Publications:

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Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.

Nature Genetics

Schlosser, Pascal P; Scherer, Nora N; Grundner-Culemann, Franziska F; Monteiro-Martins, Sara S; Haug, Stefan S; Steinbrenner, Inga I; Uluvar, Burulça B; Wuttke, Matthias M; Cheng, Yurong Y; Ekici, Arif B AB; Gyimesi, Gergely G; Karoly, Edward D ED; Kotsis, Fruzsina F; Mielke, Johanna J; Gomez, Maria F MF; Yu, Bing B; Grams, Morgan E ME; Coresh, Josef J; Boerwinkle, Eric E; Köttgen, Michael M; Kronenberg, Florian F; Meiselbach, Heike H; Mohney, Robert P RP; Akilesh, Shreeram S; , ; Schmidts, Miriam M; Hediger, Matthias A MA; Schultheiss, Ulla T UT; Eckardt, Kai-Uwe KU; Oefner, Peter J PJ; Sekula, Peggy P; Li, Yong Y; Köttgen, Anna A

Publication Date: 2023-06-05

Variant appearance in text: UGT2B15: 253T>G; Tyr85Asp; rs1902023

PubMed Link: 37277652

Variant Present in the following documents:

• 41588_2023_1409_MOESM5_ESM.pdf
• 41588_2023_1409_MOESM6_ESM.xlsx, sheet 17

View BVdb publication page

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: UGT2B15: Y85D

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: UGT2B15: Y85D; rs1902023

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

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Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.

Embo Molecular Medicine

El-Gazzar, Ahmed A; Voraberger, Barbara B; Rauch, Frank F; Mairhofer, Mario M; Schmidt, Katy K; Guillemyn, Brecht B; Mitulović, Goran G; Reiterer, Veronika V; Haun, Margot M; Mayr, Michaela M MM; Mayr, Johannes A JA; Kimeswenger, Susanne S; Drews, Oliver O; Saraff, Vrinda V; Shaw, Nick N; Fratzl-Zelman, Nadja N; Symoens, Sofie S; Farhan, Hesso H; Högler, Wolfgang W

Publication Date: 2023-03-14

Variant appearance in text: UGT2B15: 253T>G; Tyr85Asp

PubMed Link: 36916446

Variant Present in the following documents:

• EMMM-15-e16834-s012.xlsx, sheet 1

View BVdb publication page

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: UGT2B15: 253T>G; Tyr85Asp

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Therapeutic and Toxic Effects of Valproic Acid Metabolites.

Metabolites

Shnayder, Natalia A NA; Grechkina, Violetta V VV; Khasanova, Aiperi K AK; Bochanova, Elena N EN; Dontceva, Evgenia A EA; Petrova, Marina M MM; Asadullin, Azat R AR; Shipulin, German A GA; Altynbekov, Kuanysh S KS; Al-Zamil, Mustafa M; Nasyrova, Regina F RF

Publication Date: 2023-01-16

Variant appearance in text: rs1902023

PubMed Link: 36677060

Variant Present in the following documents:

• Main text
• metabolites-13-00134.pdf

View BVdb publication page

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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: rs1902023

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: UGT2B15: Y85D

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2

View BVdb publication page

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Integrated longitudinal analysis of adult grade 4 diffuse gliomas with long-term relapse interval revealed upregulation of TGF-β signaling in recurrent tumors.

Neuro-Oncology

Kashani, Elham E; Schnidrig, Désirée D; Hashemi Gheinani, Ali A; Ninck, Martina Selina MS; Zens, Philipp P; Maragkou, Theoni T; Baumgartner, Ulrich U; Schucht, Philippe P; Rätsch, Gunnar G; Rubin, Mark A MA; Berezowska, Sabina S; Ng, Charlotte K Y CKY; Vassella, Erik E; ,

Publication Date: 2022-09-17

Variant appearance in text: UGT2B15: 253T>G; Tyr85Asp; rs1902023

PubMed Link: 36124685

Variant Present in the following documents:

• noac220_suppl_supplementary_table_s3.xlsx, sheet 1

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: UGT2B15: Y85D

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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Characterization of ADME Gene Variation in Colombian Population by Exome Sequencing.

Frontiers In Pharmacology

Silgado-Guzmán, Daniel Felipe DF; Angulo-Aguado, Mariana M; Morel, Adrien A; Niño-Orrego, María José MJ; Ruiz-Torres, Daniel-Armando DA; Contreras Bravo, Nora Constanza NC; Restrepo, Carlos Martin CM; Ortega-Recalde, Oscar O; Fonseca-Mendoza, Dora Janeth DJ

Publication Date: 2022

Variant appearance in text: rs1902023

PubMed Link: 35846994

Variant Present in the following documents:

• Table1.xlsx, sheet 1
• fphar-13-931531.pdf

View BVdb publication page

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Pharmacogenetics of Breast Cancer Treatments: A Sub-Saharan Africa Perspective.

Pharmacogenomics And Personalized Medicine

Nthontho, Keneuoe Cecilia KC; Ndlovu, Andrew Khulekani AK; Sharma, Kirthana K; Kasvosve, Ishmael I; Hertz, Daniel Louis DL; Paganotti, Giacomo Maria GM

Publication Date: 2022

Variant appearance in text: rs1902023

PubMed Link: 35761855

Variant Present in the following documents:

• Main text
• pgpm-15-613.pdf

View BVdb publication page

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Ratios of Acetaminophen Metabolites Identify New Loci of Pharmacogenetic Relevance in a Genome-Wide Association Study.

Metabolites

Thareja, Gaurav G; Evans, Anne M AM; Wood, Spencer D SD; Stephan, Nisha N; Zaghlool, Shaza S; Halama, Anna A; Kastenmüller, Gabi G; Belkadi, Aziz A; Albagha, Omar M E OME; The Qatar Genome Program Research Consortium, ; Suhre, Karsten K

Publication Date: 2022-05-30

Variant appearance in text: rs1902023

PubMed Link: 35736429

Variant Present in the following documents:

• Main text
• metabolites-12-00496.pdf

View BVdb publication page

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Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.

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

Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A

Publication Date: 2022-08-15

Variant appearance in text: UGT2B15: Y85D; rs1902023

PubMed Link: 35653148

Variant Present in the following documents:

• ccr-21-3189_supplementary_tables_ts1-9_suppts1-9.xlsx, sheet 5

View BVdb publication page

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Dabigatran Acylglucuronide, the Major Metabolite of Dabigatran, Shows a Weaker Anticoagulant Effect than Dabigatran.

Pharmaceutics

Kim, Jong-Min JM; Noh, Jihyeon J; Park, Jin-Woo JW; Chung, Hyewon H; Kim, Kyoung-Ah KA; Park, Seung Bin SB; Lee, Jun-Seok JS; Park, Ji-Young JY

Publication Date: 2022-01-22

Variant appearance in text: rs1902023

PubMed Link: 35213990

Variant Present in the following documents:

• Main text
• pharmaceutics-14-00257.pdf

View BVdb publication page

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Neoadjuvant PD-1 Blockade Combined With Chemotherapy Followed by Concurrent Immunoradiotherapy in Locally Advanced Anal Canal Squamous Cell Carcinoma Patients: Antitumor Efficacy, Safety and Biomarker Analysis.

Frontiers In Immunology

Xiao, WeiWei W; Yuan, Yan Y; Wang, SuiHai S; Liao, Zhidong Z; Cai, PeiQiang P; Chen, BaoQing B; Zhang, Rong R; Wang, Fang F; Zeng, ZhiFan Z; Gao, YuanHong Y

Publication Date: 2021

Variant appearance in text: UGT2B15: Y85D

PubMed Link: 35095878

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Preliminary Pharmacogenomic-Based Predictive Models of Tamoxifen Response in Hormone-dependent Chilean Breast Cancer Patients.

Frontiers In Pharmacology

Miranda, Carla C; Galleguillos, Macarena M; Torres, Roberto R; Tardón, Karla K; Cáceres, Dante D DD; Lee, Kuen K; Redal, María A MA; Varela, Nelson M NM; Quiñones, Luis A LA

Publication Date: 2021

Variant appearance in text: UGT2B15: Tyr85Asp; rs1902023

PubMed Link: 34899282

Variant Present in the following documents:

• Main text
• DataSheet1.pdf
• fphar-12-661443.pdf

View BVdb publication page

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Variants in COMT, CYP3A5, CYP2B6, and ABCG2 Alter Quetiapine Pharmacokinetics.

Pharmaceutics

Zubiaur, Pablo P; Fernández-Campos, Paula P; Navares-Gómez, Marcos M; Soria-Chacartegui, Paula P; Villapalos-García, Gonzalo G; Román, Manuel M; Mejía-Abril, Gina G; Ochoa, Dolores D; Abad-Santos, Francisco F

Publication Date: 2021-09-28

Variant appearance in text: rs1902023

PubMed Link: 34683865

Variant Present in the following documents:

• Main text
• pharmaceutics-13-01573.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: rs1902023

PubMed Link: 34621706

Variant Present in the following documents:

• tcp-29-135-s001.xls, sheet 1

View BVdb publication page

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The use of esketamine in comorbid treatment resistant depression and obsessive compulsive disorder following extensive pharmacogenomic testing: a case report.

Annals Of General Psychiatry

Matteo, Marcatili M; Cristian, Pellicioli P; Laura, Maggioni M; Federico, Motta M; Chiara, Redaelli R; Lorenzo, Ghelfi G; Michaela, Krivosova K; Sibilla, Matteo M; Roberto, Nava N; Fabrizia, Colmegna C; Antonios, Dakanalis D; Alice, Caldiroli C; Enrico, Capuzzi C; Beatrice, Benatti B; Francesca, Bertola B; Nicoletta, Villa V; Alberto, Piperno P; Silvia, Ippolito I; Massimo, Clerici C

Publication Date: 2021-09-16

Variant appearance in text: rs1902023

PubMed Link: 34530843

Variant Present in the following documents:

• Main text

View BVdb publication page

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PriME-PGx: La Princesa University Hospital Multidisciplinary Initiative for the Implementation of Pharmacogenetics.

Journal Of Clinical Medicine

Zubiaur, Pablo P; Mejía-Abril, Gina G; Navares-Gómez, Marcos M; Villapalos-García, Gonzalo G; Soria-Chacartegui, Paula P; Saiz-Rodríguez, Miriam M; Ochoa, Dolores D; Abad-Santos, Francisco F

Publication Date: 2021-08-24

Variant appearance in text: rs1902023

PubMed Link: 34501219

Variant Present in the following documents:

• Main text
• jcm-10-03772.pdf

View BVdb publication page

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Pharmacogenomics Guided Prescription Changes Improved Medication Effectiveness in Patients With Mental Health-Related Disability: A Retrospective Cohort Analyses.

Frontiers In Genetics

Ahmed, Sanjida S; Tahir, Ramzan R; Akhtar, Umbreen U; Faiz, Mark M

Publication Date: 2021

Variant appearance in text: rs1902023

PubMed Link: 34413872

Variant Present in the following documents:

• Main text
• fgene-12-644694.pdf

View BVdb publication page

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Gene Variants Determine Placental Transfer of Perfluoroalkyl Substances (PFAS), Mercury (Hg) and Lead (Pb), and Birth Outcome: Findings From the UmMuKi Bratislava-Vienna Study.

Frontiers In Genetics

Gundacker, Claudia C; Graf-Rohrmeister, Klaudia K; Gencik, Martin M; Hengstschläger, Markus M; Holoman, Karol K; Rosa, Petra P; Kroismayr, Renate R; Offenthaler, Ivo I; Plichta, Veronika V; Reischer, Theresa T; Teufl, Isabella I; Raffesberg, Wolfgang W; Scharf, Sigrid S; Köhler-Vallant, Birgit B; Delissen, Zoja Z; Weiß, Stefan S; Uhl, Maria M

Publication Date: 2021

Variant appearance in text: UGT2B15: Tyr85Asp; rs1902023

PubMed Link: 34220941

Variant Present in the following documents:

• Main text
• fgene-12-664946.pdf

View BVdb publication page

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Genetic mechanisms of HLA-I loss and immune escape in diffuse large B cell lymphoma.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Fangazio, Marco M; Ladewig, Erik E; Gomez, Karen K; Garcia-Ibanez, Laura L; Kumar, Rahul R; Teruya-Feldstein, Julie J; Rossi, Davide D; Filip, Ioan I; Pan-Hammarström, Qiang Q; Inghirami, Giorgio G; Boldorini, Renzo R; Ott, German G; Staiger, Annette M AM; Chapuy, Björn B; Gaidano, Gianluca G; Bhagat, Govind G; Basso, Katia K; Rabadan, Raul R; Pasqualucci, Laura L; Dalla-Favera, Riccardo R

Publication Date: 2021-06-01

Variant appearance in text: UGT2B15: Y85D

PubMed Link: 34050029

Variant Present in the following documents:

• pnas.2104504118.sd02.xlsx, sheet 1

View BVdb publication page

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Using Pharmacogenetics of Direct Oral Anticoagulants to Predict Changes in Their Pharmacokinetics and the Risk of Adverse Drug Reactions.

Biomedicines

Shnayder, Natalia A NA; Petrova, Marina M MM; Shesternya, Pavel A PA; Savinova, Alina V AV; Bochanova, Elena N EN; Zimnitskaya, Olga V OV; Pozhilenkova, Elena A EA; Nasyrova, Regina F RF

Publication Date: 2021-04-22

Variant appearance in text: rs1902023

PubMed Link: 33922084

Variant Present in the following documents:

• Main text

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: UGT2B15: Y85D; rs1902023

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Gene-environment interactions between air pollution and biotransformation enzymes and risk of birth defects.

Birth Defects Research

Padula, Amy M AM; Yang, Wei W; Schultz, Kathleen K; Lee, Cecilia C; Lurmann, Fred F; Hammond, S Katharine SK; Shaw, Gary M GM

Publication Date: 2021-05-15

Variant appearance in text: rs1902023

PubMed Link: 33569925

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Diversity of Drug-Related Genes in Native Americans of the Brazilian Amazon.

Pharmacogenomics And Personalized Medicine

Fernandes, Marianne Rodrigues MR; Rodrigues, Juliana Carla Gomes JCG; Maroñas, Olalla O; Latorre-Pellicer, Ana A; Cruz, Raquel R; Guerreiro, João Farias JF; Burbano, Rommel Mario Rodriguez RMR; de Assumpção, Paulo Pimentel PP; Ribeiro-Dos-Santos, Andrea A; Dos Santos, Sidney Emanuel Batista SEB; Carracedo, Angel A; Dos Santos, Ney Pereira Carneiro NPC

Publication Date: 2021

Variant appearance in text: rs1902023

PubMed Link: 33519226

Variant Present in the following documents:

• Main text
• pgpm-14-117.pdf

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: UGT2B15: 253T>G; Y85D; rs1902023

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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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: UGT2B15: Y85D; rs1902023

PubMed Link: 33424349

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: UGT2B15: 253T>G; Y85D; rs1902023

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Population pharmacokinetics and pharmacogenomics of tacrolimus in Chinese children receiving a liver transplant: initial dose recommendation.

Translational Pediatrics

Chen, Xiao X; Wang, Dong-Dong DD; Xu, Hong H; Li, Zhi-Ping ZP

Publication Date: 2020-10

Variant appearance in text: rs1902023

PubMed Link: 33209719

Variant Present in the following documents:

• Main text
• tp-09-05-576.pdf

View BVdb publication page

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Development and Analytical Validation of a 29 Gene Clinical Pharmacogenetic Genotyping Panel: Multi-Ethnic Allele and Copy Number Variant Detection.

Clinical And Translational Science

Scott, Stuart A SA; Scott, Erick R ER; Seki, Yoshinori Y; Chen, Annette J AJ; Wallsten, Richard R; Owusu Obeng, Aniwaa A; Botton, Mariana R MR; Cody, Neal N; Shi, Huanzhi H; Zhao, Geping G; Brake, Paul P; Nicoletti, Paola P; Yang, Yao Y; Delio, Maria M; Shi, Lisong L; Kornreich, Ruth R; Schadt, Eric E EE; Edelmann, Lisa L

Publication Date: 2021-01

Variant appearance in text: UGT2B15: 253T>G; rs1902023

PubMed Link: 32931151

Variant Present in the following documents:

• Main text
• CTS-14-204.pdf
• CTS-14-204-s001.xlsx, sheet 4
• CTS-14-204-s001.xlsx, sheet 1

View BVdb publication page

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The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.

Genomics, Proteomics & Bioinformatics

Sun, Jing J; Zhang, Yanfang Y; Wang, Minhui M; Guan, Qian Q; Yang, Xiujia X; Ou, Jin Xia JX; Yan, Mingchen M; Wang, Chengrui C; Zhang, Yan Y; Li, Zhi-Hao ZH; Lan, Chunhong C; Mao, Chen C; Zhou, Hong-Wei HW; Hao, Bingtao B; Zhang, Zhenhai Z

Publication Date: 2020-10

Variant appearance in text: UGT2B15: 253T>G; Tyr85Asp

PubMed Link: 32827758

Variant Present in the following documents:

• mmc12.xlsx, sheet 1

View BVdb publication page

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Bayesian Pathway Analysis for Complex Interactions.

American Journal Of Epidemiology

Baurley, James W JW; Kjærsgaard, Anders A; Zwick, Michael E ME; Cronin-Fenton, Deirdre P DP; Collin, Lindsay J LJ; Damkier, Per P; Hamilton-Dutoit, Stephen S; Lash, Timothy L TL; Ahern, Thomas P TP

Publication Date: 2020-12-01

Variant appearance in text: rs1902023

PubMed Link: 32639515

Variant Present in the following documents:

• Main text

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: rs1902023

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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Initial Dosage Recommendation for Sirolimus in Children With Tuberous Sclerosis Complex.

Frontiers In Pharmacology

Wang, Dong-Dong DD; Chen, Xiao X; Xu, Hong H; Li, Zhi-Ping ZP

Publication Date: 2020

Variant appearance in text: rs1902023

PubMed Link: 32595509

Variant Present in the following documents:

• Main text

View BVdb publication page

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Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)-Based Proteomics of Drug-Metabolizing Enzymes and Transporters.

Molecules (Basel, Switzerland)

Li, Jiapeng J; Zhu, Hao-Jie HJ

Publication Date: 2020-06-11

Variant appearance in text: rs1902023

PubMed Link: 32545386

Variant Present in the following documents:

• Main text
• molecules-25-02718.pdf

View BVdb publication page

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The Identification of Admixture Patterns Could Refine Pharmacogenetic Counseling: Analysis of a Population-Based Sample in Mexico.

Frontiers In Pharmacology

Martínez-Magaña, José Jaime JJ; Genis-Mendoza, Alma Delia AD; Villatoro Velázquez, Jorge Ameth JA; Camarena, Beatriz B; Martín Del Campo Sanchez, Raul R; Fleiz Bautista, Clara C; Bustos Gamiño, Marycarmen M; Reséndiz, Esbehidy E; Aguilar, Alejandro A; Medina-Mora, María Elena ME; Nicolini, Humberto H

Publication Date: 2020

Variant appearance in text: UGT2B15: Y85D; rs1902023

PubMed Link: 32390825

Variant Present in the following documents:

• Main text
• fphar-11-00324.pdf

View BVdb publication page

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs1902023

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

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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: UGT2B15: 253T>G; Tyr85Asp; rs1902023

PubMed Link: 32184647

Variant Present in the following documents:

• Main text

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The correlation between UDP-glucuronosyltransferase polymorphisms and environmental endocrine disruptors levels in polycystic ovary syndrome patients.

Medicine

Luo, Yunyao Y; Nie, Ying Y; Tang, Lu L; Xu, Charles C CC; Xu, Liangzhi L

Publication Date: 2020-03

Variant appearance in text: rs1902023

PubMed Link: 32176075

Variant Present in the following documents:

• Main text

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Heterogeneity in the distribution of 159 drug-response related SNPs in world populations and their genetic relatedness.

Plos One

Ahsan, Tamim T; Urmi, Nusrat Jahan NJ; Sajib, Abu Ashfaqur AA

Publication Date: 2020

Variant appearance in text: rs1902023

PubMed Link: 31971968

Variant Present in the following documents:

• Main text
• pone.0228000.pdf

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