Publications:

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Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters

Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV

Publication Date: 2023-02

Variant appearance in text: TPMT: 537G>T; Q179H

PubMed Link: 36644153

Variant Present in the following documents:

• Supplementary_Data5.xlsx, sheet 1

View BVdb publication page

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A bioinformatics approach to the identification of novel deleterious mutations of human TPMT through validated screening and molecular dynamics.

Scientific Reports

Saxena, Sidharth S; Krishna Murthy, T P TP; Chandrashekhar, C R CR; Patil, Lavan S LS; Aditya, Abhinav A; Shukla, Rohit R; Yadav, Arvind Kumar AK; Singh, Tiratha Raj TR; Samantaray, Mahesh M; Ramaswamy, Amutha A

Publication Date: 2022-11-07

Variant appearance in text: rs6921269

PubMed Link: 36344599

Variant Present in the following documents:

• 41598_2022_23488_MOESM2_ESM.xlsx, sheet 1

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: TPMT: 537G>T; Gln179His; rs6921269

PubMed Link: 35181665

Variant Present in the following documents:

• 41525_2022_283_MOESM2_ESM.xlsx, sheet 1
• 41525_2022_283_MOESM4_ESM.xlsx, sheet 1

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: TPMT: Q179H; rs6921269

PubMed Link: 35089958

Variant Present in the following documents:

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

View BVdb publication page

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Pharmacogenomic testing in paediatrics: Clinical implementation strategies.

British Journal Of Clinical Pharmacology

Barker, Charlotte I S CIS; Groeneweg, Gabriella G; Maitland-van der Zee, Anke H AH; Rieder, Michael J MJ; Hawcutt, Daniel B DB; Hubbard, Tim J TJ; Swen, Jesse J JJ; Carleton, Bruce C BC

Publication Date: 2022-10

Variant appearance in text: rs6921269

PubMed Link: 34907575

Variant Present in the following documents:

• Main text
• BCP-88-4297.pdf

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: TPMT: 537G>T; Q179H; rs6921269

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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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: TPMT: 537G>T; Q179H; rs6921269

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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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: rs6921269

PubMed Link: 31306493

Variant Present in the following documents:

• CPT-107-203-s004.pdf

View BVdb publication page

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Applying Multiplex Assays to Understand Variation in Pharmacogenes.

Clinical Pharmacology And Therapeutics

Chiasson, Melissa M; Dunham, Maitreya J MJ; Rettie, Allan E AE; Fowler, Douglas M DM

Publication Date: 2019-08

Variant appearance in text: TPMT: Q179H

PubMed Link: 31145826

Variant Present in the following documents:

• Main text

View BVdb publication page

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TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications

Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N

Publication Date: 2018-11-01

Variant appearance in text: TPMT: Q179H; rs6921269

PubMed Link: 30385747

Variant Present in the following documents:

• 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Multiplex assessment of protein variant abundance by massively parallel sequencing.

Nature Genetics

Matreyek, Kenneth A KA; Starita, Lea M LM; Stephany, Jason J JJ; Martin, Beth B; Chiasson, Melissa A MA; Gray, Vanessa E VE; Kircher, Martin M; Khechaduri, Arineh A; Dines, Jennifer N JN; Hause, Ronald J RJ; Bhatia, Smita S; Evans, William E WE; Relling, Mary V MV; Yang, Wenjian W; Shendure, Jay J; Fowler, Douglas M DM

Publication Date: 2018-06

Variant appearance in text: TPMT: Gln179His

PubMed Link: 29785012

Variant Present in the following documents:

• Main text
• nihms956040.pdf

View BVdb publication page

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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: rs6921269

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s005.xlsx, sheet 2

View BVdb publication page

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: TPMT: Q179H

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s4.xls, sheet 1

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: TPMT: Q179H; rs6921269

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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: N/A

PubMed Link: 26206375

Variant Present in the following documents:

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: rs6921269

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: rs6921269

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

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New genetic biomarkers predicting azathioprine blood concentrations in combination therapy with 5-aminosalicylic acid.

Plos One

Uchiyama, Kazuhiko K; Takagi, Tomohisa T; Iwamoto, Yasunori Y; Kondo, Norihiko N; Okayama, Tetsuya T; Yoshida, Naohisa N; Kamada, Kazuhiro K; Katada, Kazuhiro K; Handa, Osamu O; Ishikawa, Takeshi T; Yasuda, Hiroaki H; Sakagami, Junichi J; Konishi, Hideyuki H; Yagi, Nobuaki N; Naito, Yuji Y; Itoh, Yoshito Y

Publication Date: 2014

Variant appearance in text: rs6921269

PubMed Link: 24762746

Variant Present in the following documents:

• Main text
• pone.0095080.pdf

View BVdb publication page

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Nomenclature for alleles of the thiopurine methyltransferase gene.

Pharmacogenetics And Genomics

Appell, Malin L ML; Berg, Jonathan J; Duley, John J; Evans, William E WE; Kennedy, Martin A MA; Lennard, Lynne L; Marinaki, Tony T; McLeod, Howard L HL; Relling, Mary V MV; Schaeffeler, Elke E; Schwab, Matthias M; Weinshilboum, Richard R; Yeoh, Allen E J AE; McDonagh, Ellen M EM; Hebert, Joan M JM; Klein, Teri E TE; Coulthard, Sally A SA

Publication Date: 2013-04

Variant appearance in text: TPMT: Gln179His; rs6921269

PubMed Link: 23407052

Variant Present in the following documents:

• Main text

View BVdb publication page

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Very important pharmacogene summary: thiopurine S-methyltransferase.

Pharmacogenetics And Genomics

Wang, Liewei L; Pelleymounter, Linda L; Weinshilboum, Richard R; Johnson, Julie A JA; Hebert, Joan M JM; Altman, Russ B RB; Klein, Teri E TE

Publication Date: 2010-06

Variant appearance in text: TPMT: 537G>T; Gln179His

PubMed Link: 20154640

Variant Present in the following documents:

• Main text

View BVdb publication page

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