Publications:

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Editorial: Pharmacogenomics and ethnicity: Prevalence and clinical significance of pharmacogenomic biomarkers in indigenous and other populations.

Frontiers In Pharmacology

Patrinos, George P GP; Quinones, Luis Abel LA; Sukasem, Chonlaphat C

Publication Date: 2023

Variant appearance in text: rs1061235

PubMed Link: 37063283

Variant Present in the following documents:

• Main text
• fphar-14-1180487.pdf

View BVdb publication page

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Genome-wide identification of RNA modification-related single nucleotide polymorphisms associated with rheumatoid arthritis.

Bmc Genomics

Wang, Mimi M; Wu, Jingyun J; Lei, Shufeng S; Mo, Xingbo X

Publication Date: 2023-03-27

Variant appearance in text: rs1061235

PubMed Link: 36973646

Variant Present in the following documents:

• Main text
• 12864_2023_Article_9227.pdf

View BVdb publication page

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Integrative proteomic characterization of adenocarcinoma of esophagogastric junction.

Nature Communications

Li, Shengli S; Yuan, Li L; Xu, Zhi-Yuan ZY; Xu, Jing-Li JL; Chen, Gui-Ping GP; Guan, Xiaoqing X; Pan, Guang-Zhao GZ; Hu, Can C; Dong, Jinyun J; Du, Yi-An YA; Yang, Li-Tao LT; Ni, Mao-Wei MW; Jiang, Rui-Bin RB; Zhu, Xiu X; Lv, Hang H; Xu, Han-Dong HD; Zhang, Sheng-Jie SJ; Qin, Jiang-Jiang JJ; Cheng, Xiang-Dong XD

Publication Date: 2023-02-11

Variant appearance in text: rs1061235

PubMed Link: 36774361

Variant Present in the following documents:

• 41467_2023_36462_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Prevalence of exposure to pharmacogenetic drugs by the Saudis treated at the health care centers of the Ministry of National Guard.

Saudi Pharmaceutical Journal : Spj : The Official Publication Of The Saudi Pharmaceutical Society

Alshabeeb, Mohammad A MA; Alyabsi, Mesnad M; Paras, Bien B

Publication Date: 2022-08

Variant appearance in text: rs1061235

PubMed Link: 36164570

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Single Nucleotide Variants as Proxies for HLA-A*31:01 in Native American Populations.

Frontiers In Pharmacology

Fernandes, Vanessa Câmara VC; Pretti, Marco Antônio M MAM; Tsuneto, Luiza Tamie LT; Petzl-Erler, Maria Luiza ML; Suarez-Kurtz, Guilherme G

Publication Date: 2022

Variant appearance in text: rs1061235

PubMed Link: 35496269

Variant Present in the following documents:

• Main text
• fphar-13-849136.pdf

View BVdb publication page

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MHC Variants Associated With Symptomatic Versus Asymptomatic SARS-CoV-2 Infection in Highly Exposed Individuals.

Frontiers In Immunology

Castelli, Erick C EC; de Castro, Mateus V MV; Naslavsky, Michel S MS; Scliar, Marilia O MO; Silva, Nayane S B NSB; Andrade, Heloisa S HS; Souza, Andreia S AS; Pereira, Raphaela N RN; Castro, Camila F B CFB; Mendes-Junior, Celso T CT; Meyer, Diogo D; Nunes, Kelly K; Matos, Larissa R B LRB; Silva, Monize V R MVR; Wang, Jaqueline Y T JYT; Esposito, Joyce J; Coria, Vivian R VR; Bortolin, Raul H RH; Hirata, Mario H MH; Magawa, Jhosiene Y JY; Cunha-Neto, Edecio E; Coelho, Verônica V; Santos, Keity S KS; Marin, Maria Lucia C MLC; Kalil, Jorge J; Mitne-Neto, Miguel M; Maciel, Rui M B RMB; Passos-Bueno, Maria Rita MR; Zatz, Mayana M

Publication Date: 2021

Variant appearance in text: rs1061235

PubMed Link: 34650566

Variant Present in the following documents:

• Table_3.xlsx, sheet 1
• Table_3.xlsx, sheet 3
• Table_3.xlsx, sheet 2
• Table_3.xlsx, sheet 4
• Table_3.xlsx, sheet 5

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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: rs1061235

PubMed Link: 34501219

Variant Present in the following documents:

• Main text
• jcm-10-03772.pdf

View BVdb publication page

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Validation of Single Nucleotide Variant Assays for Human Leukocyte Antigen Haplotypes HLA-B*15:02 and HLA-A*31:01 Across Diverse Ancestral Backgrounds.

Frontiers In Pharmacology

Buchner, Amanda A; Hu, Xiuying X; Aitchison, Katherine J KJ

Publication Date: 2021

Variant appearance in text: rs1061235

PubMed Link: 34381365

Variant Present in the following documents:

• Main text
• fphar-12-713178.pdf

View BVdb publication page

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Strategies to Improve the Clinical Outcomes for Direct-to-Consumer Pharmacogenomic Tests.

Genes

Tafazoli, Alireza A; Guggilla, Rama Krishna RK; Kamel-Koleti, Zahra Z; Miltyk, Wojciech W

Publication Date: 2021-03-03

Variant appearance in text: rs1061235

PubMed Link: 33802585

Variant Present in the following documents:

• Main text
• genes-12-00361.pdf

View BVdb publication page

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Technologies for Pharmacogenomics: A Review.

Genes

van der Lee, Maaike M; Kriek, Marjolein M; Guchelaar, Henk-Jan HJ; Swen, Jesse J JJ

Publication Date: 2020-12-04

Variant appearance in text: rs1061235

PubMed Link: 33291630

Variant Present in the following documents:

• Main text
• genes-11-01456.pdf

View BVdb publication page

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Use of Pharmacogenetic Drugs by the Dutch Population.

Frontiers In Genetics

Alshabeeb, Mohammad A MA; Deneer, Vera H M VHM; Khan, Amjad A; Asselbergs, Folkert W FW

Publication Date: 2019

Variant appearance in text: rs1061235

PubMed Link: 31312209

Variant Present in the following documents:

• Main text

View BVdb publication page

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Developing pharmacogenetic screening methods for an emergent country: Vietnam.

The World Allergy Organization Journal

Nguyen, Dinh Van DV; Vidal, Christopher C; Chu, Hieu Chi HC; van Nunen, Sheryl S

Publication Date: 2019

Variant appearance in text: rs1061235

PubMed Link: 31198488

Variant Present in the following documents:

• Main text
• main.pdf

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: rs1061235

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_5.xlsx, sheet 1

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: rs1061235

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 6

View BVdb publication page

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Clinical Implementation of Pharmacogenetic Decision Support Tools for Antidepressant Drug Prescribing.

The American Journal Of Psychiatry

Zeier, Zane Z; Carpenter, Linda L LL; Kalin, Ned H NH; Rodriguez, Carolyn I CI; McDonald, William M WM; Widge, Alik S AS; Nemeroff, Charles B CB

Publication Date: 2018-09-01

Variant appearance in text: rs1061235

PubMed Link: 29690793

Variant Present in the following documents:

• Main text

View BVdb publication page

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The utility of pharmacogenetic testing to support the treatment of bipolar disorder.

Pharmacogenomics And Personalized Medicine

Ielmini, Marta M; Poloni, Nicola N; Caselli, Ivano I; Espadaler, Jordi J; Tuson, Miquel M; Grecchi, Alessandro A; Callegari, Camilla C

Publication Date: 2018

Variant appearance in text: rs1061235

PubMed Link: 29588611

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study.

Npj Genomic Medicine

Cohn, Iris I; Paton, Tara A TA; Marshall, Christian R CR; Basran, Raveen R; Stavropoulos, Dimitri J DJ; Ray, Peter N PN; Monfared, Nasim N; Hayeems, Robin Z RZ; Meyn, M Stephen MS; Bowdin, Sarah S; Scherer, Stephen W SW; Cohn, Ronald D RD; Ito, Shinya S

Publication Date: 2017

Variant appearance in text: rs1061235

PubMed Link: 29263831

Variant Present in the following documents:

• Main text
• 41525_2017_Article_21.pdf

View BVdb publication page

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A web resource for mining HLA associations with adverse drug reactions: HLA-ADR.

Database : The Journal Of Biological Databases And Curation

Ghattaoraya, Gurpreet S GS; Dundar, Yenal Y; González-Galarza, Faviel F FF; Maia, Maria Helena Thomaz MH; Santos, Eduardo José Melo EJ; da Silva, Andréa Luciana Soares AL; McCabe, Antony A; Middleton, Derek D; Alfirevic, Ana A; Dickson, Rumona R; Jones, Andrew R AR

Publication Date: 2016

Variant appearance in text: rs1061235

PubMed Link: 27189608

Variant Present in the following documents:

• Main text
• baw069.pdf

View BVdb publication page

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Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio

Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M

Publication Date: 2014

Variant appearance in text: rs1061235

PubMed Link: 24490137

Variant Present in the following documents:

• mmc5.xlsx, sheet 2

View BVdb publication page

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HLA-A 31:01 and HLA-B 15:02 as genetic markers for carbamazepine hypersensitivity in children.

Clinical Pharmacology And Therapeutics

Amstutz, U U; Ross, C J D CJ; Castro-Pastrana, L I LI; Rieder, M J MJ; Shear, N H NH; Hayden, M R MR; Carleton, B C BC; ,

Publication Date: 2013-07

Variant appearance in text: rs1061235

PubMed Link: 23588310

Variant Present in the following documents:

• Main text
• nihms3420.pdf

View BVdb publication page

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Rare genetic variants and treatment response: sample size and analysis issues.

Statistics In Medicine

Witte, John S JS

Publication Date: 2012-11-10

Variant appearance in text: rs1061235

PubMed Link: 22736504

Variant Present in the following documents:

• Main text

View BVdb publication page

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PharmGKB summary: carbamazepine pathway.

Pharmacogenetics And Genomics

Thorn, Caroline F CF; Leckband, Susan G SG; Kelsoe, John J; Leeder, J Steven JS; Müller, Daniel J DJ; Klein, Teri E TE; Altman, Russ B RB

Publication Date: 2011-12

Variant appearance in text: rs1061235

PubMed Link: 21738081

Variant Present in the following documents:

• Main text

View BVdb publication page

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HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans.

The New England Journal Of Medicine

McCormack, Mark M; Alfirevic, Ana A; Bourgeois, Stephane S; Farrell, John J JJ; Kasperavičiūtė, Dalia D; Carrington, Mary M; Sills, Graeme J GJ; Marson, Tony T; Jia, Xiaoming X; de Bakker, Paul I W PI; Chinthapalli, Krishna K; Molokhia, Mariam M; Johnson, Michael R MR; O'Connor, Gerard D GD; Chaila, Elijah E; Alhusaini, Saud S; Shianna, Kevin V KV; Radtke, Rodney A RA; Heinzen, Erin L EL; Walley, Nicole N; Pandolfo, Massimo M; Pichler, Werner W; Park, B Kevin BK; Depondt, Chantal C; Sisodiya, Sanjay M SM; Goldstein, David B DB; Deloukas, Panos P; Delanty, Norman N; Cavalleri, Gianpiero L GL; Pirmohamed, Munir M

Publication Date: 2011-03-24

Variant appearance in text: rs1061235

PubMed Link: 21428769

Variant Present in the following documents:

• Main text

View BVdb publication page

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