Publications:

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Genetic markers of the risk of coronary heart disease and coronary artery thrombosis developing in the Kazakh population.

Caspian Journal Of Internal Medicine

Taizhanova, Dana D; Toleuova, Aliya A; Babenko, Dmitry D; Turmuhambetova, Anar A; Bodaubay, Roza R; Visternichan, Olga O; Kalimbetova, Akerke A; Ahmaltdinova, Ludmila L; Kurmanova, Aigul A

Publication Date: 2023

Variant appearance in text: rs41291556

PubMed Link: 37223289

Variant Present in the following documents:

• Main text
• cjim-14-249.pdf

View BVdb publication page

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Pharmacogenomic profile of a central European urban random population-Czech population.

Plos One

Proietti, Riccardo R; Maranho Neto, Geraldo A GA; Kunzova, Sarka S; Lo Re, Oriana O; Ahola-Olli, Ari A; Heliste, Juho J; Gonzalez-Rivas, Juan Pablo JP; Vinciguerra, Manlio M

Publication Date: 2023

Variant appearance in text: rs41291556

PubMed Link: 37079615

Variant Present in the following documents:

• Main text
• pone.0284386.pdf

View BVdb publication page

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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: CYP2C19: 358T>C; Trp120Arg

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: rs41291556

PubMed Link: 36677060

Variant Present in the following documents:

• Main text
• metabolites-13-00134.pdf

View BVdb publication page

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Pharmacogenomics in Psychiatry Practice: The Value and the Challenges.

International Journal Of Molecular Sciences

Alchakee, Aminah A; Ahmed, Munazza M; Eldohaji, Leen L; Alhaj, Hamid H; Saber-Ayad, Maha M

Publication Date: 2022-11-03

Variant appearance in text: rs41291556

PubMed Link: 36362270

Variant Present in the following documents:

• Main text
• ijms-23-13485.pdf

View BVdb publication page

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Pharmacogenomics implementation in cardiovascular disease in a highly diverse population: initial findings and lessons learned from a pilot study in United Arab Emirates.

Human Genomics

Al-Mahayri, Zeina N ZN; Khasawneh, Lubna Q LQ; Alqasrawi, Mais N MN; Altoum, Sahar M SM; Jamil, Gohar G; Badawi, Sally S; Hamza, Dana D; George, Lizy L; AlZaabi, Anwar A; Ouda, Husam H; Al-Maskari, Fatma F; AlKaabi, Juma J; Patrinos, George P GP; Ali, Bassam R BR

Publication Date: 2022-09-25

Variant appearance in text: rs41291556

PubMed Link: 36154845

Variant Present in the following documents:

• Main text
• 40246_2022_Article_417.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: CYP2C19: W120R; rs41291556

PubMed Link: 36068297

Variant Present in the following documents:

• Main text
• 41397_2022_Article_288.pdf

View BVdb publication page

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Common and rare variants in patients with early onset drusen maculopathy.

Clinical Genetics

de Breuk, Anita A; Lechanteur, Yara T E YTE; Astuti, Galuh G; Galbany, Jordi Corominas JC; Klaver, Caroline C W CCW; Hoyng, Carel B CB; den Hollander, Anneke I AI

Publication Date: 2022-11

Variant appearance in text: CYP2C19: 358T>C; Trp120Arg

PubMed Link: 36053979

Variant Present in the following documents:

• CGE-102-414-s009.xlsx, sheet 1

View BVdb publication page

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Evaluation of the EMPAR study population on the basis of metabolic phenotypes of selected pharmacogenes.

The Pharmacogenomics Journal

Fracowiak, Jochen J; Huebner, Tatjana T; Heß, Steffen S; Roethlein, Christoph C; Langner, Daria D; Schneider, Udo U; Falkenberg, Felix F; Scholl, Catharina C; Linder, Roland R; Stingl, Julia J; Haenisch, Britta B; Steffens, Michael M

Publication Date: 2022-03

Variant appearance in text: rs41291556

PubMed Link: 35102241

Variant Present in the following documents:

• 41397_2022_Article_268.pdf

View BVdb publication page

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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: CYP2C19: W120R; rs41291556

PubMed Link: 35089958

Variant Present in the following documents:

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

View BVdb publication page

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Analysis of CYP2C19 genetic variants with ischaemic events in UK patients prescribed clopidogrel in primary care: a retrospective cohort study.

Bmj Open

Pilling, Luke C LC; Türkmen, Deniz D; Fullalove, Hannah H; Atkins, Janice L JL; Delgado, Joao J; Kuo, Chia-Ling CL; Kuchel, George A GA; Ferrucci, Luigi L; Bowden, Jack J; Masoli, Jane A H JAH; Melzer, David D

Publication Date: 2021-12-13

Variant appearance in text: rs41291556

PubMed Link: 34903548

Variant Present in the following documents:

• bmjopen-2021-053905.draft_revisions.pdf

View BVdb publication page

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Analysis of CYP2C19 genetic variants with ischaemic events in UK patients prescribed clopidogrel in primary care: a retrospective cohort study.

Bmj Open

Pilling, Luke C LC; Türkmen, Deniz D; Fullalove, Hannah H; Atkins, Janice L JL; Delgado, Joao J; Kuo, Chia-Ling CL; Kuchel, George A GA; Ferrucci, Luigi L; Bowden, Jack J; Masoli, Jane A H JAH; Melzer, David D

Publication Date: 2021-12-13

Variant appearance in text: rs41291556

PubMed Link: 34903548

Variant Present in the following documents:

• bmjopen-2021-053905.draft_revisions.pdf

View BVdb publication page

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Experience of a Strategy Including CYP2C19 Preemptive Genotyping Followed by Therapeutic Drug Monitoring of Voriconazole in Patients Undergoing Allogenic Hematopoietic Stem Cell Transplantation.

Frontiers In Pharmacology

García-García, Irene I; Dapía, Irene I; Montserrat, Jaime J; Martinez de Soto, Lucía L; Bueno, David D; Díaz, Lucía L; Queiruga, Javier J; Rodriguez Mariblanca, Amelia A; Guerra-García, Pilar P; Ramirez, Elena E; Frías, Jesus J; Pérez Martínez, Antonio A; Carcas-Sansuan, Antonio J AJ; Borobia, Alberto M AM

Publication Date: 2021

Variant appearance in text: CYP2C19: 358T>C; rs41291556

PubMed Link: 34744712

Variant Present in the following documents:

• Main text

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: rs41291556

PubMed Link: 34721006

Variant Present in the following documents:

• Main text
• fphar-12-634016.pdf

View BVdb publication page

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Effects of Cytochrome P450 and Transporter Polymorphisms on the Bioavailability and Safety of Dutasteride and Tamsulosin.

Frontiers In Pharmacology

Villapalos-García, Gonzalo G; Zubiaur, Pablo P; Navares-Gómez, Marcos M; Saiz-Rodríguez, Miriam M; Mejía-Abril, Gina G; Martín-Vílchez, Samuel S; Román, Manuel M; Ochoa, Dolores D; Abad-Santos, Francisco F

Publication Date: 2021

Variant appearance in text: rs41291556

PubMed Link: 34690761

Variant Present in the following documents:

• Main text
• fphar-12-718281.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: rs41291556

PubMed Link: 34683865

Variant Present in the following documents:

• Main text

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: CYP2C19: W120R; rs41291556

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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Precision Medicine into Clinical Practice: A Web-Based Tool Enables Real-Time Pharmacogenetic Assessment of Tailored Treatments in Psychiatric Disorders.

Journal Of Personalized Medicine

Zampatti, Stefania S; Fabrizio, Carlo C; Ragazzo, Michele M; Campoli, Giulia G; Caputo, Valerio V; Strafella, Claudia C; Pellicano, Clelia C; Cascella, Raffaella R; Spalletta, Gianfranco G; Petrosini, Laura L; Caltagirone, Carlo C; Termine, Andrea A; Giardina, Emiliano E

Publication Date: 2021-08-27

Variant appearance in text: CYP2C19: 358T>C; Trp120Arg; rs41291556

PubMed Link: 34575628

Variant Present in the following documents:

• Main text
• jpm-11-00851.pdf

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: rs41291556

PubMed Link: 34501219

Variant Present in the following documents:

• Main text
• jcm-10-03772.pdf

View BVdb publication page

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Pharmacogenomic polygenic risk score for clopidogrel responsiveness among Caribbean Hispanics: A candidate gene approach.

Clinical And Translational Science

Duconge, Jorge J; Santiago, Ednalise E; Hernandez-Suarez, Dagmar F DF; Moneró, Mariangeli M; López-Reyes, Andrés A; Rosario, Marines M; Renta, Jessicca Y JY; González, Pablo P; Ileana Fernández-Morales, Laura L; Antonio Vélez-Figueroa, Luis L; Arce, Orlando O; Marín-Maldonado, Frances F; Nuñez, Héctor H; Melin, Kyle K; Scott, Stuart A SA; Ruaño, Gualberto G

Publication Date: 2021-11

Variant appearance in text: rs41291556

PubMed Link: 34415683

Variant Present in the following documents:

• Main text
• CTS-14-2254.pdf

View BVdb publication page

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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: rs41291556

PubMed Link: 34413872

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs41291556

PubMed Link: 34064668

Variant Present in the following documents:

• Main text

View BVdb publication page

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Assessment of the Implementation of Pharmacogenomic Testing in a Pediatric Tertiary Care Setting.

Jama Network Open

Cohn, Iris I; Manshaei, Roozbeh R; Liston, Eriskay E; Okello, John B A JBA; Khan, Reem R; Curtis, Meredith R MR; Krupski, Abby J AJ; Jobling, Rebekah K RK; Kalbfleisch, Kelsey K; Paton, Tara A TA; Reuter, Miriam S MS; Hayeems, Robin Z RZ; Verstegen, Ruud H J RHJ; Goldman, Aaron A; Kim, Raymond H RH; Ito, Shinya S

Publication Date: 2021-05-03

Variant appearance in text: rs41291556

PubMed Link: 34037732

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Susceptibility to Drug Teratogenicity: A Systematic Literature Review.

Frontiers In Genetics

Gomes, Julia do Amaral JDA; Olstad, Emilie Willoch EW; Kowalski, Thayne Woycinck TW; Gervin, Kristina K; Vianna, Fernanda Sales Luiz FSL; Schüler-Faccini, Lavínia L; Nordeng, Hedvig Marie Egeland HME

Publication Date: 2021

Variant appearance in text: rs41291556

PubMed Link: 33981330

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: rs41291556

PubMed Link: 33802585

Variant Present in the following documents:

• Main text
• genes-12-00361.pdf

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: CYP2C19: 358T>C; rs41291556

PubMed Link: 33600428

Variant Present in the following documents:

• pgen.1009323.s003.xlsx, sheet 1

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: rs41291556

PubMed Link: 33569925

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Diversity of Drug-Related Genes in Native Americans of the Brazilian Amazon.

Pharmacogenomics And Personalized Medicine

Fernandes, Marianne Rodrigues MR; Rodrigues, Juliana Carla Gomes JCG; Maroñas, Olalla O; Latorre-Pellicer, Ana A; Cruz, Raquel R; Guerreiro, João Farias JF; Burbano, Rommel Mario Rodriguez RMR; de Assumpção, Paulo Pimentel PP; Ribeiro-Dos-Santos, Andrea A; Dos Santos, Sidney Emanuel Batista SEB; Carracedo, Angel A; Dos Santos, Ney Pereira Carneiro NPC

Publication Date: 2021

Variant appearance in text: rs41291556

PubMed Link: 33519226

Variant Present in the following documents:

• Main text
• pgpm-14-117.pdf

View BVdb publication page

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How Can Drug Metabolism and Transporter Genetics Inform Psychotropic Prescribing?

Frontiers In Genetics

Carvalho Henriques, Beatriz B; Yang, Esther H EH; Lapetina, Diego D; Carr, Michael S MS; Yavorskyy, Vasyl V; Hague, Joshua J; Aitchison, Katherine J KJ

Publication Date: 2020

Variant appearance in text: CYP2C19: Trp120Arg

PubMed Link: 33363564

Variant Present in the following documents:

• Main text
• fgene-11-491895.pdf

View BVdb publication page

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Impact of Drug-Gene-Interaction, Drug-Drug-Interaction, and Drug-Drug-Gene-Interaction on (es)Citalopram Therapy: The PharmLines Initiative.

Journal Of Personalized Medicine

Bahar, Muh Akbar MA; Lanting, Pauline P; Bos, Jens H J JHJ; Sijmons, Rolf H RH; Hak, Eelko E; Wilffert, Bob B

Publication Date: 2020-11-28

Variant appearance in text: rs41291556

PubMed Link: 33260705

Variant Present in the following documents:

• Main text

View BVdb publication page

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Implementation and management outcomes of pharmacogenetic CYP2C19 testing for clopidogrel therapy in clinical practice.

European Journal Of Clinical Pharmacology

Russmann, Stefan S; Rahmany, Ali A; Niedrig, David D; Hatz, Karl-Dietrich KD; Ludin, Katja K; Burden, Andrea M AM; Englberger, Lars L; Backhaus, Roland R; Serra, Andreas A; Béchir, Markus M

Publication Date: 2021-05

Variant appearance in text: rs41291556

PubMed Link: 33242107

Variant Present in the following documents:

• Main text
• 228_2020_Article_3050.pdf

View BVdb publication page

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Pharmacogenetics to Predict Adverse Events Associated With Antidepressants.

Pediatrics

Rossow, Katelyn M KM; Aka, Ida T IT; Maxwell-Horn, Angela C AC; Roden, Dan M DM; Van Driest, Sara L SL

Publication Date: 2020-12

Variant appearance in text: rs41291556

PubMed Link: 33234666

Variant Present in the following documents:

• Main text

View BVdb publication page

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Development and Analytical Validation of a 29 Gene Clinical Pharmacogenetic Genotyping Panel: Multi-Ethnic Allele and Copy Number Variant Detection.

Clinical And Translational Science

Scott, Stuart A SA; Scott, Erick R ER; Seki, Yoshinori Y; Chen, Annette J AJ; Wallsten, Richard R; Owusu Obeng, Aniwaa A; Botton, Mariana R MR; Cody, Neal N; Shi, Huanzhi H; Zhao, Geping G; Brake, Paul P; Nicoletti, Paola P; Yang, Yao Y; Delio, Maria M; Shi, Lisong L; Kornreich, Ruth R; Schadt, Eric E EE; Edelmann, Lisa L

Publication Date: 2021-01

Variant appearance in text: CYP2C19: 358T>C; Trp120Arg; rs41291556

PubMed Link: 32931151

Variant Present in the following documents:

• CTS-14-204-s001.xlsx, sheet 1

View BVdb publication page

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Integration of Germline Pharmacogenetics Into a Tumor Sequencing Program.

Jco Precision Oncology

Hertz, Daniel L DL; Glatz, Andrew A; Pasternak, Amy L AL; Lonigro, Robert J RJ; Vats, Pankaj P; Wu, Yi-Mi YM; Anderson, Bailey B; Rabban, Erica E; Mora, Erika E; Frank, Kevin K; Robinson, Dan R DR; Mody, Rajen J RJ; Chinnaiyan, Arul A

Publication Date: 2018

Variant appearance in text: rs41291556

PubMed Link: 32832831

Variant Present in the following documents:

• Main text

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: CYP2C19: W120R; rs41291556

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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How to Transition from Single-Gene Pharmacogenetic Testing to Preemptive Panel-Based Testing: A Tutorial.

Clinical Pharmacology And Therapeutics

Marrero, Richard J RJ; Cicali, Emily J EJ; Arwood, Meghan J MJ; Eddy, Elizabeth E; DeRemer, David D; Ramnaraign, Brian H BH; Daily, Karen C KC; Jones, Dennie D; Cook, Kelsey J KJ; Cavallari, Larisa H LH; Wiisanen Weitzel, Kristin K; Langaee, Taimour T; Newsom, Kimberly J KJ; Starostik, Petr P; Clare-Salzer, Michael J MJ; Johnson, Julie A JA; George, Thomas J TJ; Cooper-DeHoff, Rhonda M RM

Publication Date: 2020-09

Variant appearance in text: rs41291556

PubMed Link: 32460360

Variant Present in the following documents:

• Main text

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: CYP2C19: 358T>C; rs41291556

PubMed Link: 32355288

Variant Present in the following documents:

• Main text

View BVdb publication page

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Implementation of a Renal Precision Medicine Program: Clinician Attitudes and Acceptance.

Life (Basel, Switzerland)

Spiech, Katherine M KM; Tripathy, Purnima R PR; Woodcock, Alex M AM; Sheth, Nehal A NA; Collins, Kimberly S KS; Kannegolla, Karthik K; Sinha, Arjun D AD; Sharfuddin, Asif A AA; Pratt, Victoria M VM; Khalid, Myda M; Hains, David S DS; Moe, Sharon M SM; Skaar, Todd C TC; Moorthi, Ranjani N RN; Eadon, Michael T MT

Publication Date: 2020-03-26

Variant appearance in text: rs41291556

PubMed Link: 32224869

Variant Present in the following documents:

• Main text
• life-10-00032.pdf

View BVdb publication page

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A review of clinical pharmacogenetics Studies in African populations.

Personalized Medicine

Radouani, Fouzia F; Zass, Lyndon L; Hamdi, Yosr Y; Rocha, Jorge da JD; Sallam, Reem R; Abdelhak, Sonia S; Ahmed, Samah S; Azzouzi, Maryame M; Benamri, Ichrak I; Benkahla, Alia A; Bouhaouala-Zahar, Balkiss B; Chaouch, Melek M; Jmel, Haifa H; Kefi, Rym R; Ksouri, Ayoub A; Kumuthini, Judit J; Masilela, Phumlani P; Masimirembwa, Collen C; Othman, Houcemeddine H; Panji, Sumir S; Romdhane, Lilia L; Samtal, Chaimae C; Sibira, Rania R; Ghedira, Kais K; Fadlelmola, Faisal F; Kassim, Samar Kamal SK; Mulder, Nicola N

Publication Date: 2020-03

Variant appearance in text: rs41291556

PubMed Link: 32125935

Variant Present in the following documents:

• NIHMS1694746-supplement-Supplementary_file.xlsx, sheet 1

View BVdb publication page

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Pharmacogene Variation in Thai Plasmodium vivax Relapse Patients Treated with a Combination of Primaquine and Chloroquine.

Pharmacogenomics And Personalized Medicine

Chamnanphon, Monpat M; Gaedigk, Andrea A; Puangpetch, Apichaya A; Pasomsub, Ekawat E; Chantratita, Wasun W; Longley, Rhea J RJ; Sattabongkot, Jetsumon J; Chariyavilaskul, Pajaree P; Sukasem, Chonlaphat C

Publication Date: 2020

Variant appearance in text: CYP2C19: 358T>C; rs41291556

PubMed Link: 32021383

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: CYP2C19: 358T>C; W120R; rs41291556

PubMed Link: 32004414

Variant Present in the following documents:

• Main text
• CTS-13-727.pdf

View BVdb publication page

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NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.

Molecular Oncology

Bertucci, François F; Rypens, Charlotte C; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Monneur, Audrey A; Carbuccia, Nadine N; Garnier, Séverine S; Dirix, Piet P; Gonçalves, Anthony A; Vermeulen, Peter P; Debeb, Bisrat G BG; Wang, Xiaoping X; Dirix, Luc L; Ueno, Naoto T NT; Viens, Patrice P; Cristofanilli, Massimo M; Chaffanet, Max M; Birnbaum, Daniel D; Van Laere, Steven S

Publication Date: 2020-03

Variant appearance in text: CYP2C19: W120R

PubMed Link: 31854063

Variant Present in the following documents:

• MOL2-14-504-s010.xlsx, sheet 1

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Clinical Utility of Pharmacogene Panel-Based Testing in Patients Undergoing Percutaneous Coronary Intervention.

Clinical And Translational Science

El Rouby, Nihal N; Alrwisan, Adel A; Langaee, Taimour T; Lipori, Gloria G; Angiolillo, Dominick J DJ; Franchi, Francesco F; Riva, Alberto A; Elsey, Amanda A; Johnson, Julie A JA; Cavallari, Larisa H LH; Winterstein, Almut G AG

Publication Date: 2020-05

Variant appearance in text: CYP2C19: 358T>C; rs41291556

PubMed Link: 31758664

Variant Present in the following documents:

• Main text
• CTS-13-473.pdf

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A functional polymorphism in the ATP-Binding Cassette B1 transporter predicts pharmacologic response to combination of nortriptyline and morphine in neuropathic pain patients.

Pain

Benavides, Rodrigo R; Vsevolozhskaya, Olga O; Cattaneo, Stefano S; Zaykin, Dmitri D; Brenton, Ashley A; Parisien, Marc M; Verma, Vivek V; Khoury, Samar S; Gilron, Ian I; Diatchenko, Luda L

Publication Date: 2020-03

Variant appearance in text: rs41291556

PubMed Link: 31738228

Variant Present in the following documents:

• Main text

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CYP2C19 Phenotype and Risk of Proton Pump Inhibitor-Associated Infections.

Pediatrics

Bernal, Christiana J CJ; Aka, Ida I; Carroll, Robert J RJ; Coco, Joseph R JR; Lima, John J JJ; Acra, Sari A SA; Roden, Dan M DM; Van Driest, Sara L SL

Publication Date: 2019-12

Variant appearance in text: rs41291556

PubMed Link: 31699831

Variant Present in the following documents:

• Main text

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Pharmacogenomic polygenic response score predicts ischaemic events and cardiovascular mortality in clopidogrel-treated patients.

European Heart Journal. Cardiovascular Pharmacotherapy

Lewis, Joshua P JP; Backman, Joshua D JD; Reny, Jean-Luc JL; Bergmeijer, Thomas O TO; Mitchell, Braxton D BD; Ritchie, Marylyn D MD; Déry, Jean-Pierre JP; Pakyz, Ruth E RE; Gong, Li L; Ryan, Kathleen K; Kim, Eun-Young EY; Aradi, Daniel D; Fernandez-Cadenas, Israel I; Lee, Ming Ta Michael MTM; Whaley, Ryan M RM; Montaner, Joan J; Gensini, Gian Franco GF; Cleator, John H JH; Chang, Kiyuk K; Holmvang, Lene L; Hochholzer, Willibald W; Roden, Dan M DM; Winter, Stefan S; Altman, Russ B RB; Alexopoulos, Dimitrios D; Kim, Ho-Sook HS; Gawaz, Meinrad M; Bliden, Kevin P KP; Valgimigli, Marco M; Marcucci, Rossella R; Campo, Gianluca G; Schaeffeler, Elke E; Dridi, Nadia P NP; Wen, Ming-Shien MS; Shin, Jae Gook JG; Fontana, Pierre P; Giusti, Betti B; Geisler, Tobias T; Kubo, Michiaki M; Trenk, Dietmar D; Siller-Matula, Jolanta M JM; Ten Berg, Jurriën M JM; Gurbel, Paul A PA; Schwab, Matthias M; Klein, Teri E TE; Shuldiner, Alan R AR; ,

Publication Date: 2020-07-01

Variant appearance in text: rs41291556

PubMed Link: 31504375

Variant Present in the following documents:

• Main text

View BVdb publication page

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CYP2C19 and STAT6 Variants Influence the Outcome of Proton Pump Inhibitor Therapy in Pediatric Eosinophilic Esophagitis.

Journal Of Pediatric Gastroenterology And Nutrition

Mougey, Edward B EB; Williams, Andre A; Coyne, Ashlan J Kunz AJK; Gutiérrez-Junquera, Carolina C; Fernández-Fernández, Sonia S; Cilleruelo, Maria Luz ML; Rayo, Ana A; Echeverría, Luis L; Román, Enriqueta E; González Lois, Carmen C; Chao, Montserrat M; Al-Atrash, Hadeel H; Lima, John J JJ; Franciosi, James P JP

Publication Date: 2019-11

Variant appearance in text: rs41291556

PubMed Link: 31490856

Variant Present in the following documents:

• Main text
• jpga-69-0581.pdf

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Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.

American Journal Of Human Genetics

, ; ,

Publication Date: 2019-09-05

Variant appearance in text: rs41291556

PubMed Link: 31447099

Variant Present in the following documents:

• Main text

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Analyzing and Reanalyzing the Genome: Findings from the MedSeq Project.

American Journal Of Human Genetics

Machini, Kalotina K; Ceyhan-Birsoy, Ozge O; Azzariti, Danielle R DR; Sharma, Himanshu H; Rossetti, Peter P; Mahanta, Lisa L; Hutchinson, Laura L; McLaughlin, Heather H; , ; Green, Robert C RC; Lebo, Matthew M; Rehm, Heidi L HL

Publication Date: 2019-07-03

Variant appearance in text: rs41291556

PubMed Link: 31256874

Variant Present in the following documents:

• Main text

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Development of the PGx-Passport: A Panel of Actionable Germline Genetic Variants for Pre-Emptive Pharmacogenetic Testing.

Clinical Pharmacology And Therapeutics

van der Wouden, Cathelijne H CH; van Rhenen, Mandy H MH; Jama, Wafa O M WOM; Ingelman-Sundberg, Magnus M; Lauschke, Volker M VM; Konta, Lidija L; Schwab, Matthias M; Swen, Jesse J JJ; Guchelaar, Henk-Jan HJ

Publication Date: 2019-10

Variant appearance in text: CYP2C19: W120R; rs41291556

PubMed Link: 31038729

Variant Present in the following documents:

• CPT-106-866-s001.pdf

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Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests.

European Journal Of Human Genetics : Ejhg

Thauvin-Robinet, Christel C; Thevenon, Julien J; Nambot, Sophie S; Delanne, Julian J; Kuentz, Paul P; Bruel, Ange-Line AL; Chassagne, Aline A; Cretin, Elodie E; Pelissier, Aurore A; Peyron, Chritine C; Gautier, Elodie E; Lehalle, Daphné D; Jean-Marçais, Nolwenn N; Callier, Patrick P; Mosca-Boidron, Anne-Laure AL; Vitobello, Antonio A; Sorlin, Arthur A; Tran Mau-Them, Frédéric F; Philippe, Christophe C; Vabres, Pierre P; Demougeot, Laurent L; Poé, Charlotte C; Jouan, Thibaud T; Chevarin, Martin M; Lefebvre, Mathilde M; Bardou, Marc M; Tisserant, Emilie E; Luu, Maxime M; Binquet, Christine C; Deleuze, Jean-François JF; Verstuyft, Céline C; Duffourd, Yannis Y; Faivre, Laurence L

Publication Date: 2019-08

Variant appearance in text: rs41291556

PubMed Link: 31019283

Variant Present in the following documents:

• Main text

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