Publications:

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Role of the Gut-Brain Axis in the Shared Genetic Etiology Between Gastrointestinal Tract Diseases and Psychiatric Disorders: A Genome-Wide Pleiotropic Analysis.

Jama Psychiatry

Gong, Weiming W; Guo, Ping P; Li, Yuanming Y; Liu, Lu L; Yan, Ran R; Liu, Shuai S; Wang, Shukang S; Xue, Fuzhong F; Zhou, Xiang X; Yuan, Zhongshang Z

Publication Date: 2023-02-08

Variant appearance in text: rs2304204

PubMed Link: 36753304

Variant Present in the following documents:

• jamapsychiatry-e224974-s001.pdf

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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: IRF3: -141A>G; rs2304204

PubMed Link: 36409824

Variant Present in the following documents:

• can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1

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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: rs2304204

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer

Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC

Publication Date: 2021-05-29

Variant appearance in text: IRF3: -141A>G; rs2304204

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1

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: rs2304204

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight

Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL

Publication Date: 2020-09-03

Variant appearance in text: rs2304204

PubMed Link: 32879140

Variant Present in the following documents:

• jciinsight-5-136477-s105.xlsx, sheet 5

View BVdb publication page

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Independent Replication on Genome-Wide Association Study Signals Identifies IRF3 as a Novel Locus for Systemic Lupus Erythematosus.

Frontiers In Genetics

Zhang, Feixia F; Wang, Yong-Fei YF; Zhang, Yan Y; Lin, Zhiming Z; Cao, Yujie Y; Zhang, Huoru H; Liu, Zhong-Yi ZY; Morris, David L DL; Sheng, Yujun Y; Cui, Yong Y; Zhang, Xuejun X; Vyse, Timothy J TJ; Lau, Yu Lung YL; Yang, Wanling W; Chen, Yanhui Y

Publication Date: 2020

Variant appearance in text: rs2304204

PubMed Link: 32719713

Variant Present in the following documents:

• Main text
• fgene-11-00600.pdf

View BVdb publication page

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Epistatic effect of TLR3 and cGAS-STING-IKKε-TBK1-IFN signaling variants on colorectal cancer risk.

Cancer Medicine

Catalano, Calogerina C; da Silva Filho, Miguel Inacio MI; Frank, Christoph C; Lu, Shun S; Jiraskova, Katerina K; Vymetalkova, Veronika V; Levy, Miroslav M; Liska, Vaclav V; Vycital, Ondrej O; Naccarati, Alessio A; Vodickova, Ludmila L; Hemminki, Kari K; Vodicka, Pavel P; Weber, Alexander N R ANR; Försti, Asta A

Publication Date: 2020-02

Variant appearance in text: rs2304204

PubMed Link: 31869529

Variant Present in the following documents:

• Main text

View BVdb publication page

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Functional genomics reveal gene regulatory mechanisms underlying schizophrenia risk.

Nature Communications

Huo, Yongxia Y; Li, Shiwu S; Liu, Jiewei J; Li, Xiaoyan X; Luo, Xiong-Jian XJ

Publication Date: 2019-02-08

Variant appearance in text: rs2304204

PubMed Link: 30737407

Variant Present in the following documents:

• Main text
• 41467_2019_Article_8666.pdf
• 41467_2019_8666_MOESM1_ESM.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: rs2304204

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1

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: rs2304204

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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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: rs2304204

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: rs2304204

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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Genes, environment and gene expression in colon tissue: a pathway approach to determining functionality.

International Journal Of Molecular Epidemiology And Genetics

Slattery, Martha L ML; Pellatt, Daniel F DF; Wolff, Roger K RK; Lundgreen, Abbie A

Publication Date: 2016

Variant appearance in text: rs2304204

PubMed Link: 27186328

Variant Present in the following documents:

• Main text

View BVdb publication page

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Two Genetic Variations in the IRF8 region are associated with Behçet's disease in Han Chinese.

Scientific Reports

Jiang, Yanni Y; Wang, Hong H; Yu, Hongsong H; Li, Lin L; Xu, Dengfeng D; Hou, Shengping S; Kijlstra, Aize A; Yang, Peizeng P

Publication Date: 2016-01-22

Variant appearance in text: rs2304204

PubMed Link: 26794091

Variant Present in the following documents:

• Main text
• srep19651.pdf

View BVdb publication page

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: rs2304204

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2

View BVdb publication page

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Single nucleotide polymorphisms within interferon signaling pathway genes are associated with colorectal cancer susceptibility and survival.

Plos One

Lu, Shun S; Pardini, Barbara B; Cheng, Bowang B; Naccarati, Alessio A; Huhn, Stefanie S; Vymetalkova, Veronika V; Vodickova, Ludmila L; Buchler, Thomas T; Hemminki, Kari K; Vodicka, Pavel P; Försti, Asta A

Publication Date: 2014

Variant appearance in text: rs2304204

PubMed Link: 25350395

Variant Present in the following documents:

• Main text
• pone.0111061.pdf

View BVdb publication page

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A pathway approach to evaluating the association between the CHIEF pathway and risk of colorectal cancer.

Carcinogenesis

Slattery, Martha L ML; Wolff, Roger K RK; Lundgreen, Abbie A

Publication Date: 2015-01

Variant appearance in text: rs2304204

PubMed Link: 25330801

Variant Present in the following documents:

• Main text

View BVdb publication page

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Interferon regulatory factor 3 as key element of the interferon signature in plasmacytoid dendritic cells from systemic lupus erythematosus patients: novel genetic associations in the Mexican mestizo population.

Clinical And Experimental Immunology

Santana-de Anda, K K; Gómez-Martín, D D; Monsivais-Urenda, A E AE; Salgado-Bustamante, M M; González-Amaro, R R; Alcocer-Varela, J J

Publication Date: 2014-12

Variant appearance in text: rs2304204

PubMed Link: 25130328

Variant Present in the following documents:

• Main text

View BVdb publication page

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HSD3B and gene-gene interactions in a pathway-based analysis of genetic susceptibility to bladder cancer.

Plos One

Andrew, Angeline S AS; Hu, Ting T; Gu, Jian J; Gui, Jiang J; Ye, Yuanqing Y; Marsit, Carmen J CJ; Kelsey, Karl T KT; Schned, Alan R AR; Tanyos, Sam A SA; Pendleton, Eben M EM; Mason, Rebecca A RA; Morlock, Elaine V EV; Zens, Michael S MS; Li, Zhongze Z; Moore, Jason H JH; Wu, Xifeng X; Karagas, Margaret R MR

Publication Date: 2012

Variant appearance in text: rs2304204

PubMed Link: 23284679

Variant Present in the following documents:

• Main text
• pone.0051301.pdf

View BVdb publication page

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No association between IRF3 polymorphism and susceptibility to hepatitis B virus infection in Chinese patients.

World Journal Of Gastroenterology

Yan, Fang F; Gao, Yu-Feng YF; Lv, Feng F; Zhang, Tian-Chen TC; Li, Xu X; Yin, Hua-Fa HF

Publication Date: 2012-01-28

Variant appearance in text: rs2304204

PubMed Link: 22294846

Variant Present in the following documents:

• Main text

View BVdb publication page

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Interferon-signaling pathway: associations with colon and rectal cancer risk and subsequent survival.

Carcinogenesis

Slattery, Martha L ML; Lundgreen, Abbie A; Bondurant, Kristina L KL; Wolff, Roger K RK

Publication Date: 2011-11

Variant appearance in text: rs2304204

PubMed Link: 21859832

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic associations in type I interferon related pathways with autoimmunity.

Arthritis Research & Therapy

Delgado-Vega, Angélica M AM; Alarcón-Riquelme, Marta E ME; Kozyrev, Sergey V SV

Publication Date: 2010

Variant appearance in text: rs2304204

PubMed Link: 20392289

Variant Present in the following documents:

• Main text
• ar2883.pdf

View BVdb publication page

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Variants in interferon-alpha pathway genes and response to pegylated interferon-Alpha2a plus ribavirin for treatment of chronic hepatitis C virus infection in the hepatitis C antiviral long-term treatment against cirrhosis trial.

Hepatology (Baltimore, Md.)

Welzel, Tania Mara TM; Morgan, Timothy R TR; Bonkovsky, Herbert L HL; Naishadham, Deepa D; Pfeiffer, Ruth M RM; Wright, Elizabeth C EC; Hutchinson, Amy A AA; Crenshaw, Andrew T AT; Bashirova, Arman A; Carrington, Mary M; Dotrang, Myhanh M; Sterling, Richard K RK; Lindsay, Karen L KL; Fontana, Robert J RJ; Lee, William M WM; Di Bisceglie, Adrian M AM; Ghany, Marc G MG; Gretch, David R DR; Chanock, Stephen J SJ; Chung, Raymond T RT; O'Brien, Thomas R TR; ,

Publication Date: 2009-06

Variant appearance in text: rs2304204

PubMed Link: 19434718

Variant Present in the following documents:

• Main text

View BVdb publication page

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Common variants in immune and DNA repair genes and risk for human papillomavirus persistence and progression to cervical cancer.

The Journal Of Infectious Diseases

Wang, Sophia S SS; Bratti, M Concepcion MC; Rodríguez, Ana Cecilia AC; Herrero, Rolando R; Burk, Robert D RD; Porras, Carolina C; González, Paula P; Sherman, Mark E ME; Wacholder, Sholom S; Lan, Z Elizabeth ZE; Schiffman, Mark M; Chanock, Stephen J SJ; Hildesheim, Allan A

Publication Date: 2009-01-01

Variant appearance in text: rs2304204

PubMed Link: 19012493

Variant Present in the following documents:

• Main text

View BVdb publication page

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