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: rs2290400

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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Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-25

Variant appearance in text: rs2290400

PubMed Link: 36966136

Variant Present in the following documents:

• 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2

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: rs2290400

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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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: rs2290400

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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Unravelling the Shared Genetic Mechanisms Underlying 18 Autoimmune Diseases Using a Systems Approach.

Frontiers In Immunology

Gokuladhas, Sreemol S; Schierding, William W; Golovina, Evgeniia E; Fadason, Tayaza T; O'Sullivan, Justin J

Publication Date: 2021

Variant appearance in text: rs2290400

PubMed Link: 34484189

Variant Present in the following documents:

• Main text
• fimmu-12-693142.pdf

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: rs2290400

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: rs2290400

PubMed Link: 34127860

Variant Present in the following documents:

• EMS123940-supplement-Supplementary_Tables.xlsx, sheet 14

View BVdb publication page

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Coaggregation of Asthma and Type 1 Diabetes in Children: A Narrative Review.

International Journal Of Molecular Sciences

Sgrazzutti, Laura L; Sansone, Francesco F; Attanasi, Marina M; Di Pillo, Sabrina S; Chiarelli, Francesco F

Publication Date: 2021-05-28

Variant appearance in text: rs2290400

PubMed Link: 34071190

Variant Present in the following documents:

• Main text

View BVdb publication page

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Toward prevention of childhood ALL by early-life immune training.

Blood

Hauer, Julia J; Fischer, Ute U; Borkhardt, Arndt A

Publication Date: 2021-10-21

Variant appearance in text: rs2290400

PubMed Link: 34010407

Variant Present in the following documents:

• Main text

View BVdb publication page

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Excessive Unbalanced Meat Consumption in the First Year of Life Increases Asthma Risk in the PASTURE and LUKAS2 Birth Cohorts.

Frontiers In Immunology

Hose, Alexander J AJ; Pagani, Giulia G; Karvonen, Anne M AM; Kirjavainen, Pirkka V PV; Roduit, Caroline C; Genuneit, Jon J; Schmaußer-Hechfellner, Elisabeth E; Depner, Martin M; Frei, Remo R; Lauener, Roger R; Riedler, Josef J; Schaub, Bianca B; Fuchs, Oliver O; von Mutius, Erika E; Divaret-Chauveau, Amandine A; Pekkanen, Juha J; Ege, Markus J MJ

Publication Date: 2021

Variant appearance in text: rs2290400

PubMed Link: 33986744

Variant Present in the following documents:

• Main text

View BVdb publication page

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Age-related differences of genetic susceptibility to patients with acute lymphoblastic leukemia.

Aging

Hao, Qing Q; Cao, Minyuan M; Zhang, Chunlan C; Yin, Dandan D; Wang, Yuelan Y; Ye, Yuanxin Y; Zhao, Shan S; Yang, Yunfan Y; Chen, Ke-Ling KL; Ying, Binwu B; Wang, Lanlan L; Zhang, Yiguan Y; Xu, Caigang C; Zhu, Yiping Y; Wu, Yu Y; Gao, Ju J; Zhao, Jun-Ning JN; Zhang, Yan Y; Lu, Xiaoxi X

Publication Date: 2021-04-23

Variant appearance in text: rs2290400

PubMed Link: 33891562

Variant Present in the following documents:

• Main text

View BVdb publication page

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Type 1 diabetes: genes associated with disease development.

Central-European Journal Of Immunology

Klak, Marta M; Gomółka, Magdalena M; Kowalska, Patrycja P; Cichoń, Justyna J; Ambrożkiewicz, Filip F; Serwańska-Świętek, Marta M; Berman, Andrzej A; Wszoła, Michał M

Publication Date: 2020

Variant appearance in text: rs2290400

PubMed Link: 33658892

Variant Present in the following documents:

• Main text
• CEJI-45-43203.pdf

View BVdb publication page

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Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)

Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S

Publication Date: 2021-06

Variant appearance in text: GSDMB: 408-63A>G; rs2290400

PubMed Link: 33503336

Variant Present in the following documents:

• CNR2-4-e1335-s003.xlsx, sheet 2
• CNR2-4-e1335-s003.xlsx, sheet 1

View BVdb publication page

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Genome-wide search for genes affecting the age at diagnosis of type 1 diabetes.

Journal Of Internal Medicine

Syreeni, A A; Sandholm, N N; Sidore, C C; Cucca, F F; Haukka, J J; Harjutsalo, V V; Groop, P-H PH; ,

Publication Date: 2021-05

Variant appearance in text: rs2290400

PubMed Link: 33179336

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genomics of asthma, allergy and chronic rhinosinusitis: novel concepts and relevance in airway mucosa.

Clinical And Translational Allergy

Laulajainen-Hongisto, Anu A; Lyly, Annina A; Hanif, Tanzeela T; Dhaygude, Kishor K; Kankainen, Matti M; Renkonen, Risto R; Donner, Kati K; Mattila, Pirkko P; Jartti, Tuomas T; Bousquet, Jean J; Kauppi, Paula P; Toppila-Salmi, Sanna S

Publication Date: 2020

Variant appearance in text: rs2290400

PubMed Link: 33133517

Variant Present in the following documents:

• Main text
• CLT2-10-45.pdf

View BVdb publication page

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Emerging insights on the role of gasdermins in infection and inflammatory diseases.

Clinical & Translational Immunology

Tang, Lipeng L; Lu, Chuanjian C; Zheng, Guangjuan G; Burgering, Boudewijn Mt BM

Publication Date: 2020

Variant appearance in text: rs2290400

PubMed Link: 33033617

Variant Present in the following documents:

• Main text
• CTI2-9-e1186.pdf

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: rs2290400

PubMed Link: 32879140

Variant Present in the following documents:

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

View BVdb publication page

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Leveraging Genome and Phenome-Wide Association Studies to Investigate Genetic Risk of Acute Lymphoblastic Leukemia.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Semmes, Eleanor C EC; Vijayakrishnan, Jayaram J; Zhang, Chenan C; Hurst, Jillian H JH; Houlston, Richard S RS; Walsh, Kyle M KM

Publication Date: 2020-08

Variant appearance in text: rs2290400

PubMed Link: 32467347

Variant Present in the following documents:

• Main text

View BVdb publication page

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Influence of Second-Hand Smoke and Prenatal Tobacco Smoke Exposure on Biomarkers, Genetics and Physiological Processes in Children-An Overview in Research Insights of the Last Few Years.

International Journal Of Environmental Research And Public Health

Braun, Markus M; Klingelhöfer, Doris D; Oremek, Gerhard M GM; Quarcoo, David D; Groneberg, David A DA

Publication Date: 2020-05-05

Variant appearance in text: rs2290400

PubMed Link: 32380770

Variant Present in the following documents:

• Main text
• ijerph-17-03212.pdf

View BVdb publication page

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DNA methylation near the INS gene is associated with INS genetic variation (rs689) and type 1 diabetes in the Diabetes Autoimmunity Study in the Young.

Pediatric Diabetes

Carry, Patrick M PM; Vanderlinden, Lauren A LA; Johnson, Randi K RK; Dong, Fran F; Steck, Andrea K AK; Frohnert, Brigitte I BI; Rewers, Marian M; Yang, Ivana V IV; Kechris, Katerina K; Norris, Jill M JM

Publication Date: 2020-06

Variant appearance in text: rs2290400

PubMed Link: 32061050

Variant Present in the following documents:

• Main text

View BVdb publication page

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The impact of proinflammatory cytokines on the β-cell regulatory landscape provides insights into the genetics of type 1 diabetes.

Nature Genetics

Ramos-Rodríguez, Mireia M; Raurell-Vila, Helena H; Colli, Maikel L ML; Alvelos, Maria Inês MI; Subirana-Granés, Marc M; Juan-Mateu, Jonàs J; Norris, Richard R; Turatsinze, Jean-Valery JV; Nakayasu, Ernesto S ES; Webb-Robertson, Bobbie-Jo M BM; Inshaw, Jamie R J JRJ; Marchetti, Piero P; Piemonti, Lorenzo L; Esteller, Manel M; Todd, John A JA; Metz, Thomas O TO; Eizirik, Décio L DL; Pasquali, Lorenzo L

Publication Date: 2019-11

Variant appearance in text: rs2290400

PubMed Link: 31676868

Variant Present in the following documents:

• NIHMS1540810-supplement-1.pdf

View BVdb publication page

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Allele-Specific Transcript Abundance: A Pilot Study in Healthy Centenarians.

The Journals Of Gerontology. Series A, Biological Sciences And Medical Sciences

Tindale, Lauren C LC; Thiessen, Nina N; Leach, Stephen S; Brooks-Wilson, Angela R AR

Publication Date: 2020-05-22

Variant appearance in text: rs2290400

PubMed Link: 31504207

Variant Present in the following documents:

• Main text

View BVdb publication page

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Exploration of shared genetic susceptibility loci between type 1 diabetes and rheumatoid arthritis in the Pakistani population.

Bmc Research Notes

Aslam, Muhammad Muaaz MM; John, Peter P; Fan, Kang-Hsien KH; Bhatti, Attya A; Jahangir, Sidrah S; Feingold, Eleanor E; Demirci, F Yesim FY; Kamboh, M Ilyas MI

Publication Date: 2019-08-27

Variant appearance in text: rs2290400

PubMed Link: 31455420

Variant Present in the following documents:

• Main text
• 13104_2019_Article_4590.pdf

View BVdb publication page

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Identification of infants with increased type 1 diabetes genetic risk for enrollment into Primary Prevention Trials-GPPAD-02 study design and first results.

Pediatric Diabetes

Winkler, Christiane C; Haupt, Florian F; Heigermoser, Martin M; Zapardiel-Gonzalo, Jose J; Ohli, Jasmin J; Faure, Theresa T; Kalideri, Evdokia E; Hommel, Angela A; Delivani, Petrina P; Berner, Reinhard R; Kordonouri, Olga O; Roloff, Frank F; von dem Berge, Thekla T; Lange, Karin K; Oltarzewski, Mariusz M; Glab, Ryszard R; Szypowska, Agnieszka A; Snape, Matthew D MD; Vatish, Manu M; Todd, John A JA; Larsson, Helena E HE; Ramelius, Anita A; Kördel, Jeanette Å JÅ; Casteels, Kristina K; Paulus, Jasmin J; Ziegler, Anette G AG; Bonifacio, Ezio E; ,

Publication Date: 2019-09

Variant appearance in text: rs2290400

PubMed Link: 31192505

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Mechanisms Highlight Shared Pathways for the Pathogenesis of Polygenic Type 1 Diabetes and Monogenic Autoimmune Diabetes.

Current Diabetes Reports

Johnson, Matthew B MB; Cerosaletti, Karen K; Flanagan, Sarah E SE; Buckner, Jane H JH

Publication Date: 2019-03-19

Variant appearance in text: rs2290400

PubMed Link: 30888520

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genomic Predictors of Asthma Phenotypes and Treatment Response.

Frontiers In Pediatrics

Hernandez-Pacheco, Natalia N; Pino-Yanes, Maria M; Flores, Carlos C

Publication Date: 2019

Variant appearance in text: rs2290400

PubMed Link: 30805318

Variant Present in the following documents:

• Main text
• fped-07-00006.pdf

View BVdb publication page

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Lessons Learned From GWAS of Asthma.

Allergy, Asthma & Immunology Research

Kim, Kyung Won KW; Ober, Carole C

Publication Date: 2019-03

Variant appearance in text: rs2290400

PubMed Link: 30661310

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of deleterious and regulatory genomic variations in known asthma loci.

Respiratory Research

Neville, Matthew D C MDC; Choi, Jihoon J; Lieberman, Jonathan J; Duan, Qing Ling QL

Publication Date: 2018-12-12

Variant appearance in text: rs2290400

PubMed Link: 30541564

Variant Present in the following documents:

• Main text
• 12931_2018_Article_953.pdf

View BVdb publication page

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Application of a Genetic Risk Score to Racially Diverse Type 1 Diabetes Populations Demonstrates the Need for Diversity in Risk-Modeling.

Scientific Reports

Perry, Daniel J DJ; Wasserfall, Clive H CH; Oram, Richard A RA; Williams, MacKenzie D MD; Posgai, Amanda A; Muir, Andrew B AB; Haller, Michael J MJ; Schatz, Desmond A DA; Wallet, Mark A MA; Mathews, Clayton E CE; Atkinson, Mark A MA; Brusko, Todd M TM

Publication Date: 2018-03-14

Variant appearance in text: rs2290400

PubMed Link: 29540798

Variant Present in the following documents:

• Main text

View BVdb publication page

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GWAS in childhood acute lymphoblastic leukemia reveals novel genetic associations at chromosomes 17q12 and 8q24.21.

Nature Communications

Wiemels, Joseph L JL; Walsh, Kyle M KM; de Smith, Adam J AJ; Metayer, Catherine C; Gonseth, Semira S; Hansen, Helen M HM; Francis, Stephen S SS; Ojha, Juhi J; Smirnov, Ivan I; Barcellos, Lisa L; Xiao, Xiaorong X; Morimoto, Libby L; McKean-Cowdin, Roberta R; Wang, Rong R; Yu, Herbert H; Hoh, Josephine J; DeWan, Andrew T AT; Ma, Xiaomei X

Publication Date: 2018-01-18

Variant appearance in text: rs2290400

PubMed Link: 29348612

Variant Present in the following documents:

• Main text
• 41467_2017_Article_2596.pdf
• 41467_2017_2596_MOESM2_ESM.pdf

View BVdb publication page

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A decade of research on the 17q12-21 asthma locus: Piecing together the puzzle.

The Journal Of Allergy And Clinical Immunology

Stein, Michelle M MM; Thompson, Emma E EE; Schoettler, Nathan N; Helling, Britney A BA; Magnaye, Kevin M KM; Stanhope, Catherine C; Igartua, Catherine C; Morin, Andréanne A; Washington, Charles C; Nicolae, Dan D; Bønnelykke, Klaus K; Ober, Carole C

Publication Date: 2018-09

Variant appearance in text: rs2290400

PubMed Link: 29307657

Variant Present in the following documents:

• Main text

View BVdb publication page

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Isogenic Cellular Systems Model the Impact of Genetic Risk Variants in the Pathogenesis of Type 1 Diabetes.

Frontiers In Endocrinology

Wallet, Mark A MA; Santostefano, Katherine E KE; Terada, Naohiro N; Brusko, Todd M TM

Publication Date: 2017

Variant appearance in text: rs2290400

PubMed Link: 29093700

Variant Present in the following documents:

• Main text
• fendo-08-00276.pdf

View BVdb publication page

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Prediction of type 1 diabetes using a genetic risk model in the Diabetes Autoimmunity Study in the Young.

Pediatric Diabetes

Frohnert, Brigitte I BI; Laimighofer, Michael M; Krumsiek, Jan J; Theis, Fabian J FJ; Winkler, Christiane C; Norris, Jill M JM; Ziegler, Anette-Gabriele AG; Rewers, Marian J MJ; Steck, Andrea K AK

Publication Date: 2018-03

Variant appearance in text: rs2290400

PubMed Link: 28695611

Variant Present in the following documents:

• Main text

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: rs2290400

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Effects of Type 1 Diabetes Risk Alleles on Immune Cell Gene Expression.

Genes

Ram, Ramesh R; Morahan, Grant G

Publication Date: 2017-06-21

Variant appearance in text: rs2290400

PubMed Link: 28635624

Variant Present in the following documents:

• Main text
• genes-08-00167.pdf

View BVdb publication page

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Can Non-HLA Single Nucleotide Polymorphisms Help Stratify Risk in TrialNet Relatives at Risk for Type 1 Diabetes?

The Journal Of Clinical Endocrinology And Metabolism

Steck, Andrea K AK; Xu, Ping P; Geyer, Susan S; Redondo, Maria J MJ; Antinozzi, Peter P; Wentworth, John M JM; Sosenko, Jay J; Onengut-Gumuscu, Suna S; Chen, Wei-Min WM; Rich, Stephen S SS; Pugliese, Alberto A; ,

Publication Date: 2017-08-01

Variant appearance in text: rs2290400

PubMed Link: 28520980

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of novel polymorphisms in TMEM39A gene with systemic lupus erythematosus in a Chinese Han population.

Bmc Medical Genetics

Cai, Xinze X; Huang, Wenyue W; Liu, Xudong X; Wang, Lining L; Jiang, Yi Y

Publication Date: 2017-04-20

Variant appearance in text: rs2290400

PubMed Link: 28427360

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs2290400

PubMed Link: 28347358

Variant Present in the following documents:

• Main text
• 13073_2017_Article_418.pdf

View BVdb publication page

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Late-onset islet autoimmunity in childhood: the Diabetes Autoimmunity Study in the Young (DAISY).

Diabetologia

Frohnert, Brigitte I BI; Ide, Lisa L; Dong, Fran F; Barón, Anna E AE; Steck, Andrea K AK; Norris, Jill M JM; Rewers, Marian J MJ

Publication Date: 2017-06

Variant appearance in text: rs2290400

PubMed Link: 28314946

Variant Present in the following documents:

• Main text

View BVdb publication page

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Combining genomewide association study and lung eQTL analysis provides evidence for novel genes associated with asthma.

Allergy

Nieuwenhuis, M A MA; Siedlinski, M M; van den Berge, M M; Granell, R R; Li, X X; Niens, M M; van der Vlies, P P; Altmüller, J J; Nürnberg, P P; Kerkhof, M M; van Schayck, O C OC; Riemersma, R A RA; van der Molen, T T; de Monchy, J G JG; Bossé, Y Y; Sandford, A A; Bruijnzeel-Koomen, C A CA; Gerth van Wijk, R R; Ten Hacken, N H NH; Timens, W W; Boezen, H M HM; Henderson, J J; Kabesch, M M; Vonk, J M JM; Postma, D S DS; Koppelman, G H GH

Publication Date: 2016-12

Variant appearance in text: rs2290400

PubMed Link: 27439200

Variant Present in the following documents:

• Main text

View BVdb publication page

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Consensus Genome-Wide Expression Quantitative Trait Loci and Their Relationship with Human Complex Trait Disease.

Omics : A Journal Of Integrative Biology

Yu, Chen-Hsin CH; Pal, Lipika R LR; Moult, John J

Publication Date: 2016-07

Variant appearance in text: rs2290400

PubMed Link: 27428252

Variant Present in the following documents:

• Main text

View BVdb publication page

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Detection and interpretation of shared genetic influences on 42 human traits.

Nature Genetics

Pickrell, Joseph K JK; Berisa, Tomaz T; Liu, Jimmy Z JZ; Ségurel, Laure L; Tung, Joyce Y JY; Hinds, David A DA

Publication Date: 2016-07

Variant appearance in text: rs2290400

PubMed Link: 27182965

Variant Present in the following documents:

• NIHMS780506-supplement-5.pdf
• NIHMS780506-supplement-6.pdf

View BVdb publication page

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Systematic Evaluation of Genes and Genetic Variants Associated with Type 1 Diabetes Susceptibility.

Journal Of Immunology (Baltimore, Md. : 1950)

Ram, Ramesh R; Mehta, Munish M; Nguyen, Quang T QT; Larma, Irma I; Boehm, Bernhard O BO; Pociot, Flemming F; Concannon, Patrick P; Morahan, Grant G

Publication Date: 2016-04-01

Variant appearance in text: rs2290400

PubMed Link: 26912320

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Risk Score Modelling for Disease Progression in New-Onset Type 1 Diabetes Patients: Increased Genetic Load of Islet-Expressed and Cytokine-Regulated Candidate Genes Predicts Poorer Glycemic Control.

Journal Of Diabetes Research

Brorsson, Caroline A CA; Nielsen, Lotte B LB; Andersen, Marie Louise ML; Kaur, Simranjeet S; Bergholdt, Regine R; Hansen, Lars L; Mortensen, Henrik B HB; Pociot, Flemming F; Størling, Joachim J; ,

Publication Date: 2016

Variant appearance in text: rs2290400

PubMed Link: 26904692

Variant Present in the following documents:

• Main text
• JDR2016-9570424.pdf

View BVdb publication page

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Non-HLA type 1 diabetes genes modulate disease risk together with HLA-DQ and islet autoantibodies.

Genes And Immunity

Maziarz, M M; Hagopian, W W; Palmer, J P JP; Sanjeevi, C B CB; Kockum, I I; Breslow, N N; Lernmark, Å Å; , ; , ; ,

Publication Date: 2015-12

Variant appearance in text: rs2290400

PubMed Link: 26513234

Variant Present in the following documents:

• Main text
• NIHMS719384-supplement-1.pdf

View BVdb publication page

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Phenome-wide association study (PheWAS) in EMR-linked pediatric cohorts, genetically links PLCL1 to speech language development and IL5-IL13 to Eosinophilic Esophagitis.

Frontiers In Genetics

Namjou, Bahram B; Marsolo, Keith K; Caroll, Robert J RJ; Denny, Joshua C JC; Ritchie, Marylyn D MD; Verma, Shefali S SS; Lingren, Todd T; Porollo, Aleksey A; Cobb, Beth L BL; Perry, Cassandra C; Kottyan, Leah C LC; Rothenberg, Marc E ME; Thompson, Susan D SD; Holm, Ingrid A IA; Kohane, Isaac S IS; Harley, John B JB

Publication Date: 2014

Variant appearance in text: rs2290400

PubMed Link: 25477900

Variant Present in the following documents:

• Main text
• fgene-05-00401.pdf

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Role of Type 1 Diabetes-Associated SNPs on Risk of Autoantibody Positivity in the TEDDY Study.

Diabetes

Törn, Carina C; Hadley, David D; Lee, Hye-Seung HS; Hagopian, William W; Lernmark, Åke Å; Simell, Olli O; Rewers, Marian M; Ziegler, Anette A; Schatz, Desmond D; Akolkar, Beena B; Onengut-Gumuscu, Suna S; Chen, Wei-Min WM; Toppari, Jorma J; Mykkänen, Juha J; Ilonen, Jorma J; Rich, Stephen S SS; She, Jin-Xiong JX; Steck, Andrea K AK; Krischer, Jeffrey J; ,

Publication Date: 2015-05

Variant appearance in text: rs2290400

PubMed Link: 25422107

Variant Present in the following documents:

• Main text

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Improving prediction of type 1 diabetes by testing non-HLA genetic variants in addition to HLA markers.

Pediatric Diabetes

Steck, Andrea K AK; Dong, Fran F; Wong, Randall R; Fouts, Alexandra A; Liu, Edwin E; Romanos, Jihane J; Wijmenga, Cisca C; Norris, Jill M JM; Rewers, Marian J MJ

Publication Date: 2014-08

Variant appearance in text: rs2290400

PubMed Link: 25075402

Variant Present in the following documents:

• Main text

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Regulation of gene expression in autoimmune disease loci and the genetic basis of proliferation in CD4+ effector memory T cells.

Plos Genetics

Hu, Xinli X; Kim, Hyun H; Raj, Towfique T; Brennan, Patrick J PJ; Trynka, Gosia G; Teslovich, Nikola N; Slowikowski, Kamil K; Chen, Wei-Min WM; Onengut, Suna S; Baecher-Allan, Clare C; De Jager, Philip L PL; Rich, Stephen S SS; Stranger, Barbara E BE; Brenner, Michael B MB; Raychaudhuri, Soumya S

Publication Date: 2014-06

Variant appearance in text: rs2290400

PubMed Link: 24968232

Variant Present in the following documents:

• Main text
• pgen.1004404.pdf

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The splice site variant rs11078928 may be associated with a genotype-dependent alteration in expression of GSDMB transcripts.

Bmc Genomics

Morrison, Faer S FS; Locke, Jonathan M JM; Wood, Andrew R AR; Tuke, Marcus M; Pasko, Dorota D; Murray, Anna A; Frayling, Tim T; Harries, Lorna W LW

Publication Date: 2013-09-17

Variant appearance in text: rs2290400

PubMed Link: 24044605

Variant Present in the following documents:

• Main text

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From interaction to co-association --a Fisher r-to-z transformation-based simple statistic for real world genome-wide association study.

Plos One

Yuan, Zhongshang Z; Liu, Hong H; Zhang, Xiaoshuai X; Li, Fangyu F; Zhao, Jinghua J; Zhang, Furen F; Xue, Fuzhong F

Publication Date: 2013

Variant appearance in text: rs2290400

PubMed Link: 23923021

Variant Present in the following documents:

• Main text

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SCAN: a systems biology approach to pharmacogenomic discovery.

Methods In Molecular Biology (Clifton, N.J.)

Gamazon, Eric R ER; Huang, R Stephanie RS; Cox, Nancy J NJ

Publication Date: 2013

Variant appearance in text: rs2290400

PubMed Link: 23824859

Variant Present in the following documents:

• Main text

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Complex multi-block analysis identifies new immunologic and genetic disease progression patterns associated with the residual β-cell function 1 year after diagnosis of type 1 diabetes.

Plos One

Andersen, Marie Louise Max ML; Rasmussen, Morten Arendt MA; Pörksen, Sven S; Svensson, Jannet J; Vikre-Jørgensen, Jennifer J; Thomsen, Jane J; Hertel, Niels Thomas NT; Johannesen, Jesper J; Pociot, Flemming F; Petersen, Jacob Sten JS; Hansen, Lars L; Mortensen, Henrik Bindesbøl HB; Nielsen, Lotte Brøndum LB

Publication Date: 2013

Variant appearance in text: rs2290400

PubMed Link: 23755131

Variant Present in the following documents:

• Main text

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Using eQTL weights to improve power for genome-wide association studies: a genetic study of childhood asthma.

Frontiers In Genetics

Li, Lin L; Kabesch, Michael M; Bouzigon, Emmanuelle E; Demenais, Florence F; Farrall, Martin M; Moffatt, Miriam F MF; Lin, Xihong X; Liang, Liming L

Publication Date: 2013

Variant appearance in text: rs2290400

PubMed Link: 23755072

Variant Present in the following documents:

• Main text

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Rhinovirus wheezing illness and genetic risk of childhood-onset asthma.

The New England Journal Of Medicine

Calışkan, Minal M; Bochkov, Yury A YA; Kreiner-Møller, Eskil E; Bønnelykke, Klaus K; Stein, Michelle M MM; Du, Gaixin G; Bisgaard, Hans H; Jackson, Daniel J DJ; Gern, James E JE; Lemanske, Robert F RF; Nicolae, Dan L DL; Ober, Carole C

Publication Date: 2013-04-11

Variant appearance in text: rs2290400

PubMed Link: 23534543

Variant Present in the following documents:

• Main text

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Examination of the relationship between variation at 17q21 and childhood wheeze phenotypes.

The Journal Of Allergy And Clinical Immunology

Granell, Raquel R; Henderson, A John AJ; Timpson, Nicholas N; St Pourcain, Beate B; Kemp, John P JP; Ring, Susan M SM; Ho, Karen K; Montgomery, Stephen B SB; Dermitzakis, Emmanouil T ET; Evans, David M DM; Sterne, Jonathan A C JA

Publication Date: 2013-03

Variant appearance in text: rs2290400

PubMed Link: 23154084

Variant Present in the following documents:

• Main text

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Evidence of gene-gene interaction and age-at-diagnosis effects in type 1 diabetes.

Diabetes

Howson, Joanna M M JM; Cooper, Jason D JD; Smyth, Deborah J DJ; Walker, Neil M NM; Stevens, Helen H; She, Jin-Xiong JX; Eisenbarth, George S GS; Rewers, Marian M; Todd, John A JA; Akolkar, Beena B; Concannon, Patrick P; Erlich, Henry A HA; Julier, Cécile C; Morahan, Grant G; Nerup, Jørn J; Nierras, Concepcion C; Pociot, Flemming F; Rich, Stephen S SS; ,

Publication Date: 2012-11

Variant appearance in text: rs2290400

PubMed Link: 22891215

Variant Present in the following documents:

• Main text

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