of genetic polymorphisms of genes encoding drug metabolizing enzymes & drug transporters - a review with Indian perspective.

The Indian Journal Of Medical Research

Umamaheswaran, Gurusamy G; Kumar, Dhakchinamoorthi Krishna DK; Adithan, Chandrasekaran C

Publication Date: 2014-01

Variant appearance in text: CYP2C9: H251R

PubMed Link: 24604039

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: CYP2C9: H251R; rs2256871

PubMed Link: 24340040

Variant Present in the following documents:

• Main text
• pone.0082562.s002.xlsx, sheet 1
• pone.0082562.pdf

View BVdb publication page

---

Pharmacogenomics of warfarin in populations of African descent.

British Journal Of Clinical Pharmacology

Suarez-Kurtz, Guilherme G; Botton, Mariana R MR

Publication Date: 2013-02

Variant appearance in text: CYP2C9: H251R; rs2256871

PubMed Link: 22676711

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genetic factors associated with patient-specific warfarin dose in ethnic Indonesians.

Bmc Medical Genetics

Suriapranata, Ivet M IM; Tjong, Wen Ye WY; Wang, Tingliang T; Utama, Andi A; Raharjo, Sunu B SB; Yuniadi, Yoga Y; Tai, Susan Sw SS

Publication Date: 2011-06-06

Variant appearance in text: rs2256871

PubMed Link: 21639946

Variant Present in the following documents:

• Main text
• 1471-2350-12-80.pdf

View BVdb publication page

---

Characterization of 107 genomic DNA reference materials for CYP2D6, CYP2C19, CYP2C9, VKORC1, and UGT1A1: a GeT-RM and Association for Molecular Pathology collaborative project.

The Journal Of Molecular Diagnostics : Jmd

Pratt, Victoria M VM; Zehnbauer, Barbara B; Wilson, Jean Amos JA; Baak, Ruth R; Babic, Nikolina N; Bettinotti, Maria M; Buller, Arlene A; Butz, Ken K; Campbell, Matthew M; Civalier, Chris C; El-Badry, Abdalla A; Farkas, Daniel H DH; Lyon, Elaine E; Mandal, Saptarshi S; McKinney, Jason J; Muralidharan, Kasinathan K; Noll, LeAnne L; Sander, Tara T; Shabbeer, Junaid J; Smith, Chingying C; Telatar, Milhan M; Toji, Lorraine L; Vairavan, Anand A; Vance, Carlos C; Weck, Karen E KE; Wu, Alan H B AH; Yeo, Kiang-Teck J KT; Zeller, Markus M; Kalman, Lisa L

Publication Date: 2010-11

Variant appearance in text: CYP2C9: 752A>G; rs2256871

PubMed Link: 20889555

Variant Present in the following documents:

• Main text

View BVdb publication page

---

New genetic variant that might improve warfarin dose prediction in African Americans.

British Journal Of Clinical Pharmacology

Schelleman, Hedi H; Brensinger, Colleen M CM; Chen, Jinbo J; Finkelman, Brian S BS; Rieder, Mark J MJ; Kimmel, Stephen E SE

Publication Date: 2010-09

Variant appearance in text: rs2256871

PubMed Link: 20716240

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Novel variants of major drug-metabolising enzyme genes in diverse African populations and their predicted functional effects.

Human Genomics

Matimba, Alice A; Del-Favero, Jurgen J; Van Broeckhoven, Christine C; Masimirembwa, Collen C

Publication Date: 2009-01

Variant appearance in text: CYP2C9: H251R; rs2256871

PubMed Link: 19164093

Variant Present in the following documents:

• Main text
• 1479-7364-3-2-169.pdf

View BVdb publication page

---