Publications:

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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: rs1058932

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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Genetic variations in relation to bleeding and pharmacodynamics of dabigatran in Chinese patients with nonvalvular atrial fibrillation: A nationwide multicentre prospective cohort study.

Clinical And Translational Medicine

Xiang, Qian Q; Xie, Qiufen Q; Liu, Zhiyan Z; Mu, Guangyan G; Zhang, Hanxu H; Zhou, Shuang S; Wang, Zhe Z; Wang, Zining Z; Zhang, Yatong Y; Zhao, Zinan Z; Yuan, Dongdong D; Guo, Liping L; Wang, Na N; Xiang, Jing J; Song, Hongtao H; Sun, Jianjun J; Jiang, Jie J; Cui, Yimin Y

Publication Date: 2022-12

Variant appearance in text: rs1058932

PubMed Link: 36453946

Variant Present in the following documents:

• Main text

View BVdb publication page

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JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research

Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K

Publication Date: 2022-11-21

Variant appearance in text: rs1058932

PubMed Link: 36409824

Variant Present in the following documents:

• can-22-0423_supplementary_table_s3_suppst3.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: rs1058932

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

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: rs1058932

PubMed Link: 36075891

Variant Present in the following documents:

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

View BVdb publication page

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Pharmacogenetics of taxane-induced neurotoxicity in breast cancer: Systematic review and meta-analysis.

Clinical And Translational Science

Guijosa, Alberto A; Freyria, Ana A; Espinosa-Fernandez, Jose Rodrigo JR; Estrada-Mena, Francisco J FJ; Armenta-Quiroga, Ana Sofía AS; Ortega-Treviño, Maria Fernanda MF; Catalán, Rodrigo R; Antonio-Aguirre, Bani B; Villarreal-Garza, Cynthia C; Perez-Ortiz, Andric C AC

Publication Date: 2022-10

Variant appearance in text: rs1058932

PubMed Link: 35892315

Variant Present in the following documents:

• Main text
• CTS-15-2403.pdf

View BVdb publication page

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Relationship of cytochrome P450 gene polymorphisms with blood concentrations of hydroxychloroquine and its metabolites and adverse drug reactions.

Bmc Medical Genomics

Gao, Beibei B; Tan, Tingfei T; Cao, Xi X; Pan, Menglu M; Yang, Chunlan C; Wang, Jianxiong J; Shuai, Zongwen Z; Xia, Quan Q

Publication Date: 2022-02-08

Variant appearance in text: rs1058932

PubMed Link: 35135554

Variant Present in the following documents:

• Main text
• 12920_2022_Article_1171.pdf

View BVdb publication page

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Relationship of cytochrome P450 gene polymorphisms with blood concentrations of hydroxychloroquine and its metabolites and adverse drug reactions.

Bmc Medical Genomics

Gao, Beibei B; Tan, Tingfei T; Cao, Xi X; Pan, Menglu M; Yang, Chunlan C; Wang, Jianxiong J; Shuai, Zongwen Z; Xia, Quan Q

Publication Date: 2022-02-08

Variant appearance in text: rs1058932

PubMed Link: 35135554

Variant Present in the following documents:

• Main text
• 12920_2022_Article_1171.pdf

View BVdb publication page

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: rs1058932

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

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: rs1058932

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1

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: rs1058932

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1
• Table_6.xlsx, sheet 1

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: rs1058932

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.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: rs1058932

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 3
• MGG3-6-739-s002.xlsx, sheet 7
• MGG3-6-739-s002.xlsx, sheet 6

View BVdb publication page

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Pharmacogenetic Variation in Over 100 Genes in Patients Receiving Acenocumarol.

Frontiers In Pharmacology

Gonzalez-Covarrubias, Vanessa V; Urena-Carrion, Javier J; Villegas-Torres, Beatriz B; Cossío-Aranda, J Eduardo JE; Trevethan-Cravioto, Sergio S; Izaguirre-Avila, Raul R; Fiscal-López, O Javier OJ; Soberon, Xavier X

Publication Date: 2017

Variant appearance in text: rs1058932

PubMed Link: 29218011

Variant Present in the following documents:

• Main text
• fphar-08-00863.pdf

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs1058932

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Evaluation of Oxidative Stress Response Related Genetic Variants, Pro-oxidants, Antioxidants and Prostate Cancer.

Aims Medical Science

Lavender, Nicole N; Hein, David W DW; Brock, Guy G; Kidd, La Creis R CR

Publication Date: 2015

Variant appearance in text: rs1058932

PubMed Link: 26636131

Variant Present in the following documents:

• Main text
• NIHMS724455-supplement-01.pdf
• nihms724455.pdf

View BVdb publication page

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: rs1058932

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

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: rs1058932

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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CYP3A4*22 genotype and systemic exposure affect paclitaxel-induced neurotoxicity.

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

de Graan, Anne-Joy M AJ; Elens, Laure L; Sprowl, Jason A JA; Sparreboom, Alex A; Friberg, Lena E LE; van der Holt, Bronno B; de Raaf, Pleun J PJ; de Bruijn, Peter P; Engels, Frederike K FK; Eskens, Ferry A L M FA; Wiemer, Erik A C EA; Verweij, Jaap J; Mathijssen, Ron H J RH; van Schaik, Ron H N RH

Publication Date: 2013-06-15

Variant appearance in text: rs1058932

PubMed Link: 23640974

Variant Present in the following documents:

• Main text

View BVdb publication page

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Interactions between urinary 4-tert-octylphenol levels and metabolism enzyme gene variants on idiopathic male infertility.

Plos One

Qin, Yufeng Y; Chen, Minjian M; Wu, Wei W; Xu, Bin B; Tang, Rong R; Chen, Xiaojiao X; Du, Guizhen G; Lu, Chuncheng C; Meeker, John D JD; Zhou, Zuomin Z; Xia, Yankai Y; Wang, Xinru X

Publication Date: 2013

Variant appearance in text: rs1058932

PubMed Link: 23555028

Variant Present in the following documents:

• Main text
• pone.0059398.pdf

View BVdb publication page

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Intake of red meat and heterocyclic amines, metabolic pathway genes and bladder cancer risk.

International Journal Of Cancer

Lin, Jie J; Forman, Michele R MR; Wang, Jianming J; Grossman, H Barton HB; Chen, Meng M; Dinney, Colin P CP; Hawk, Ernest T ET; Wu, Xifeng X

Publication Date: 2012-10-15

Variant appearance in text: rs1058932

PubMed Link: 22261697

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genotyping panel for assessing response to cancer chemotherapy.

Bmc Medical Genomics

Dai, Zunyan Z; Papp, Audrey C AC; Wang, Danxin D; Hampel, Heather H; Sadee, Wolfgang W

Publication Date: 2008-06-11

Variant appearance in text: rs1058932

PubMed Link: 18547414

Variant Present in the following documents:

• 1755-8794-1-24-S1.xls, sheet 1

View BVdb publication page

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Association of warfarin dose with genes involved in its action and metabolism.

Human Genetics

Wadelius, Mia M; Chen, Leslie Y LY; Eriksson, Niclas N; Bumpstead, Suzannah S; Ghori, Jilur J; Wadelius, Claes C; Bentley, David D; McGinnis, Ralph R; Deloukas, Panos P

Publication Date: 2007-03

Variant appearance in text: rs1058932

PubMed Link: 17048007

Variant Present in the following documents:

• Main text
• 439_2006_Article_260.pdf

View BVdb publication page

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