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: rs1551443

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

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: rs1551443

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes.

Nature Genetics

Robertson, Catherine C CC; Inshaw, Jamie R J JRJ; Onengut-Gumuscu, Suna S; Chen, Wei-Min WM; Santa Cruz, David Flores DF; Yang, Hanzhi H; Cutler, Antony J AJ; Crouch, Daniel J M DJM; Farber, Emily E; Bridges, S Louis SL; Edberg, Jeffrey C JC; Kimberly, Robert P RP; Buckner, Jane H JH; Deloukas, Panos P; Divers, Jasmin J; Dabelea, Dana D; Lawrence, Jean M JM; Marcovina, Santica S; Shah, Amy S AS; Greenbaum, Carla J CJ; Atkinson, Mark A MA; Gregersen, Peter K PK; Oksenberg, Jorge R JR; Pociot, Flemming F; Rewers, Marian J MJ; Steck, Andrea K AK; Dunger, David B DB; , ; Wicker, Linda S LS; Concannon, Patrick P; Todd, John A JA; Rich, Stephen S SS

Publication Date: 2021-07

Variant appearance in text: rs1551443

PubMed Link: 34127860

Variant Present in the following documents:

• EMS123940-supplement-Supplementary_Tables.xlsx, sheet 14

View BVdb publication page

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Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes.

Nature Genetics

Robertson, Catherine C CC; Inshaw, Jamie R J JRJ; Onengut-Gumuscu, Suna S; Chen, Wei-Min WM; Santa Cruz, David Flores DF; Yang, Hanzhi H; Cutler, Antony J AJ; Crouch, Daniel J M DJM; Farber, Emily E; Bridges, S Louis SL; Edberg, Jeffrey C JC; Kimberly, Robert P RP; Buckner, Jane H JH; Deloukas, Panos P; Divers, Jasmin J; Dabelea, Dana D; Lawrence, Jean M JM; Marcovina, Santica S; Shah, Amy S AS; Greenbaum, Carla J CJ; Atkinson, Mark A MA; Gregersen, Peter K PK; Oksenberg, Jorge R JR; Pociot, Flemming F; Rewers, Marian J MJ; Steck, Andrea K AK; Dunger, David B DB; , ; Wicker, Linda S LS; Concannon, Patrick P; Todd, John A JA; Rich, Stephen S SS

Publication Date: 2021-07

Variant appearance in text: rs1551443

PubMed Link: 34127860

Variant Present in the following documents:

• EMS123940-supplement-Supplementary_Tables.xlsx, sheet 14

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: rs1551443

PubMed Link: 32879140

Variant Present in the following documents:

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

View BVdb publication page

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Gene-level association analysis of systemic sclerosis: A comparison of African-Americans and White populations.

Plos One

Gorlova, Olga Y OY; Li, Yafang Y; Gorlov, Ivan I; Ying, Jun J; Chen, Wei V WV; Assassi, Shervin S; Reveille, John D JD; Arnett, Frank C FC; Zhou, Xiaodong X; Bossini-Castillo, Lara L; Lopez-Isac, Elena E; Acosta-Herrera, Marialbert M; Gregersen, Peter K PK; Lee, Annette T AT; Steen, Virginia D VD; Fessler, Barri J BJ; Khanna, Dinesh D; Schiopu, Elena E; Silver, Richard M RM; Molitor, Jerry A JA; Furst, Daniel E DE; Kafaja, Suzanne S; Simms, Robert W RW; Lafyatis, Robert A RA; Carreira, Patricia P; Simeon, Carmen Pilar CP; Castellvi, Ivan I; Beltran, Emma E; Ortego, Norberto N; Amos, Christopher I CI; Martin, Javier J; Mayes, Maureen D MD

Publication Date: 2018

Variant appearance in text: rs1551443

PubMed Link: 29293537

Variant Present in the following documents:

• Main text
• pone.0189498.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: rs1551443

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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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: rs1551443

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 1
• mmc3.xlsx, sheet 2

View BVdb publication page

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Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics

Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A

Publication Date: 2014-12-11

Variant appearance in text: rs1551443

PubMed Link: 25496518

Variant Present in the following documents:

• 40246_2014_20_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Association study of genes controlling IL-12-dependent IFN-γ immunity: STAT4 alleles increase risk of pulmonary tuberculosis in Morocco.

The Journal Of Infectious Diseases

Sabri, Ayoub A; Grant, Audrey V AV; Cosker, Kristel K; El Azbaoui, Safa S; Abid, Ahmed A; Abderrahmani Rhorfi, Ismail I; Souhi, Hicham H; Janah, Hicham H; Alaoui-Tahiri, Kebir K; Gharbaoui, Yasser Y; Benkirane, Majid M; Orlova, Marianna M; Boland, Anne A; Deswarte, Caroline C; Migaud, Melanie M; Bustamante, Jacinta J; Schurr, Erwin E; Boisson-Dupuis, Stephanie S; Casanova, Jean-Laurent JL; Abel, Laurent L; El Baghdadi, Jamila J

Publication Date: 2014-08-15

Variant appearance in text: rs1551443

PubMed Link: 24610875

Variant Present in the following documents:

• Main text
• jiu140.pdf

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Role of STAT4 polymorphisms in systemic lupus erythematosus in a Japanese population: a case-control association study of the STAT1-STAT4 region.

Arthritis Research & Therapy

Kawasaki, Aya A; Ito, Ikue I; Hikami, Koki K; Ohashi, Jun J; Hayashi, Taichi T; Goto, Daisuke D; Matsumoto, Isao I; Ito, Satoshi S; Tsutsumi, Akito A; Koga, Minori M; Arinami, Tadao T; Graham, Robert R RR; Hom, Geoffrey G; Takasaki, Yoshinari Y; Hashimoto, Hiroshi H; Behrens, Timothy W TW; Sumida, Takayuki T; Tsuchiya, Naoyuki N

Publication Date: 2008

Variant appearance in text: rs1551443

PubMed Link: 18803832

Variant Present in the following documents:

• Main text

View BVdb publication page

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A risk haplotype of STAT4 for systemic lupus erythematosus is over-expressed, correlates with anti-dsDNA and shows additive effects with two risk alleles of IRF5.

Human Molecular Genetics

Sigurdsson, Snaevar S; Nordmark, Gunnel G; Garnier, Sophie S; Grundberg, Elin E; Kwan, Tony T; Nilsson, Olof O; Eloranta, Maija-Leena ML; Gunnarsson, Iva I; Svenungsson, Elisabet E; Sturfelt, Gunnar G; Bengtsson, Anders A AA; Jönsen, Andreas A; Truedsson, Lennart L; Rantapää-Dahlqvist, Solbritt S; Eriksson, Catharina C; Alm, Gunnar G; Göring, Harald H H HH; Pastinen, Tomi T; Syvänen, Ann-Christine AC; Rönnblom, Lars L

Publication Date: 2008-09-15

Variant appearance in text: rs1551443

PubMed Link: 18579578

Variant Present in the following documents:

• Main text
• ddn184.pdf

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