Publications:

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Intravesical BCG in patients with non-muscle invasive bladder cancer induces trained immunity and decreases respiratory infections.

Journal For Immunotherapy Of Cancer

van Puffelen, Jelmer H JH; Novakovic, Boris B; van Emst, Liesbeth L; Kooper, Denise D; Zuiverloon, Tahlita C M TCM; Oldenhof, Ursula T H UTH; Witjes, J Alfred JA; Galesloot, Tessel E TE; Vrieling, Alina A; Aben, Katja K H KKH; Kiemeney, Lambertus A L M LALM; Oosterwijk, Egbert E; Netea, Mihai G MG; Boormans, Joost L JL; van der Heijden, Antoine G AG; Joosten, Leo A B LAB; Vermeulen, Sita H SH

Publication Date: 2023-01

Variant appearance in text: rs3792109

PubMed Link: 36693678

Variant Present in the following documents:

• Main text
• jitc-2022-005518.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: rs3792109

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Identification of Novel Loci Shared by Juvenile Idiopathic Arthritis Subtypes Through Integrative Genetic Analysis.

Arthritis & Rheumatology (Hoboken, N.J.)

Li, Jin J; Li, Yun R YR; Glessner, Joseph T JT; Yang, Jie J; March, Michael E ME; Kao, Charlly C; Vaccaro, Courtney N CN; Bradfield, Jonathan P JP; Li, Junyi J; Mentch, Frank D FD; Qu, Hui-Qi HQ; Qi, Xiaohui X; Chang, Xiao X; Hou, Cuiping C; Abrams, Debra J DJ; Qiu, Haijun H; Wei, Zhi Z; Connolly, John J JJ; Wang, Fengxiang F; Snyder, James J; Flatø, Berit B; Thompson, Susan D SD; Langefeld, Carl D CD; Lie, Benedicte A BA; Munro, Jane E JE; Wise, Carol C; Sleiman, Patrick M A PMA; Hakonarson, Hakon H

Publication Date: 2022-08

Variant appearance in text: rs3792109

PubMed Link: 35347896

Variant Present in the following documents:

• ART-74-1420-s005.pdf

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: rs3792109

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Highly diversified core promoters in the human genome and their effects on gene expression and disease predisposition.

Bmc Genomics

Gupta, Hemant H; Chandratre, Khyati K; Sinha, Siddharth S; Huang, Teng T; Wu, Xiaobing X; Cui, Jian J; Zhang, Michael Q MQ; Wang, San Ming SM

Publication Date: 2020-11-30

Variant appearance in text: rs3792109

PubMed Link: 33256598

Variant Present in the following documents:

• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 26
• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 3
• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: rs3792109

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs3792109

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_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: ATG16L1: 954+993G>A; rs3792109

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1

View BVdb publication page

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Association of Genetic Variants of Small Non-Coding RNAs with Survival in Colorectal Cancer.

International Journal Of Medical Sciences

Pao, Jiunn-Bey JB; Lu, Te-Ling TL; Ting, Wen-Chien WC; Chen, Lu-Min LM; Bao, Bo-Ying BY

Publication Date: 2018

Variant appearance in text: rs3792109

PubMed Link: 29483812

Variant Present in the following documents:

• Main text
• ijmsv15p0217.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: rs3792109

PubMed Link: 29221171

Variant Present in the following documents:

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

View BVdb publication page

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Association of ATG16L1 gene haplotype with inflammatory bowel disease in Indians.

Plos One

Pugazhendhi, Srinivasan S; Baskaran, Kirankumar K; Santhanam, Srikanth S; Ramakrishna, Balakrishnan S BS

Publication Date: 2017

Variant appearance in text: rs3792109

PubMed Link: 28542425

Variant Present in the following documents:

• Main text
• pone.0178291.pdf

View BVdb publication page

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Transcriptomic landscape of lncRNAs in inflammatory bowel disease.

Genome Medicine

Mirza, Aashiq H AH; Berthelsen, Claus Hb CH; Seemann, Stefan E SE; Pan, Xiaoyong X; Frederiksen, Klaus S KS; Vilien, Mogens M; Gorodkin, Jan J; Pociot, Flemming F

Publication Date: 2015

Variant appearance in text: rs3792109

PubMed Link: 25991924

Variant Present in the following documents:

• Main text
• 13073_2015_Article_162.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: rs3792109

PubMed Link: 25944692

Variant Present in the following documents:

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

View BVdb publication page

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Effects of GWAS-associated genetic variants on lncRNAs within IBD and T1D candidate loci.

Plos One

Mirza, Aashiq H AH; Kaur, Simranjeet S; Brorsson, Caroline A CA; Pociot, Flemming F

Publication Date: 2014

Variant appearance in text: rs3792109

PubMed Link: 25144376

Variant Present in the following documents:

• pone.0105723.s013.xlsx, sheet 2

View BVdb publication page

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A novel approach to detect cumulative genetic effects and genetic interactions in Crohn's disease.

Inflammatory Bowel Diseases

Wang, Ming-Hsi MH; Fiocchi, Claudio C; Ripke, Stephan S; Zhu, Xiaofeng X; Duerr, Richard H RH; Achkar, Jean-Paul JP

Publication Date: 2013-08

Variant appearance in text: rs3792109

PubMed Link: 23598818

Variant Present in the following documents:

• Main text

View BVdb publication page

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IRF5 risk polymorphisms contribute to interindividual variance in pattern recognition receptor-mediated cytokine secretion in human monocyte-derived cells.

Journal Of Immunology (Baltimore, Md. : 1950)

Hedl, Matija M; Abraham, Clara C

Publication Date: 2012-06-01

Variant appearance in text: rs3792109

PubMed Link: 22544929

Variant Present in the following documents:

• Main text

View BVdb publication page

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Transmission distortion in Crohn's disease risk gene ATG16L1 leads to sex difference in disease association.

Inflammatory Bowel Diseases

Liu, Linda Y LY; Schaub, Marc A MA; Sirota, Marina M; Butte, Atul J AJ

Publication Date: 2012-02

Variant appearance in text: rs3792109

PubMed Link: 21618365

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.

Nature Genetics

Franke, Andre A; McGovern, Dermot P B DP; Barrett, Jeffrey C JC; Wang, Kai K; Radford-Smith, Graham L GL; Ahmad, Tariq T; Lees, Charlie W CW; Balschun, Tobias T; Lee, James J; Roberts, Rebecca R; Anderson, Carl A CA; Bis, Joshua C JC; Bumpstead, Suzanne S; Ellinghaus, David D; Festen, Eleonora M EM; Georges, Michel M; Green, Todd T; Haritunians, Talin T; Jostins, Luke L; Latiano, Anna A; Mathew, Christopher G CG; Montgomery, Grant W GW; Prescott, Natalie J NJ; Raychaudhuri, Soumya S; Rotter, Jerome I JI; Schumm, Philip P; Sharma, Yashoda Y; Simms, Lisa A LA; Taylor, Kent D KD; Whiteman, David D; Wijmenga, Cisca C; Baldassano, Robert N RN; Barclay, Murray M; Bayless, Theodore M TM; Brand, Stephan S; Büning, Carsten C; Cohen, Albert A; Colombel, Jean-Frederick JF; Cottone, Mario M; Stronati, Laura L; Denson, Ted T; De Vos, Martine M; D'Inca, Renata R; Dubinsky, Marla M; Edwards, Cathryn C; Florin, Tim T; Franchimont, Denis D; Gearry, Richard R; Glas, Jürgen J; Van Gossum, Andre A; Guthery, Stephen L SL; Halfvarson, Jonas J; Verspaget, Hein W HW; Hugot, Jean-Pierre JP; Karban, Amir A; Laukens, Debby D; Lawrance, Ian I; Lemann, Marc M; Levine, Arie A; Libioulle, Cecile C; Louis, Edouard E; Mowat, Craig C; Newman, William W; Panés, Julián J; Phillips, Anne A; Proctor, Deborah D DD; Regueiro, Miguel M; Russell, Richard R; Rutgeerts, Paul P; Sanderson, Jeremy J; Sans, Miquel M; Seibold, Frank F; Steinhart, A Hillary AH; Stokkers, Pieter C F PC; Torkvist, Leif L; Kullak-Ublick, Gerd G; Wilson, David D; Walters, Thomas T; Targan, Stephan R SR; Brant, Steven R SR; Rioux, John D JD; D'Amato, Mauro M; Weersma, Rinse K RK; Kugathasan, Subra S; Griffiths, Anne M AM; Mansfield, John C JC; Vermeire, Severine S; Duerr, Richard H RH; Silverberg, Mark S MS; Satsangi, Jack J; Schreiber, Stefan S; Cho, Judy H JH; Annese, Vito V; Hakonarson, Hakon H; Daly, Mark J MJ; Parkes, Miles M

Publication Date: 2010-12

Variant appearance in text: rs3792109

PubMed Link: 21102463

Variant Present in the following documents:

• Main text

View BVdb publication page

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