Publications:

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs2279341

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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SLC7A8 coding for LAT2 is associated with early disease progression in osteosarcoma and transports doxorubicin.

Frontiers In Pharmacology

Hurkmans, Evelien G E EGE; Koenderink, Jan B JB; van den Heuvel, Jeroen J M W JJMW; Versleijen-Jonkers, Yvonne M H YMH; Hillebrandt-Roeffen, Melissa H S MHS; Groothuismink, Johanne M JM; Vos, Hanneke I HI; van der Graaf, Winette T A WTA; Flucke, Uta U; Muradjan, Grigor G; Schreuder, Hendrik W B HWB; Hagleitner, Melanie M MM; Brunner, Han G HG; Gelderblom, Hans H; Cleton-Jansen, Anne-Marie AM; Guchelaar, Henk-Jan HJ; de Bont, Eveline S J M ESJM; Touw, Daan J DJ; Nijhoff, G Jan GJ; Kremer, Leontien C M LCM; Caron, Huib H; Windsor, Rachael R; Patiño-García, Ana A; González-Neira, Anna A; Saletta, Federica F; McCowage, Geoff G; Nagabushan, Sumanth S; Catchpoole, Daniel D; Te Loo, D Maroeska W M DMWM; Coenen, Marieke J H MJH

Publication Date: 2022

Variant appearance in text: rs2279341

PubMed Link: 36438828

Variant Present in the following documents:

• Main text
• fphar-13-1042989.pdf

View BVdb publication page

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Association between gene polymorphisms in the cyclophosphamide metabolism pathway with complications after haploidentical hematopoietic stem cell transplantation.

Frontiers In Immunology

Muñiz, Paula P; Andrés-Zayas, Cristina C; Carbonell, Diego D; Chicano, María M; Bailén, Rebeca R; Oarbeascoa, Gillen G; Suárez-González, Julia J; Gómez Centurión, Ignacio I; Dorado, Nieves N; Gallardo, David D; Anguita, Javier J; Kwon, Mi M; Díez-Martín, Jose L JL; Martínez-Laperche, Carolina C; Buño, Ismael I

Publication Date: 2022

Variant appearance in text: rs2279341

PubMed Link: 36211438

Variant Present in the following documents:

• Main text
• fimmu-13-1002959.pdf
• Table_1.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: N/A

PubMed Link: 34621706

Variant Present in the following documents:

View BVdb publication page

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Pharmacogenetics of tenofovir and emtricitabine penetration into cerebrospinal fluid.

Southern African Journal Of Hiv Medicine

Decloedt, Eric H EH; Sinxadi, Phumla Z PZ; Wiesner, Lubbe L; Joska, John A JA; Haas, David W DW; Maartens, Gary G

Publication Date: 2021

Variant appearance in text: rs2279341

PubMed Link: 34007475

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)

Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S

Publication Date: 2021-06

Variant appearance in text: CYP2B6: P72P; rs2279341

PubMed Link: 33503336

Variant Present in the following documents:

• CNR2-4-e1335-s003.xlsx, sheet 2
• CNR2-4-e1335-s003.xlsx, sheet 1

View BVdb publication page

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Combination of Genome-Wide Polymorphisms and Copy Number Variations of Pharmacogenes in Koreans.

Journal Of Personalized Medicine

Han, Nayoung N; Oh, Jung Mi JM; Kim, In-Wha IW

Publication Date: 2021-01-07

Variant appearance in text: rs2279341

PubMed Link: 33430289

Variant Present in the following documents:

• Main text
• jpm-11-00033.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: N/A

PubMed Link: 33424349

Variant Present in the following documents:

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: N/A

PubMed Link: 32607875

Variant Present in the following documents:

View BVdb publication page

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: rs2279341

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 19

View BVdb publication page

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A pan-cancer analysis of synonymous mutations.

Nature Communications

Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S

Publication Date: 2019-06-12

Variant appearance in text: CYP2B6: 216G>A

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM7_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: N/A

PubMed Link: 31159795

Variant Present in the following documents:

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: rs2279341

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

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: rs2279341

PubMed Link: 25802476

Variant Present in the following documents:

• 542543.f1.xlsx, 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: N/A

PubMed Link: 25390934

Variant Present in the following documents:

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: rs2279341

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

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