Publications:

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Association of variations in the CAT and prognosis in lung cancer patients with platinum-based chemotherapy.

Frontiers In Pharmacology

Liu, Jia-Si JS; Liu, Jun-Yan JY; Xiao, Qi Q; Li, Xiang-Ping XP; Chen, Juan J; Liu, Zhao-Qian ZQ

Publication Date: 2023

Variant appearance in text: rs4585

PubMed Link: 36969849

Variant Present in the following documents:

• Main text
• fphar-14-1119837.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: rs4585

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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PLK2 Single Nucleotide Variant in Gastric Cancer Patients Affects miR-23b-5p Binding.

Journal Of Gastric Cancer

Dominkuš, Pia Pužar PP; Mesic, Aner A; Hudler, Petra P

Publication Date: 2022-10

Variant appearance in text: rs4585

PubMed Link: 36316110

Variant Present in the following documents:

• jgc-22-348.pdf

View BVdb publication page

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Case Report: Primary Leptomeningeal Medulloblastoma in a Child: Clinical Case Report and Literature Review.

Frontiers In Pediatrics

Morgacheva, Daria D; Daks, Alexandra A; Smirnova, Anna A; Kim, Aleksandr A; Ryzhkova, Daria D; Mitrofanova, Lubov L; Staliarova, Alena A; Omelina, Evgeniya E; Pindyurin, Alexey A; Fedorova, Olga O; Shuvalov, Oleg O; Petukhov, Alexey A; Dinikina, Yulia Y

Publication Date: 2022

Variant appearance in text: rs4585

PubMed Link: 35899134

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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Association study of candidate DNA-repair gene variants and acute graft versus host disease in pediatric patients receiving allogeneic hematopoietic stem-cell transplantation.

The Pharmacogenomics Journal

Uppugunduri, C R S CRS; Huezo-Diaz Curtis, P P; Nava, T T; Rezgui, M A MA; Mlakar, V V; Mlakar, S Jurkovic SJ; Waespe, N N; Théoret, Y Y; Gumy-Pause, F F; Bernard, F F; Chalandon, Y Y; Boelens, J J JJ; Bredius, R G M RGM; Dalle, J H JH; Nath, C C; Corbacioglu, S S; Peters, C C; Bader, P P; Shaw, P P; Bittencourt, H H; Krajinovic, M M; Ansari, M M

Publication Date: 2022-02

Variant appearance in text: rs4585

PubMed Link: 34711928

Variant Present in the following documents:

• Main text
• 41397_2021_Article_251.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: rs4585

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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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: rs4585

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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MicroRNA-binding site polymorphisms and risk of colorectal cancer: A systematic review and meta-analysis.

Cancer Medicine

Gholami, Morteza M; Larijani, Bagher B; Sharifi, Farshad F; Hasani-Ranjbar, Shirin S; Taslimi, Reza R; Bastami, Milad M; Atlasi, Rasha R; Amoli, Mahsa M MM

Publication Date: 2019-12

Variant appearance in text: rs4585

PubMed Link: 31637880

Variant Present in the following documents:

• Main text
• CAM4-8-7477.pdf

View BVdb publication page

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Personal Genome Project UK (PGP-UK): a research and citizen science hybrid project in support of personalized medicine.

Bmc Medical Genomics

,

Publication Date: 2018-11-27

Variant appearance in text: rs4585

PubMed Link: 30482208

Variant Present in the following documents:

• 12920_2018_423_MOESM1_ESM.pdf

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: rs4585

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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Genetic Variants Associated with Clinicopathological Profiles in Sporadic Breast Cancer in Sri Lankan Women.

Journal Of Breast Cancer

Sirisena, Nirmala Dushyanthi ND; Adeyemo, Adebowale A; Kuruppu, Anchala Ishani AI; Samaranayake, Nilakshi N; Dissanayake, Vajira Harshadeva Weerabaddana VHW

Publication Date: 2018-06

Variant appearance in text: rs4585

PubMed Link: 29963112

Variant Present in the following documents:

• Main text
• jbc-21-165.pdf

View BVdb publication page

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: rs4585

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 1
• oncotarget-08-95841-s002.xlsx, sheet 4

View BVdb publication page

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MiR-2964a-5p binding site SNP regulates ATM expression contributing to age-related cataract risk.

Oncotarget

Rong, Han H; Gu, Shanshan S; Zhang, Guowei G; Kang, Lihua L; Yang, Mei M; Zhang, Junfang J; Shen, Xinyue X; Guan, Huaijin H

Publication Date: 2017-10-17

Variant appearance in text: rs4585

PubMed Link: 29156695

Variant Present in the following documents:

• Main text
• oncotarget-08-84945.pdf

View BVdb publication page

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Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: rs4585

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

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Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer

Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F

Publication Date: 2017-05-12

Variant appearance in text: rs4585

PubMed Link: 28499365

Variant Present in the following documents:

• 12885_2017_3314_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Physicians Poster SessionsPoster Session / Day 1.

Bone Marrow Transplantation

Publication Date: 2016-03

Variant appearance in text: rs4585

PubMed Link: 26999538

Variant Present in the following documents:

• 41409_2016_Article_BFbmt201648.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: rs4585

PubMed Link: 25944692

Variant Present in the following documents:

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

View BVdb publication page

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Genetic variation in DNA repair pathways and risk of non-Hodgkin's lymphoma.

Plos One

Rendleman, Justin J; Antipin, Yevgeniy Y; Reva, Boris B; Adaniel, Christina C; Przybylo, Jennifer A JA; Dutra-Clarke, Ana A; Hansen, Nichole N; Heguy, Adriana A; Huberman, Kety K; Borsu, Laetitia L; Paltiel, Ora O; Ben-Yehuda, Dina D; Brown, Jennifer R JR; Freedman, Arnold S AS; Sander, Chris C; Zelenetz, Andrew A; Klein, Robert J RJ; Shao, Yongzhao Y; Lacher, Mortimer M; Vijai, Joseph J; Offit, Kenneth K; Kirchhoff, Tomas T

Publication Date: 2014

Variant appearance in text: rs4585

PubMed Link: 25010664

Variant Present in the following documents:

• Main text
• pone.0101685.pdf

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: rs4585

PubMed Link: 24944790

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sequencing and analysis of a South Asian-Indian personal genome.

Bmc Genomics

Gupta, Ravi R; Ratan, Aakrosh A; Rajesh, Changanamkandath C; Chen, Rong R; Kim, Hie Lim HL; Burhans, Richard R; Miller, Webb W; Santhosh, Sam S; Davuluri, Ramana V RV; Butte, Atul J AJ; Schuster, Stephan C SC; Seshagiri, Somasekar S; Thomas, George G

Publication Date: 2012-08-31

Variant appearance in text: rs4585

PubMed Link: 22938532

Variant Present in the following documents:

• Main text
• 1471-2164-13-440.pdf

View BVdb publication page

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Current State and Future Prospects of Direct-to-Consumer Pharmacogenetics.

Frontiers In Pharmacology

Chua, E W EW; Kennedy, M A MA

Publication Date: 2012

Variant appearance in text: rs4585

PubMed Link: 22934000

Variant Present in the following documents:

• Main text

View BVdb publication page

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Computational refinement of functional single nucleotide polymorphisms associated with ATM gene.

Plos One

George Priya Doss, C C; Rajith, B B

Publication Date: 2012

Variant appearance in text: rs4585

PubMed Link: 22529920

Variant Present in the following documents:

• Main text
• pone.0034573.pdf

View BVdb publication page

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Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes.

Nature Genetics

, ; , ; Zhou, Kaixin K; Bellenguez, Celine C; Spencer, Chris C A CC; Bennett, Amanda J AJ; Coleman, Ruth L RL; Tavendale, Roger R; Hawley, Simon A SA; Donnelly, Louise A LA; Schofield, Chris C; Groves, Christopher J CJ; Burch, Lindsay L; Carr, Fiona F; Strange, Amy A; Freeman, Colin C; Blackwell, Jenefer M JM; Bramon, Elvira E; Brown, Matthew A MA; Casas, Juan P JP; Corvin, Aiden A; Craddock, Nicholas N; Deloukas, Panos P; Dronov, Serge S; Duncanson, Audrey A; Edkins, Sarah S; Gray, Emma E; Hunt, Sarah S; Jankowski, Janusz J; Langford, Cordelia C; Markus, Hugh S HS; Mathew, Christopher G CG; Plomin, Robert R; Rautanen, Anna A; Sawcer, Stephen J SJ; Samani, Nilesh J NJ; Trembath, Richard R; Viswanathan, Ananth C AC; Wood, Nicholas W NW; , ; Harries, Lorna W LW; Hattersley, Andrew T AT; Doney, Alex S F AS; Colhoun, Helen H; Morris, Andrew D AD; Sutherland, Calum C; Hardie, D Grahame DG; Peltonen, Leena L; McCarthy, Mark I MI; Holman, Rury R RR; Palmer, Colin N A CN; Donnelly, Peter P; Pearson, Ewan R ER

Publication Date: 2011-02

Variant appearance in text: rs4585

PubMed Link: 21186350

Variant Present in the following documents:

• Main text
• NIHMS33681-supplement-1.pdf
• ukmss-33681.pdf

View BVdb publication page

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ATM sequence variants associate with susceptibility to non-small cell lung cancer.

International Journal Of Cancer

Yang, Hushan H; Spitz, Margaret R MR; Stewart, David J DJ; Lu, Charles C; Gorlov, Ivan P IP; Wu, Xifeng X

Publication Date: 2007-11-15

Variant appearance in text: rs4585

PubMed Link: 17582598

Variant Present in the following documents:

• Main text

View BVdb publication page

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