Publications:

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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: rs72558189

PubMed Link: 36068297

Variant Present in the following documents:

• 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: CYP2C9: R125L

PubMed Link: 35181665

Variant Present in the following documents:

• 41525_2022_283_MOESM2_ESM.xlsx, sheet 1

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: rs72558189

PubMed Link: 34721006

Variant Present in the following documents:

• datasheet1.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: rs72558189

PubMed Link: 34413872

Variant Present in the following documents:

• Main text
• fgene-12-644694.pdf

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: rs72558189

PubMed Link: 34064668

Variant Present in the following documents:

• Main text
• jpm-11-00394.pdf

View BVdb publication page

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In Vivo Functional Effects of CYP2C9 M1L, a Novel and Common Variant in the Yup'ik Alaska Native Population.

Drug Metabolism And Disposition: The Biological Fate Of Chemicals

Henderson, Lindsay M LM; Hopkins, Scarlett E SE; Boyer, Bert B BB; Thornton, Timothy A TA; Rettie, Allan E AE; Thummel, Kenneth E KE

Publication Date: 2021-05

Variant appearance in text: rs72558189

PubMed Link: 33632714

Variant Present in the following documents:

• Main text
• dmd.120.000301.pdf

View BVdb publication page

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Functional Assessment of 12 Rare Allelic CYP2C9 Variants Identified in a Population of 4773 Japanese Individuals.

Journal Of Personalized Medicine

Kumondai, Masaki M; Ito, Akio A; Gutiérrez Rico, Evelyn Marie EM; Hishinuma, Eiji E; Ueda, Akiko A; Saito, Sakae S; Nakayoshi, Tomoki T; Oda, Akifumi A; Tadaka, Shu S; Kinoshita, Kengo K; Maekawa, Masamitsu M; Mano, Nariyasu N; Hirasawa, Noriyasu N; Hiratsuka, Masahiro M

Publication Date: 2021-02-02

Variant appearance in text: CYP2C9: Arg125Leu

PubMed Link: 33540768

Variant Present in the following documents:

• Main text
• jpm-11-00094.pdf

View BVdb publication page

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Functional Characterization of Pharmcogenetic Variants of Human Cytochrome P450 2C9 in Korean Populations.

Biomolecules & Therapeutics

Cho, Myung-A MA; Yoon, Jihoon G JG; Kim, Vitchan V; Kim, Harim H; Lee, Rowoon R; Lee, Min Goo MG; Kim, Donghak D

Publication Date: 2019-11-01

Variant appearance in text: rs72558189

PubMed Link: 31484472

Variant Present in the following documents:

• Main text
• bt-27-577.pdf

View BVdb publication page

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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: rs72558189

PubMed Link: 31306493

Variant Present in the following documents:

• CPT-107-203-s004.pdf

View BVdb publication page

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Recommendations for Clinical CYP2C9 Genotyping Allele Selection: A Joint Recommendation of the Association for Molecular Pathology and College of American Pathologists.

The Journal Of Molecular Diagnostics : Jmd

Pratt, Victoria M VM; Cavallari, Larisa H LH; Del Tredici, Andria L AL; Hachad, Houda H; Ji, Yuan Y; Moyer, Ann M AM; Scott, Stuart A SA; Whirl-Carrillo, Michelle M; Weck, Karen E KE

Publication Date: 2019-09

Variant appearance in text: CYP2C9: 374G>T; Arg125Leu; rs72558189

PubMed Link: 31075510

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: rs72558189

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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Counselees' Perspectives of Genomic Counseling Following Online Receipt of Multiple Actionable Complex Disease and Pharmacogenomic Results: a Qualitative Research Study.

Journal Of Genetic Counseling

Sweet, Kevin K; Hovick, Shelly S; Sturm, Amy C AC; Schmidlen, Tara T; Gordon, Erynn E; Bernhardt, Barbara B; Wawak, Lisa L; Wernke, Karen K; McElroy, Joseph J; Scheinfeldt, Laura L; Toland, Amanda E AE; Roberts, J S JS; Christman, Michael M

Publication Date: 2017-08

Variant appearance in text: rs72558189

PubMed Link: 27921197

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: rs72558189

PubMed Link: 25802476

Variant Present in the following documents:

• 542543.f1.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: rs72558189

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

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