Publications:

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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: rs1547014

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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Association between cognitive function and large optic nerve cupping, accounting for cup-disc-ratio genetic risk score.

Plos One

Kravets, Sasha S; Rupnow, Rawan Allozi RA; Sethi, Abhishek A; Espeland, Mark A MA; Pasquale, Louis R LR; Rapp, Stephen R SR; Klein, Barbara E BE; Meuer, Stacy M SM; Haan, Mary N MN; Maki, Pauline M PM; Hallak, Joelle A JA; Vajaranant, Thasarat Sutabutr TS

Publication Date: 2022

Variant appearance in text: rs1547014

PubMed Link: 36315511

Variant Present in the following documents:

• Main text
• pone.0258564.pdf

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Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Journal Of Cancer Research And Clinical Oncology

Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S

Publication Date: 2022-03-05

Variant appearance in text: rs1547014

PubMed Link: 35246724

Variant Present in the following documents:

• 432_2022_3944_MOESM1_ESM.xlsx, sheet 1

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The mutational load and a T-cell inflamed tumour phenotype identify ovarian cancer patients rendering tumour-reactive T cells from PD-1+ tumour-infiltrating lymphocytes.

British Journal Of Cancer

Salas-Benito, Diego D; Conde, Enrique E; Tamayo-Uria, Ibon I; Mancheño, Uxua U; Elizalde, Edurne E; Garcia-Ros, David D; Aramendia, Jose M JM; Muruzabal, Juan C JC; Alcaide, Julia J; Guillen-Grima, Francisco F; Minguez, Jose A JA; Amores-Tirado, Jose J; Gonzalez-Martin, Antonio A; Sarobe, Pablo P; Lasarte, Juan J JJ; Ponz-Sarvise, Mariano M; De Andrea, Carlos E CE; Hervas-Stubbs, Sandra S

Publication Date: 2021-03

Variant appearance in text: CHEK2: 847-1157A>G; rs1547014

PubMed Link: 33402737

Variant Present in the following documents:

• 41416_2020_1218_MOESM2_ESM.xlsx, sheet 1

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CHEK2 SNPs predict better prognosis in HBV-related hepatocellular carcinoma patients.

International Journal Of Clinical And Experimental Pathology

Wu, Hong H; Huang, Xin-Ping XP; Xiang, Run R; Wu, Man-Ya MY; Guo, Xing X; Li, Qiang Q; Luo, Xiao-Ling XL

Publication Date: 2018

Variant appearance in text: rs1547014

PubMed Link: 31938446

Variant Present in the following documents:

• Main text

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Genetic Risk Score Is Associated with Vertical Cup-to-Disc Ratio and Improves Prediction of Primary Open-Angle Glaucoma in Latinos.

Ophthalmology

Nannini, Drew R DR; Kim, Heejin H; Fan, Fangda F; Gao, Xiaoyi X

Publication Date: 2018-06

Variant appearance in text: rs1547014

PubMed Link: 29361357

Variant Present in the following documents:

• Main text

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Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits.

Genome Medicine

Grassmann, Felix F; Kiel, Christina C; Zimmermann, Martina E ME; Gorski, Mathias M; Grassmann, Veronika V; Stark, Klaus K; , ; Heid, Iris M IM; Weber, Bernhard H F BH

Publication Date: 2017-03-27

Variant appearance in text: rs1547014

PubMed Link: 28347358

Variant Present in the following documents:

• Main text

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A Genome-Wide Association Study of Vertical Cup-Disc Ratio in a Latino Population.

Investigative Ophthalmology & Visual Science

Nannini, Drew R DR; Torres, Mina M; Chen, Yii-Der I YI; Taylor, Kent D KD; Rotter, Jerome I JI; Varma, Rohit R; Gao, Xiaoyi X

Publication Date: 2017-01-01

Variant appearance in text: rs1547014

PubMed Link: 28061514

Variant Present in the following documents:

• i1552-5783-58-1-87.pdf

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Glaucoma Risk Alleles in the Ocular Hypertension Treatment Study.

Ophthalmology

Scheetz, Todd E TE; Faga, Ben B; Ortega, Lizette L; Roos, Ben R BR; Gordon, Mae O MO; Kass, Michael A MA; Wang, Kai K; Fingert, John H JH

Publication Date: 2016-12

Variant appearance in text: rs1547014

PubMed Link: 27707548

Variant Present in the following documents:

• Main text

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An Updated Review on the Genetics of Primary Open Angle Glaucoma.

International Journal Of Molecular Sciences

Abu-Amero, Khaled K; Kondkar, Altaf A AA; Chalam, Kakarla V KV

Publication Date: 2015-12-04

Variant appearance in text: rs1547014

PubMed Link: 26690118

Variant Present in the following documents:

• Main text
• ijms-16-26135.pdf

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Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.

Nature Communications

Springelkamp, Henriët H; Höhn, René R; Mishra, Aniket A; Hysi, Pirro G PG; Khor, Chiea-Chuen CC; Loomis, Stephanie J SJ; Bailey, Jessica N Cooke JN; Gibson, Jane J; Thorleifsson, Gudmar G; Janssen, Sarah F SF; Luo, Xiaoyan X; Ramdas, Wishal D WD; Vithana, Eranga E; Nongpiur, Monisha E ME; Montgomery, Grant W GW; Xu, Liang L; Mountain, Jenny E JE; Gharahkhani, Puya P; Lu, Yi Y; Amin, Najaf N; Karssen, Lennart C LC; Sim, Kar-Seng KS; van Leeuwen, Elisabeth M EM; Iglesias, Adriana I AI; Verhoeven, Virginie J M VJ; Hauser, Michael A MA; Loon, Seng-Chee SC; Despriet, Dominiek D G DD; Nag, Abhishek A; Venturini, Cristina C; Sanfilippo, Paul G PG; Schillert, Arne A; Kang, Jae H JH; Landers, John J; Jonasson, Fridbert F; Cree, Angela J AJ; van Koolwijk, Leonieke M E LM; Rivadeneira, Fernando F; Souzeau, Emmanuelle E; Jonsson, Vesteinn V; Menon, Geeta G; , ; Weinreb, Robert N RN; de Jong, Paulus T V M PT; Oostra, Ben A BA; Uitterlinden, André G AG; Hofman, Albert A; Ennis, Sarah S; Thorsteinsdottir, Unnur U; Burdon, Kathryn P KP; , ; , ; Spector, Timothy D TD; Mirshahi, Alireza A; Saw, Seang-Mei SM; Vingerling, Johannes R JR; Teo, Yik-Ying YY; Haines, Jonathan L JL; Wolfs, Roger C W RC; Lemij, Hans G HG; Tai, E-Shyong ES; Jansonius, Nomdo M NM; Jonas, Jost B JB; Cheng, Ching-Yu CY; Aung, Tin T; Viswanathan, Ananth C AC; Klaver, Caroline C W CC; Craig, Jamie E JE; Macgregor, Stuart S; Mackey, David A DA; Lotery, Andrew J AJ; Stefansson, Kari K; Bergen, Arthur A B AA; Young, Terri L TL; Wiggs, Janey L JL; Pfeiffer, Norbert N; Wong, Tien-Yin TY; Pasquale, Louis R LR; Hewitt, Alex W AW; van Duijn, Cornelia M CM; Hammond, Christopher J CJ

Publication Date: 2014-09-22

Variant appearance in text: rs1547014

PubMed Link: 25241763

Variant Present in the following documents:

• Main text
• ncomms5883.pdf
• ncomms5883-s1.pdf

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Genetic variants in DNA repair pathway genes and risk of esophageal squamous cell carcinoma and gastric adenocarcinoma in a Chinese population.

Carcinogenesis

Li, Wen-Qing WQ; Hu, Nan N; Hyland, Paula L PL; Gao, Ying Y; Wang, Zhao-Ming ZM; Yu, Kai K; Su, Hua H; Wang, Chao-Yu CY; Wang, Le-Min LM; Chanock, Stephen J SJ; Burdett, Laurie L; Ding, Ti T; Qiao, You-Lin YL; Fan, Jin-Hu JH; Wang, Yuan Y; Xu, Yi Y; Shi, Jian-Xin JX; Gu, Fangyi F; Wheeler, William W; Xiong, Xiao-Qin XQ; Giffen, Carol C; Tucker, Margaret A MA; Dawsey, Sanford M SM; Freedman, Neal D ND; Abnet, Christian C CC; Goldstein, Alisa M AM; Taylor, Philip R PR

Publication Date: 2013-07

Variant appearance in text: rs1547014

PubMed Link: 23504502

Variant Present in the following documents:

• Main text

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Identification, replication, and functional fine-mapping of expression quantitative trait loci in primary human liver tissue.

Plos Genetics

Innocenti, Federico F; Cooper, Gregory M GM; Stanaway, Ian B IB; Gamazon, Eric R ER; Smith, Joshua D JD; Mirkov, Snezana S; Ramirez, Jacqueline J; Liu, Wanqing W; Lin, Yvonne S YS; Moloney, Cliona C; Aldred, Shelly Force SF; Trinklein, Nathan D ND; Schuetz, Erin E; Nickerson, Deborah A DA; Thummel, Ken E KE; Rieder, Mark J MJ; Rettie, Allan E AE; Ratain, Mark J MJ; Cox, Nancy J NJ; Brown, Christopher D CD

Publication Date: 2011-05

Variant appearance in text: rs1547014

PubMed Link: 21637794

Variant Present in the following documents:

• Main text
• pgen.1002078.pdf

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A genome-wide association study of optic disc parameters.

Plos Genetics

Ramdas, Wishal D WD; van Koolwijk, Leonieke M E LM; Ikram, M Kamran MK; Jansonius, Nomdo M NM; de Jong, Paulus T V M PT; Bergen, Arthur A B AA; Isaacs, Aaron A; Amin, Najaf N; Aulchenko, Yurii S YS; Wolfs, Roger C W RC; Hofman, Albert A; Rivadeneira, Fernando F; Oostra, Ben A BA; Uitterlinden, Andre G AG; Hysi, Pirro P; Hammond, Christopher J CJ; Lemij, Hans G HG; Vingerling, Johannes R JR; Klaver, Caroline C W CC; van Duijn, Cornelia M CM

Publication Date: 2010-06-10

Variant appearance in text: rs1547014

PubMed Link: 20548946

Variant Present in the following documents:

• Main text
• pgen.1000978.pdf

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