Publications:

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A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER

Publication Date: 2023-03-16

Variant appearance in text: CYP2D6: V11M

PubMed Link: 36928921

Variant Present in the following documents:

• ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3

View BVdb publication page

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Construction and validation of an immunoediting-based optimized neoantigen load (ioTNL) model to predict the response and prognosis of immune checkpoint therapy in various cancers.

Aging

Su, Xiaofan X; Jin, Haoxuan H; Wang, Jiaqian J; Lu, Huiping H; Gu, Tiantian T; Gao, Zhibo Z; Li, Manxiang M

Publication Date: 2022-05-25

Variant appearance in text: CYP2D6: 31G>A; V11M

PubMed Link: 35613927

Variant Present in the following documents:

• aging-14-204101-s004.xlsx, sheet 1

View BVdb publication page

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Prediction of the CYP2D6 enzymatic activity based on investigating of the CYP2D6 genotypes around the vivax malaria patients in Yunnan Province, China.

Malaria Journal

Dong, Ying Y; Huang, Herong H; Deng, Yan Y; Xu, Yanchun Y; Chen, Mengni M; Liu, Yan Y; Zhang, Canglin C

Publication Date: 2021-11-25

Variant appearance in text: CYP2D6: V11M; rs769258

PubMed Link: 34823523

Variant Present in the following documents:

• Main text
• 12936_2021_Article_3988.pdf

View BVdb publication page

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Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer

Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC

Publication Date: 2021-05-29

Variant appearance in text: CYP2D6: 31G>A; Val11Met; rs769258

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1

View BVdb publication page

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Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One

Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S

Publication Date: 2021

Variant appearance in text: CYP2D6: 31G>A; V11M; rs769258

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 2
• pone.0249324.s003.xlsx, sheet 3

View BVdb publication page

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The association of CYP2D6 gene polymorphisms in the full-length coding region with higher recurrence rate of vivax malaria in Yunnan Province, China.

Malaria Journal

Huang, Herong H; Dong, Ying Y; Xu, Yanchun Y; Deng, Yan Y; Zhang, Canglin C; Liu, Shuping S; Chen, Mengni M; Liu, Yan Y

Publication Date: 2021-03-20

Variant appearance in text: CYP2D6: V11M; rs769258

PubMed Link: 33743705

Variant Present in the following documents:

• Main text
• 12936_2021_Article_3685.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: CYP2D6: V11M; rs769258

PubMed Link: 33424349

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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Data on the endogenous conversion of tyrosol into hydroxytyrosol in humans.

Data In Brief

Boronat, Anna A; Mateus, Julian J; Soldevila-Domenech, Natalia N; Guerra, Mercè M; Rodríguez-Morató, Jose J; Varon, Carlota C; Muñoz, Daniel D; Barbosa, Francina F; Morales, Juan Carlos JC; Gaedigk, Andreas A; Langohr, Klaus K; Covas, Maria-Isabel MI; Pérez-Mañá, Clara C; Fitó, Montserrat M; Tyndale, Rachel F RF; de la Torre, Rafael R

Publication Date: 2019-12

Variant appearance in text: CYP2D6: Val11Met; rs769258

PubMed Link: 31788516

Variant Present in the following documents:

• Main text
• main.pdf

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: CYP2D6: V11M; rs769258

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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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: CYP2D6: V11M; rs769258

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13

View BVdb publication page

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An optimized prediction framework to assess the functional impact of pharmacogenetic variants.

The Pharmacogenomics Journal

Zhou, Yitian Y; Mkrtchian, Souren S; Kumondai, Masaki M; Hiratsuka, Masahiro M; Lauschke, Volker M VM

Publication Date: 2019-04

Variant appearance in text: CYP2D6: V11M; rs769258

PubMed Link: 30206299

Variant Present in the following documents:

• 41397_2018_44_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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The evolutionary pattern of mutations in glioblastoma reveals therapy-mediated selection.

Oncotarget

Muscat, Andrea M AM; Wong, Nicholas C NC; Drummond, Katharine J KJ; Algar, Elizabeth M EM; Khasraw, Mustafa M; Verhaak, Roel R; Field, Kathryn K; Rosenthal, Mark A MA; Ashley, David M DM

Publication Date: 2018-01-30

Variant appearance in text: CYP2D6: 31G>A; Val11Met; rs769258

PubMed Link: 29487696

Variant Present in the following documents:

• oncotarget-09-7844-s003.xlsx, sheet 1

View BVdb publication page

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Effects of cytochrome P450 single nucleotide polymorphisms on methadone metabolism and pharmacodynamics.

Biochemical Pharmacology

Ahmad, Taha T; Valentovic, Monica A MA; Rankin, Gary O GO

Publication Date: 2018-07

Variant appearance in text: CYP2D6: 31G>A; V11M; rs769258

PubMed Link: 29458047

Variant Present in the following documents:

• Main text

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: CYP2D6: V11M; rs769258

PubMed Link: 29389890

Variant Present in the following documents:

• Main text
• jpm-08-00009.pdf

View BVdb publication page

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Analysis of Genetic Variation in CYP450 Genes for Clinical Implementation.

Plos One

Goh, Liuh Ling LL; Lim, Chia Wei CW; Sim, Wey Cheng WC; Toh, Li Xian LX; Leong, Khai Pang KP

Publication Date: 2017

Variant appearance in text: CYP2D6: V11M; rs769258

PubMed Link: 28046094

Variant Present in the following documents:

• Main text
• pone.0169233.pdf

View BVdb publication page

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Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.

Oncotarget

Raaijmakers, Marieke I G MI; Widmer, Daniel S DS; Narechania, Apurva A; Eichhoff, Ossia O; Freiberger, Sandra N SN; Wenzina, Judith J; Cheng, Phil F PF; Mihic-Probst, Daniela D; Desalle, Rob R; Dummer, Reinhard R; Levesque, Mitchell P MP

Publication Date: 2016-11-22

Variant appearance in text: CYP2D6: V11M

PubMed Link: 27791198

Variant Present in the following documents:

• oncotarget-07-77163-s002.xlsx, sheet 11
• oncotarget-07-77163-s003.xlsx, sheet 11

View BVdb publication page

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Assessing the capability of massively parallel sequencing for opportunistic pharmacogenetic screening.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Ng, David D; Hong, Celine S CS; Singh, Larry N LN; Johnston, Jennifer J JJ; Mullikin, James C JC; Biesecker, Leslie G LG

Publication Date: 2017-03

Variant appearance in text: CYP2D6: 31G>A; Val11Met

PubMed Link: 27537706

Variant Present in the following documents:

• NIHMS802548-supplement-Table_S4.pdf

View BVdb publication page

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Genetic polymorphisms analysis of CYP2D6 in the Uygur population.

Bmc Genomics

He, Xue X; He, Na N; Ren, Lisong L; Ouyang, Yongri Y; Zhang, Ning N; Ma, Yini Y; Yuan, Dongya D; Kang, Longli L; Jin, Tianbo T

Publication Date: 2016-05-26

Variant appearance in text: CYP2D6: Val11Met; rs769258

PubMed Link: 27228982

Variant Present in the following documents:

• Main text
• 12864_2016_Article_2719.pdf

View BVdb publication page

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CYP2D7 Sequence Variation Interferes with TaqMan CYP2D6 (*) 15 and (*) 35 Genotyping.

Frontiers In Pharmacology

Riffel, Amanda K AK; Dehghani, Mehdi M; Hartshorne, Toinette T; Floyd, Kristen C KC; Leeder, J Steven JS; Rosenblatt, Kevin P KP; Gaedigk, Andrea A

Publication Date: 2015

Variant appearance in text: CYP2D6: V11M; rs769258

PubMed Link: 26793106

Variant Present in the following documents:

• Main text
• fphar-06-00312.pdf

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: CYP2D6: 31G>A; V11M

PubMed Link: 26621101

Variant Present in the following documents:

• Main text

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: CYP2D6: V11M

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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: CYP2D6: V11M; rs769258

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.xls, sheet 1

View BVdb publication page

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Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications

Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP

Publication Date: 2014-12-24

Variant appearance in text: CYP2D6: 31G>A; V11M; rs769258

PubMed Link: 25589003

Variant Present in the following documents:

• 40478_2014_167_MOESM1_ESM.xlsx, sheet 6

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: CYP2D6: V11M; rs769258

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Pharmacogenetics in American Indian populations: analysis of CYP2D6, CYP3A4, CYP3A5, and CYP2C9 in the Confederated Salish and Kootenai Tribes.

Pharmacogenetics And Genomics

Fohner, Alison A; Muzquiz, LeeAnna I LI; Austin, Melissa A MA; Gaedigk, Andrea A; Gordon, Adam A; Thornton, Timothy T; Rieder, Mark J MJ; Pershouse, Mark A MA; Putnam, Elizabeth A EA; Howlett, Kevin K; Beatty, Patrick P; Thummel, Kenneth E KE; Woodahl, Erica L EL

Publication Date: 2013-08

Variant appearance in text: CYP2D6: V11M

PubMed Link: 23778323

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pharmacogenomic Diversity among Brazilians: Influence of Ancestry, Self-Reported Color, and Geographical Origin.

Frontiers In Pharmacology

Suarez-Kurtz, Guilherme G; Pena, Sergio Danilo Juno SD; Struchiner, Claudio José CJ; Hutz, Mara Helena MH

Publication Date: 2012

Variant appearance in text: CYP2D6: V11M; rs769258

PubMed Link: 23133420

Variant Present in the following documents:

• Main text

View BVdb publication page

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Characterization of 107 genomic DNA reference materials for CYP2D6, CYP2C19, CYP2C9, VKORC1, and UGT1A1: a GeT-RM and Association for Molecular Pathology collaborative project.

The Journal Of Molecular Diagnostics : Jmd

Pratt, Victoria M VM; Zehnbauer, Barbara B; Wilson, Jean Amos JA; Baak, Ruth R; Babic, Nikolina N; Bettinotti, Maria M; Buller, Arlene A; Butz, Ken K; Campbell, Matthew M; Civalier, Chris C; El-Badry, Abdalla A; Farkas, Daniel H DH; Lyon, Elaine E; Mandal, Saptarshi S; McKinney, Jason J; Muralidharan, Kasinathan K; Noll, LeAnne L; Sander, Tara T; Shabbeer, Junaid J; Smith, Chingying C; Telatar, Milhan M; Toji, Lorraine L; Vairavan, Anand A; Vance, Carlos C; Weck, Karen E KE; Wu, Alan H B AH; Yeo, Kiang-Teck J KT; Zeller, Markus M; Kalman, Lisa L

Publication Date: 2010-11

Variant appearance in text: CYP2D6: 31G>A

PubMed Link: 20889555

Variant Present in the following documents:

• Main text

View BVdb publication page

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