Publications:

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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: CYP4F2: 554G>T; Gly185Val; rs3093153

PubMed Link: 35181665

Variant Present in the following documents:

• 41525_2022_283_MOESM4_ESM.xlsx, sheet 1

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: CYP4F2: G185V; rs3093153

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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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: CYP4F2: G185V; rs3093153

PubMed Link: 33424349

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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Deciphering the modifiers for phenotypic variability of X-linked adrenoleukodystrophy.

World Journal Of Biological Chemistry

Palakuzhiyil, Shruti V SV; Christopher, Rita R; Chandra, Sadanandavalli Retnaswami SR

Publication Date: 2020-11-27

Variant appearance in text: rs3093153

PubMed Link: 33274015

Variant Present in the following documents:

• Main text
• WJBC-11-99.pdf

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: CYP4F2: G185V; rs3093153

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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Recommendations for Clinical Warfarin Genotyping Allele Selection: A Report of the Association for Molecular Pathology and the 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; Kalman, Lisa V LV; Ly, Reynold C RC; Moyer, Ann M AM; Scott, Stuart A SA; Whirl-Carrillo, Michelle M; Weck, Karen E KE

Publication Date: 2020-07

Variant appearance in text: CYP4F2: 554G>T; Gly185Val; rs3093153

PubMed Link: 32380173

Variant Present in the following documents:

• Main text

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: CYP4F2: G185V; rs3093153

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1

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: CYP4F2: G185V; rs3093153

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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VKORC1 and Novel CYP2C9 Variation Predict Warfarin Response in Alaska Native and American Indian People.

Clinical And Translational Science

Henderson, Lindsay M LM; Robinson, Renee F RF; Ray, Lily L; Khan, Burhan A BA; Li, Tianran T; Dillard, Denise A DA; Schilling, Brian D BD; Mosley, Mike M; Janssen, Patricia L PL; Fohner, Alison E AE; Rettie, Allan E AE; Thummel, Kenneth E KE; Thornton, Timothy A TA; Veenstra, David L DL

Publication Date: 2019-05

Variant appearance in text: CYP4F2: G185V; rs3093153

PubMed Link: 30821933

Variant Present in the following documents:

• Main text

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: rs3093153

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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P450 Pharmacogenetics in Indigenous North American Populations.

Journal Of Personalized Medicine

Henderson, Lindsay M LM; Claw, Katrina G KG; Woodahl, Erica L EL; Robinson, Renee F RF; Boyer, Bert B BB; Burke, Wylie W; Thummel, Kenneth E KE

Publication Date: 2018-02-01

Variant appearance in text: CYP4F2: G185V; rs3093153

PubMed Link: 29389890

Variant Present in the following documents:

• Main text
• jpm-08-00009.pdf

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: rs3093153

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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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: rs3093153

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Characterization of 137 Genomic DNA Reference Materials for 28 Pharmacogenetic Genes: A GeT-RM Collaborative Project.

The Journal Of Molecular Diagnostics : Jmd

Pratt, Victoria M VM; Everts, Robin E RE; Aggarwal, Praful P; Beyer, Brittany N BN; Broeckel, Ulrich U; Epstein-Baak, Ruth R; Hujsak, Paul P; Kornreich, Ruth R; Liao, Jun J; Lorier, Rachel R; Scott, Stuart A SA; Smith, Chingying Huang CH; Toji, Lorraine H LH; Turner, Amy A; Kalman, Lisa V LV

Publication Date: 2016-01

Variant appearance in text: CYP4F2: G185V

PubMed Link: 26621101

Variant Present in the following documents:

• Main text

View BVdb publication page

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: CYP4F2: G185V; rs3093153

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 1
• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2

View BVdb publication page

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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: CYP4F2: G185V

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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Variation in genes controlling warfarin disposition and response in American Indian and Alaska Native people: CYP2C9, VKORC1, CYP4F2, CYP4F11, GGCX.

Pharmacogenetics And Genomics

Fohner, Alison E AE; Robinson, Renee R; Yracheta, Joseph J; Dillard, Denise A DA; Schilling, Brian B; Khan, Burhan B; Hopkins, Scarlett S; Boyer, Bert B; Black, Jynene J; Wiener, Howard H; Tiwari, Hemant K HK; Gordon, Adam A; Nickerson, Deborah D; Tsai, Jesse M JM; Farin, Federico M FM; Thornton, Timothy A TA; Rettie, Allan E AE; Thummel, Kenneth E KE

Publication Date: 2015-07

Variant appearance in text: CYP4F2: G185V; rs3093153

PubMed Link: 25946405

Variant Present in the following documents:

• Main text

View BVdb publication page

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XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One

Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F

Publication Date: 2015

Variant appearance in text: CYP4F2: G185V; rs3093153

PubMed Link: 25905921

Variant Present in the following documents:

• pone.0123569.s008.xls, sheet 10
• pone.0123569.s008.xls, sheet 5

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: rs3093153

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: CYP4F2: G185V; rs3093153

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.xls, sheet 1

View BVdb publication page

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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: CYP4F2: G185V; rs3093153

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.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: rs3093153

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

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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: CYP4F2: G185V; rs3093153

PubMed Link: 24340040

Variant Present in the following documents:

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

View BVdb publication page

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Absence of novel CYP4F2 and VKORC1 coding region DNA variants in patients requiring high warfarin doses.

Clinical Medicine & Research

Burmester, James K JK; Berg, Richard L RL; Glurich, Ingrid I; Yale, Steven H SH; Schmelzer, John R JR; Caldwell, Michael D MD

Publication Date: 2011-11

Variant appearance in text: CYP4F2: Gly185Val; rs3093153

PubMed Link: 21562135

Variant Present in the following documents:

• Main text

View BVdb publication page

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