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: L91M

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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Characterization of Novel CYP2D6 Alleles across Sub-Saharan African Populations.

Journal Of Personalized Medicine

Wang, Wendy Y WY; Twesigomwe, David D; Nofziger, Charity C; Turner, Amy J AJ; Helmecke, Lena-Sophie LS; Broeckel, Ulrich U; Derezinski, Ashley D AD; Hazelhurst, Scott S; Gaedigk, Andrea A

Publication Date: 2022-09-24

Variant appearance in text: CYP2D6: L91M

PubMed Link: 36294714

Variant Present in the following documents:

• Main text
• jpm-12-01575.pdf

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: CYP2D6: L91M; rs28371703

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Genetic Variant ABCC1 rs45511401 Is Associated with Increased Response to Statins in Patients with Familial Hypercholesterolemia.

Pharmaceutics

Dagli-Hernandez, Carolina C; Borges, Jéssica Bassani JB; Marçal, Elisangela da Silva Rodrigues EDSR; de Freitas, Renata Caroline Costa RCC; Mori, Augusto Akira AA; Gonçalves, Rodrigo Marques RM; Faludi, Andre Arpad AA; de Oliveira, Victor Fernandes VF; Ferreira, Glaucio Monteiro GM; Bastos, Gisele Medeiros GM; Zhou, Yitian Y; Lauschke, Volker M VM; Cerda, Alvaro A; Hirata, Mario Hiroyuki MH; Hirata, Rosario Dominguez Crespo RDC

Publication Date: 2022-04-27

Variant appearance in text: CYP2D6: 271C>A; Leu91Met; rs28371703

PubMed Link: 35631530

Variant Present in the following documents:

• pharmaceutics-14-00944.pdf

View BVdb publication page

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Multiomics Landscape Uncovers the Molecular Mechanism of the Malignant Evolution of Lung Adenocarcinoma Cells to Chronic Low Dose Cadmium Exposure.

Frontiers In Oncology

Dai, Shun-Dong SD; Wang, Shuang S; Qin, Ya-Nan YN; Zhu, Jin-Chao JC

Publication Date: 2021

Variant appearance in text: CYP2D6: L91M

PubMed Link: 34858801

Variant Present in the following documents:

• Table_1.xls, 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: L91M; rs28371703

PubMed Link: 34823523

Variant Present in the following documents:

• Main text
• 12936_2021_Article_3988.pdf

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: 271C>A; L91M; rs28371703

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 1

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: L91M; rs28371703

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: L91M; rs28371703

PubMed Link: 33424349

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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A Pharmacogenomic Dissection of a Rosuvastatin-Induced Rhabdomyolysis Case Evokes the Polygenic Nature of Adverse Drug Reactions.

Pharmacogenomics And Personalized Medicine

Calderon-Ospina, Carlos Alberto CA; Hernández-Sómerson, Mario M; García, Ana María AM; Mejia, Adriana A; Tamayo-Agudelo, Caroll C; Laissue, Paul P; Fonseca Mendoza, Dora Janeth DJ

Publication Date: 2020

Variant appearance in text: CYP2D6: 271C>A; Leu91Met; rs28371703

PubMed Link: 32184647

Variant Present in the following documents:

• Main text
• pgpm-13-59.pdf

View BVdb publication page

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Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics

Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA

Publication Date: 2020-02-10

Variant appearance in text: CYP2D6: 271C>A; Leu91Met

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 4
• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3

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: CYP2D6: L91M; rs28371703

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_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: CYP2D6: L91M; rs28371703

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: L91M; rs28371703

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: CYP2D6: 271C>A; Leu91Met; rs28371703

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Microsecond MD simulations of human CYP2D6 wild-type and five allelic variants reveal mechanistic insights on the function.

Plos One

Don, Charleen G CG; Smieško, Martin M

Publication Date: 2018

Variant appearance in text: CYP2D6: L91M

PubMed Link: 30133539

Variant Present in the following documents:

• Main text
• pone.0202534.s001.pdf
• pone.0202534.pdf

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: 271C>A; L91M; rs28371703

PubMed Link: 29458047

Variant Present in the following documents:

• Main text

View BVdb publication page

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CYP2D6 polymorphisms may predict occurrence of adverse effects to tamoxifen: a preliminary retrospective study.

Breast Cancer (Dove Medical Press)

Wickramage, Ishani I; Tennekoon, Kamani Hemamala KH; Ariyaratne, Merenchi Arachchige Yasantha MA; Hewage, Asanka Sudeshini AS; Sundralingam, Tharmini T

Publication Date: 2017

Variant appearance in text: CYP2D6: L91M

PubMed Link: 28293118

Variant Present in the following documents:

• Main text
• bctt-9-111.pdf

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: 271C>A; Leu91Met

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: Leu91Met; rs28371703

PubMed Link: 27228982

Variant Present in the following documents:

• Main text
• 12864_2016_Article_2719.pdf

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: L91M

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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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: L91M; rs28371703

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Genetic factors affecting statin concentrations and subsequent myopathy: a HuGENet systematic review.

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

Canestaro, William J WJ; Austin, Melissa A MA; Thummel, Kenneth E KE

Publication Date: 2014-11

Variant appearance in text: CYP2D6: L91M

PubMed Link: 24810685

Variant Present in the following documents:

• Main text

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: CYP2D6: L91M

PubMed Link: 24340040

Variant Present in the following documents:

• Main text
• pone.0082562.s001.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: L91M

PubMed Link: 23778323

Variant Present in the following documents:

• Main text

View BVdb publication page

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Introduction of the AmpliChip CYP450 Test to a South African cohort: a platform comparative prospective cohort study.

Bmc Medical Genetics

Dodgen, Tyren M TM; Hochfeld, Warren E WE; Fickl, Heidi H; Asfaha, Sahle M SM; Durandt, Chrisna C; Rheeder, Paul P; Drögemöller, Britt I BI; Wright, Galen E B GE; Warnich, Louise L; Labuschagne, Christiaan D J CD; van Schalkwyk, Antoinette A; Gaedigk, Andrea A; Pepper, Michael S MS

Publication Date: 2013-01-29

Variant appearance in text: CYP2D6: L91M

PubMed Link: 23356658

Variant Present in the following documents:

• 1471-2350-14-20-S6.pdf

View BVdb publication page

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Bimodal targeting of microsomal cytochrome P450s to mitochondria: implications in drug metabolism and toxicity.

Expert Opinion On Drug Metabolism & Toxicology

Sangar, Michelle C MC; Bansal, Seema S; Avadhani, Narayan G NG

Publication Date: 2010-10

Variant appearance in text: CYP2D6: L91M

PubMed Link: 20629582

Variant Present in the following documents:

• Main text

View BVdb publication page

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