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: rs3130573

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: rs3130573

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Break on through: The role of innate immunity and barrier defence in atopic dermatitis and psoriasis.

Skin Health And Disease

Hawerkamp, H C HC; Fahy, C M R CMR; Fallon, P G PG; Schwartz, C C

Publication Date: 2022-06

Variant appearance in text: rs3130573

PubMed Link: 35677926

Variant Present in the following documents:

• Main text
• SKI2-2-e99.pdf

View BVdb publication page

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Genome wide association study of HTLV-1-associated myelopathy/tropical spastic paraparesis in the Japanese population.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Penova, Marina M; Kawaguchi, Shuji S; Yasunaga, Jun-Ichirou JI; Kawaguchi, Takahisa T; Sato, Tomoo T; Takahashi, Meiko M; Shimizu, Masakazu M; Saito, Mineki M; Tsukasaki, Kunihiro K; Nakagawa, Masanori M; Takenouchi, Norihiro N; Hara, Hideo H; Matsuura, Eiji E; Nozuma, Satoshi S; Takashima, Hiroshi H; Izumo, Shuji S; Watanabe, Toshiki T; Uchimaru, Kaoru K; Iwanaga, Masako M; Utsunomiya, Atae A; Tabara, Yasuharu Y; Paul, Richard R; Yamano, Yoshihisa Y; Matsuoka, Masao M; Matsuda, Fumihiko F

Publication Date: 2021-03-16

Variant appearance in text: rs3130573

PubMed Link: 33649182

Variant Present in the following documents:

• Main text

View BVdb publication page

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Robust Reference Powered Association Test of Genome-Wide Association Studies.

Frontiers In Genetics

Wang, Yi Y; Li, Yi Y; Hao, Meng M; Liu, Xiaoyu X; Zhang, Menghan M; Wang, Jiucun J; Xiong, Momiao M; Shugart, Yin Yao YY; Jin, Li L

Publication Date: 2019

Variant appearance in text: rs3130573

PubMed Link: 31024629

Variant Present in the following documents:

• Main text
• fgene-10-00319.pdf

View BVdb publication page

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Fine-mapping of HLA class I and class II genes identified two independent novel variants associated with nasopharyngeal carcinoma susceptibility.

Cancer Medicine

Wang, Tong-Min TM; Zhou, Ting T; He, Yong-Qiao YQ; Xue, Wen-Qiong WQ; Zhang, Jiang-Bo JB; Zheng, Xiao-Hui XH; Li, Xi-Zhao XZ; Zhang, Shao-Dan SD; Zeng, Yi-Xin YX; Jia, Wei-Hua WH

Publication Date: 2018-12

Variant appearance in text: rs3130573

PubMed Link: 30378292

Variant Present in the following documents:

• CAM4-7-6308-s006.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: rs3130573

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1

View BVdb publication page

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Discovering Genetic Factors for psoriasis through exhaustively searching for significant second order SNP-SNP interactions.

Scientific Reports

Lee, Kwan-Yeung KY; Leung, Kwong-Sak KS; Tang, Nelson L S NLS; Wong, Man-Hon MH

Publication Date: 2018-10-12

Variant appearance in text: rs3130573

PubMed Link: 30315195

Variant Present in the following documents:

• Main text

View BVdb publication page

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Alternate-locus aware variant calling in whole genome sequencing.

Genome Medicine

Jäger, Marten M; Schubach, Max M; Zemojtel, Tomasz T; Reinert, Knut K; Church, Deanna M DM; Robinson, Peter N PN

Publication Date: 2016-12-13

Variant appearance in text: rs3130573

PubMed Link: 27964746

Variant Present in the following documents:

• 13073_2016_383_MOESM1_ESM.pdf

View BVdb publication page

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Genetics, Epigenetics, and Genomics of Systemic Sclerosis.

Rheumatic Diseases Clinics Of North America

Salazar, Gloria G; Mayes, Maureen D MD

Publication Date: 2015-08

Variant appearance in text: rs3130573

PubMed Link: 26210123

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pathogenesis of Systemic Sclerosis.

Frontiers In Immunology

Pattanaik, Debendra D; Brown, Monica M; Postlethwaite, Bradley C BC; Postlethwaite, Arnold E AE

Publication Date: 2015

Variant appearance in text: rs3130573

PubMed Link: 26106387

Variant Present in the following documents:

• Main text

View BVdb publication page

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Recent advances in the genetics of systemic sclerosis: toward biological and clinical significance.

Current Rheumatology Reports

Korman, Benjamin D BD; Criswell, Lindsey A LA

Publication Date: 2015-03

Variant appearance in text: rs3130573

PubMed Link: 25777745

Variant Present in the following documents:

• Main text
• 11926_2014_Article_484.pdf

View BVdb publication page

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Systemic Sclerosis is a Complex Disease Associated Mainly with Immune Regulatory and Inflammatory Genes.

The Open Rheumatology Journal

Jin, Jingxiao J; Chou, Chou C; Lima, Maria M; Zhou, Danielle D; Zhou, Xiaodong X

Publication Date: 2014

Variant appearance in text: rs3130573

PubMed Link: 25328554

Variant Present in the following documents:

• Main text
• TORJ-8-29.pdf

View BVdb publication page

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Allele-specific network reveals combinatorial interaction that transcends small effects in psoriasis GWAS.

Plos Computational Biology

Climer, Sharlee S; Templeton, Alan R AR; Zhang, Weixiong W

Publication Date: 2014-09

Variant appearance in text: rs3130573

PubMed Link: 25233071

Variant Present in the following documents:

• Main text

View BVdb publication page

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GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.

Genes And Immunity

Armstrong, D L DL; Zidovetzki, R R; Alarcón-Riquelme, M E ME; Tsao, B P BP; Criswell, L A LA; Kimberly, R P RP; Harley, J B JB; Sivils, K L KL; Vyse, T J TJ; Gaffney, P M PM; Langefeld, C D CD; Jacob, C O CO

Publication Date: 2014-09

Variant appearance in text: rs3130573

PubMed Link: 24871463

Variant Present in the following documents:

• NIHMS583203-supplement-1.pdf

View BVdb publication page

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Host genetics and immune control of HIV-1 infection: fine mapping for the extended human MHC region in an African cohort.

Genes And Immunity

Prentice, H A HA; Pajewski, N M NM; He, D D; Zhang, K K; Brown, E E EE; Kilembe, W W; Allen, S S; Hunter, E E; Kaslow, R A RA; Tang, J J

Publication Date: 2014

Variant appearance in text: rs3130573

PubMed Link: 24784026

Variant Present in the following documents:

• NIHMS580846-supplement-1.xlsx, sheet 3
• NIHMS580846-supplement-1.xlsx, sheet 2

View BVdb publication page

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Confirmation of TNIP1 but not RHOB and PSORS1C1 as systemic sclerosis risk factors in a large independent replication study.

Annals Of The Rheumatic Diseases

Bossini-Castillo, Lara L; Martin, Jose Ezequiel JE; Broen, Jasper J; Simeon, Carmen P CP; Beretta, Lorenzo L; Gorlova, Olga Y OY; Vonk, Madelon C MC; Ortego-Centeno, Norberto N; Espinosa, Gerard G; Carreira, Patricia P; García de la Peña, Paloma P; Oreiro, Natividad N; Román-Ivorra, José Andrés JA; Castillo, María Jesús MJ; González-Gay, Miguel A MA; Sáez-Comet, Luis L; Castellví, Ivan I; Schuerwegh, Annemie J AJ; Voskuyl, Alexandre E AE; Hoffmann-Vold, Anna-Maria AM; Hesselstrand, Roger R; Nordin, Annika A; Lunardi, Claudio C; Scorza, Raffaella R; van Laar, Jacob M JM; Shiels, Paul G PG; Herrick, Ariane A; Worthington, Jane J; Fonseca, Carmen C; Denton, Christopher C; Tan, Filemon K FK; Arnett, Frank C FC; Assassi, Shervin S; Koeleman, Bobby P BP; Mayes, Maureen D MD; Radstake, Timothy R D J TR; Martin, Javier J; ,

Publication Date: 2013-04

Variant appearance in text: rs3130573

PubMed Link: 22896740

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis.

Plos Genetics

Allanore, Yannick Y; Saad, Mohamad M; Dieudé, Philippe P; Avouac, Jérôme J; Distler, Jorg H W JH; Amouyel, Philippe P; Matucci-Cerinic, Marco M; Riemekasten, Gabriella G; Airo, Paolo P; Melchers, Inga I; Hachulla, Eric E; Cusi, Daniele D; Wichmann, H-Erich HE; Wipff, Julien J; Lambert, Jean-Charles JC; Hunzelmann, Nicolas N; Tiev, Kiet K; Caramaschi, Paola P; Diot, Elisabeth E; Kowal-Bielecka, Otylia O; Valentini, Gabriele G; Mouthon, Luc L; Czirják, László L; Damjanov, Nemanja N; Salvi, Erika E; Conti, Costanza C; Müller, Martina M; Müller-Ladner, Ulf U; Riccieri, Valeria V; Ruiz, Barbara B; Cracowski, Jean-Luc JL; Letenneur, Luc L; Dupuy, Anne Marie AM; Meyer, Oliver O; Kahan, André A; Munnich, Arnold A; Boileau, Catherine C; Martinez, Maria M

Publication Date: 2011-07

Variant appearance in text: rs3130573

PubMed Link: 21750679

Variant Present in the following documents:

• Main text
• pgen.1002091.pdf

View BVdb publication page

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Haplotype-based search for SNPs associated with differential type 1 diabetes risk among chromosomes carrying a specific HLA DRB1-DQA1-DQB1 haplotype.

Diabetes, Obesity & Metabolism

McGinnis, R R; McLaren, W W; Ranganath, V V; Whittaker, P P; Hunt, S S; Deloukas, P P; ,

Publication Date: 2009-02

Variant appearance in text: rs3130573

PubMed Link: 19143810

Variant Present in the following documents:

• Main text

View BVdb publication page

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