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: N/A

PubMed Link: 36991000

Variant Present in the following documents:

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Impact of pharmacogenetics on aspirin resistance: a systematic review.

Arquivos De Neuro-Psiquiatria

Silva, Gustavo Figueiredo da GFD; Lopes, Bruno Mattei BM; Moser, Vinicius V; Ferreira, Leslie Ecker LE

Publication Date: 2023-01

Variant appearance in text: rs701265

PubMed Link: 36918009

Variant Present in the following documents:

• Main text
• 10-1055-s-0042-1758445.pdf

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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: rs701265

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: P2RY1: V262V

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2

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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: P2RY1: V262V

PubMed Link: 36075891

Variant Present in the following documents:

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

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Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease

Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD

Publication Date: 2022-06-29

Variant appearance in text: N/A

PubMed Link: 35768426

Variant Present in the following documents:

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Analysis of Very Important Pharmacogenomics Variants in the Chinese Lahu Population.

Pharmacogenomics And Personalized Medicine

Cheng, Yujing Y; Li, Qi Q; Yang, Xin X; Ding, Heng H; Chen, Wanlu W; Dai, Run R; Zhang, Chan C

Publication Date: 2021

Variant appearance in text: rs701265

PubMed Link: 34629888

Variant Present in the following documents:

• Main text
• pgpm-14-1275.pdf

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: N/A

PubMed Link: 33791233

Variant Present in the following documents:

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Analysis of Comprehensive Pharmacogenomic Profiling of VIP Variants Among the Genetically Isolated Chechen Subpopulation from Jordan.

Pharmacogenomics And Personalized Medicine

Al-Eitan, Laith N LN; Rababa'h, Doaa M DM; Hakooz, Nancy M NM; Alghamdi, Mansour A MA; Dajani, Rana B RB

Publication Date: 2020

Variant appearance in text: rs701265

PubMed Link: 32765042

Variant Present in the following documents:

• Main text
• pgpm-13-199.pdf

View BVdb publication page

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Genetic polymorphisms of pharmacogenomic VIP variants in the Dai population from Yunnan province.

Molecular Genetics & Genomic Medicine

Cheng, Yujing Y; Dai, Run R; Chen, Wanlu W; Li, Qi Q; Zhang, Chan C; Yang, Tonghua T

Publication Date: 2020-07

Variant appearance in text: rs701265

PubMed Link: 32347657

Variant Present in the following documents:

• Main text

View BVdb publication page

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Variants in clopidogrel-relevant genes and early neurological deterioration in ischemic stroke patients receiving clopidogrel.

Bmc Neurology

Yi, Xingyang X; Zhou, Qiang Q; Zhang, Yongyin Y; Zhou, Ju J; Lin, Jing J

Publication Date: 2020-04-28

Variant appearance in text: rs701265

PubMed Link: 32345264

Variant Present in the following documents:

• Main text
• 12883_2020_Article_1703.pdf

View BVdb publication page

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Genetic Polymorphisms of Pharmacogenes among the Genetically Isolated Circassian Subpopulation from Jordan.

Journal Of Personalized Medicine

Al-Eitan, Laith N LN; Rababa'h, Doaa M DM; Hakooz, Nancy M NM; Alghamdi, Mansour A MA; Dajani, Rana B RB

Publication Date: 2020-01-06

Variant appearance in text: rs701265

PubMed Link: 31935801

Variant Present in the following documents:

• Main text
• jpm-10-00002.pdf

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: N/A

PubMed Link: 31597922

Variant Present in the following documents:

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Genetic polymorphisms analysis of pharmacogenomic VIP variants in Bai ethnic group from China.

Molecular Genetics & Genomic Medicine

Chen, Wanlu W; Ding, Heng H; Cheng, Yujing Y; Li, Qi Q; Dai, Run R; Yang, Xin X; Zhang, Chan C

Publication Date: 2019-09

Variant appearance in text: rs701265

PubMed Link: 31361092

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic analysis of pharmacogenomic VIP variants in the Blang population from Yunnan Province of China.

Molecular Genetics & Genomic Medicine

Zhang, Chan C; Guo, Weiwei W; Cheng, Yujing Y; Li, Qi Q; Yang, Xin X; Dai, Run R; Zhu, Linhao L; Chen, Wanlu W

Publication Date: 2019-05

Variant appearance in text: N/A

PubMed Link: 30955239

Variant Present in the following documents:

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The TXA2R rs1131882, P2Y1 rs1371097 and GPIIIa rs2317676 three-loci interactions may increase the risk of carotid stenosis in patients with ischemic stroke.

Bmc Neurology

Yi, Xingyang X; Lin, Jing J; Zhou, Qiang Q; Huang, Ruyue R; Chai, Zhenxiao Z

Publication Date: 2019-03-26

Variant appearance in text: rs701265

PubMed Link: 30914039

Variant Present in the following documents:

• Main text
• 12883_2019_Article_1271.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: P2RY1: 786A>G; rs701265

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

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Genetic polymorphisms of pharmacogenomic VIP variants in the Lisu population of southwestern China: A cohort study.

Medicine

Li, Bin B; Wang, Li L; Lei, Lingyu L; Zhang, Mingxiang M; Niu, Fanglin F; Chen, Peng P; Jin, Tianbo T

Publication Date: 2018-09

Variant appearance in text: rs701265

PubMed Link: 30235667

Variant Present in the following documents:

• Main text
• medi-97-e12231.pdf

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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: rs701265

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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Interactions among variants in TXA2R, P2Y12 and GPIIIa are associated with carotid plaque vulnerability in Chinese population.

Oncotarget

Yi, Xingyang X; Lin, Jing J; Luo, Hua H; Zhou, Ju J; Zhou, Qiang Q; Wang, Yanfen Y; Wang, Chun C

Publication Date: 2018-04-03

Variant appearance in text: rs701265

PubMed Link: 29707133

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic polymorphisms in very important pharmacogenomic variants in the Zhuang ethnic group of Southwestern China: A cohort study in the Zhuang population.

Medicine

Li, Jing J; Guo, Chenghao C; Yan, Mengdan M; Niu, Fanglin F; Chen, Peng P; Li, Bin B; Jin, Tianbo T

Publication Date: 2018-04

Variant appearance in text: N/A

PubMed Link: 29703042

Variant Present in the following documents:

View BVdb publication page

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Population-Specific Associations of Deleterious Rare Variants in Coding Region of P2RY1-P2RY12 Purinergic Receptor Genes in Large-Vessel Ischemic Stroke Patients.

International Journal Of Molecular Sciences

Janicki, Piotr K PK; Eyileten, Ceren C; Ruiz-Velasco, Victor V; Sedeek, Khaled Anwar KA; Pordzik, Justyna J; Czlonkowska, Anna A; Kurkowska-Jastrzebska, Iwona I; Sugino, Shigekazu S; Imamura-Kawasawa, Yuka Y; Mirowska-Guzel, Dagmara D; Postula, Marek M

Publication Date: 2017-12-11

Variant appearance in text: rs701265

PubMed Link: 29232918

Variant Present in the following documents:

• Main text
• ijms-18-02678-s001.pdf
• ijms-18-02678.pdf

View BVdb publication page

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Interaction among CYP2C8, GPIIIa and P2Y12 variants increase susceptibility to ischemic stroke in Chinese population.

Oncotarget

Yi, Xingyang X; Lin, Jing J; Wang, Yanfen Y; Zhou, Ju J; Zhou, Qiang Q

Publication Date: 2017-09-19

Variant appearance in text: rs701265

PubMed Link: 29050321

Variant Present in the following documents:

• Main text
• oncotarget-08-70811.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: rs701265

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Interactions among COX-2, GPIIIa and P2Y1 variants are associated with aspirin responsiveness and adverse events in patients with ischemic stroke.

Therapeutic Advances In Neurological Disorders

Yi, Xingyang X; Han, Zhao Z; Zhou, Qiang Q; Lin, Jing J; Wang, Chun C

Publication Date: 2017-03

Variant appearance in text: rs701265

PubMed Link: 28344655

Variant Present in the following documents:

• Main text

View BVdb publication page

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Interaction among COX-2, P2Y1 and GPIIIa gene variants is associated with aspirin resistance and early neurological deterioration in Chinese stroke patients.

Bmc Neurology

Yi, Xingyang X; Wang, Chun C; Zhou, Qiang Q; Lin, Jing J

Publication Date: 2017-01-09

Variant appearance in text: rs701265

PubMed Link: 28068952

Variant Present in the following documents:

• Main text
• 12883_2016_Article_788.pdf

View BVdb publication page

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The global spectrum of protein-coding pharmacogenomic diversity.

The Pharmacogenomics Journal

Wright, G E B GEB; Carleton, B B; Hayden, M R MR; Ross, C J D CJD

Publication Date: 2018-01

Variant appearance in text: rs701265

PubMed Link: 27779249

Variant Present in the following documents:

• Main text
• tpj201677a.pdf

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Genetic polymorphisms of pharmacogenomic VIP variants in the Mongol of Northwestern China.

Bmc Genetics

Jin, Tianbo T; Shi, Xugang X; Wang, Li L; Wang, Huijuan H; Feng, Tian T; Kang, Longli L

Publication Date: 2016-05-28

Variant appearance in text: rs701265

PubMed Link: 27233804

Variant Present in the following documents:

• Main text
• 12863_2016_Article_379.pdf

View BVdb publication page

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Genetic polymorphisms of pharmacogenomic VIP variants in the lhoba population of southwest China.

International Journal Of Clinical And Experimental Pathology

He, Yongjun Y; Yang, Hua H; Geng, Tingting T; Feng, Tian T; Yuan, Dongya D; Kang, Longli L; Luo, Manling M; Jin, Tianbo T

Publication Date: 2015

Variant appearance in text: rs701265

PubMed Link: 26722533

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic polymorphisms of pharmacogenomic VIP variants in the Uygur population from northwestern China.

Bmc Genetics

Wang, Li L; Aikemu, Ainiwaer A; Yibulayin, Ayiguli A; Du, Shuli S; Geng, Tingting T; Wang, Bo B; Zhang, Yuan Y; Jin, Tianbo T; Yang, Jie J

Publication Date: 2015-06-20

Variant appearance in text: N/A

PubMed Link: 26091847

Variant Present in the following documents:

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: N/A

PubMed Link: 25944692

Variant Present in the following documents:

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: N/A

PubMed Link: 25390934

Variant Present in the following documents:

View BVdb publication page

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Heritability and molecular genetic basis of antisaccade eye tracking error rate: a genome-wide association study.

Psychophysiology

Vaidyanathan, Uma U; Malone, Stephen M SM; Donnelly, Jennifer M JM; Hammer, Micah A MA; Miller, Michael B MB; McGue, Matt M; Iacono, William G WG

Publication Date: 2014-12

Variant appearance in text: rs701265

PubMed Link: 25387707

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic determinants of on-aspirin platelet reactivity: focus on the influence of PEAR1.

Plos One

Würtz, Morten M; Nissen, Peter H PH; Grove, Erik Lerkevang EL; Kristensen, Steen Dalby SD; Hvas, Anne-Mette AM

Publication Date: 2014

Variant appearance in text: rs701265

PubMed Link: 25360888

Variant Present in the following documents:

• Main text
• pone.0111816.pdf

View BVdb publication page

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Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One

Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P

Publication Date: 2014

Variant appearance in text: N/A

PubMed Link: 25333361

Variant Present in the following documents:

View BVdb publication page

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Genetic polymorphisms of VIP variants in the Tajik ethnic group of northwest China.

Bmc Genetics

Zhang, Jiayi J; Jin, Tianbo T; Yunus, Zulfiya Z; Li, Xiaolan X; Geng, Tingting T; Wang, Hong H; Cui, Yali Y; Chen, Chao C

Publication Date: 2014-09-30

Variant appearance in text: rs701265

PubMed Link: 25266489

Variant Present in the following documents:

• Main text

View BVdb publication page

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Screening for 392 polymorphisms in 141 pharmacogenes.

Biomedical Reports

Kim, Jason Yongha JY; Cheong, Hyun Sub HS; Park, Tae-Joon TJ; Shin, Hee Jung HJ; Seo, Doo Won DW; Na, Han Sung HS; Chung, Myeon Woo MW; Shin, Hyoung Doo HD

Publication Date: 2014-07

Variant appearance in text: rs701265

PubMed Link: 24944790

Variant Present in the following documents:

• Main text

View BVdb publication page

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Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: N/A

PubMed Link: 24219164

Variant Present in the following documents:

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P2RY1 and P2RY12 polymorphisms and on-aspirin platelet reactivity in patients with coronary artery disease.

International Journal Of Laboratory Hematology

Timur, A A AA; Murugesan, G G; Zhang, L L; Aung, P P PP; Barnard, J J; Wang, Q K QK; Gaussem, P P; Silverstein, R L RL; Bhatt, D L DL; Kottke-Marchant, K K

Publication Date: 2012-10

Variant appearance in text: rs701265

PubMed Link: 22574824

Variant Present in the following documents:

• Main text

View BVdb publication page

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