Publications:

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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: rs9272723

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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Both HLA class I and II regions identified as genome-wide significant susceptibility loci for adult-onset Still's disease in Chinese individuals.

Annals Of The Rheumatic Diseases

Li, Zhiqiang Z; Liu, Hong-Lei HL; Chen, Jianhua J; Zeng, Ting T; He, Lin L; Li, Meihang M; Luo, Cainan C; Liu, Shuang S; Ding, Ting-Ting TT; Yimaiti, Kuerbanjiang K; Teng, Jialin J; Li, Xingwang X; Ding, Yonghe Y; Cheng, Xiaobing X; Zhou, Juan J; Ye, Junna J; Ji, Jue J; Su, Yu-Tong YT; Shi, Hui H; Sun, Yue Y; Gao, Chengwen C; Hu, Qiongyi Q; Chi, Huihui H; Yuan, Xuan X; Zhou, Zhuochao Z; Wang, Dong D; Wang, Ke K; Li, Chang-Gui CG; Sun, Yuanchao Y; Niu, Yujuan Y; Chen, Lin-Jie LJ; Xu, Jian J; Wu, Lijun L; Zhou, Zhaowei Z; Pan, Dun D; Niu, Haitao H; Shi, Yongyong Y; Yang, Chengde C

Publication Date: 2020-01

Variant appearance in text: rs9272723

PubMed Link: 31471296

Variant Present in the following documents:

• annrheumdis-2019-215239supp001.pdf

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Revisiting aneuploidy profile of surgically retrieved spermatozoa by whole exome sequencing molecular karyotype.

Plos One

Cheung, Stephanie S; Schlegel, Peter N PN; Rosenwaks, Zev Z; Palermo, Gianpiero D GD

Publication Date: 2019

Variant appearance in text: HLA-DQA1: 331+92T>C

PubMed Link: 30608972

Variant Present in the following documents:

• pone.0210079.s007.xlsx, sheet 21
• pone.0210079.s007.xlsx, sheet 18
• pone.0210079.s007.xlsx, sheet 4
• pone.0210079.s007.xlsx, sheet 3
• pone.0210079.s007.xlsx, sheet 22
• pone.0210079.s007.xlsx, sheet 20
• pone.0210079.s007.xlsx, sheet 19

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Large-scale, multiethnic genome-wide association study identifies novel loci contributing to asthma susceptibility in adults.

The Journal Of Allergy And Clinical Immunology

Dahlin, Amber A; Sordillo, Joanne E JE; Ziniti, John J; Iribarren, Carlos C; Lu, Meng M; Weiss, Scott T ST; Tantisira, Kelan G KG; Lu, Quan Q; Kan, Mengyuan M; Himes, Blanca E BE; Jorgenson, Eric E; Wu, Ann Chen AC

Publication Date: 2019-04

Variant appearance in text: rs9272723

PubMed Link: 30578877

Variant Present in the following documents:

• Main text

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs9272723

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

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Assessing statistical significance in multivariable genome wide association analysis.

Bioinformatics (Oxford, England)

Buzdugan, Laura L; Kalisch, Markus M; Navarro, Arcadi A; Schunk, Daniel D; Fehr, Ernst E; Bühlmann, Peter P

Publication Date: 2016-07-01

Variant appearance in text: rs9272723

PubMed Link: 27153677

Variant Present in the following documents:

• Main text
• btw128.pdf

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Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE): a genetic association study in UK Biobank.

The Lancet. Respiratory Medicine

Wain, Louise V LV; Shrine, Nick N; Miller, Suzanne S; Jackson, Victoria E VE; Ntalla, Ioanna I; Soler Artigas, María M; Billington, Charlotte K CK; Kheirallah, Abdul Kader AK; Allen, Richard R; Cook, James P JP; Probert, Kelly K; Obeidat, Ma'en M; Bossé, Yohan Y; Hao, Ke K; Postma, Dirkje S DS; Paré, Peter D PD; Ramasamy, Adaikalavan A; , ; Mägi, Reedik R; Mihailov, Evelin E; Reinmaa, Eva E; Melén, Erik E; O'Connell, Jared J; Frangou, Eleni E; Delaneau, Olivier O; , ; Freeman, Colin C; Petkova, Desislava D; McCarthy, Mark M; Sayers, Ian I; Deloukas, Panos P; Hubbard, Richard R; Pavord, Ian I; Hansell, Anna L AL; Thomson, Neil C NC; Zeggini, Eleftheria E; Morris, Andrew P AP; Marchini, Jonathan J; Strachan, David P DP; Tobin, Martin D MD; Hall, Ian P IP

Publication Date: 2015-10

Variant appearance in text: rs9272723

PubMed Link: 26423011

Variant Present in the following documents:

• mmc1.pdf

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Combination Testing Using a Single MSH5 Variant alongside HLA Haplotypes Improves the Sensitivity of Predicting Coeliac Disease Risk in the Polish Population.

Plos One

Paziewska, Agnieszka A; Cukrowska, Bozena B; Dabrowska, Michalina M; Goryca, Krzysztof K; Piatkowska, Magdalena M; Kluska, Anna A; Mikula, Michal M; Karczmarski, Jakub J; Oralewska, Beata B; Rybak, Anna A; Socha, Jerzy J; Balabas, Aneta A; Zeber-Lubecka, Natalia N; Ambrozkiewicz, Filip F; Konopka, Ewa E; Trojanowska, Ilona I; Zagroba, Malgorzata M; Szperl, Malgorzata M; Ostrowski, Jerzy J

Publication Date: 2015

Variant appearance in text: rs9272723

PubMed Link: 26406233

Variant Present in the following documents:

• Main text

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GWGGI: software for genome-wide gene-gene interaction analysis.

Bmc Genetics

Wei, Changshuai C; Lu, Qing Q

Publication Date: 2014-10-16

Variant appearance in text: rs9272723

PubMed Link: 25318532

Variant Present in the following documents:

• Main text
• 12863_2014_Article_101.pdf

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Genome-wide association study of antiphospholipid antibodies.

Autoimmune Diseases

Kamboh, M Ilyas MI; Wang, Xingbin X; Kao, Amy H AH; Barmada, Michael M MM; Clarke, Ann A; Ramsey-Goldman, Rosalind R; Manzi, Susan S; Demirci, F Yesim FY

Publication Date: 2013

Variant appearance in text: rs9272723

PubMed Link: 23509613

Variant Present in the following documents:

• Main text
• AD2013-761046.pdf

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Ultrahigh-dimensional variable selection method for whole-genome gene-gene interaction analysis.

Bmc Bioinformatics

Ueki, Masao M; Tamiya, Gen G

Publication Date: 2012-05-03

Variant appearance in text: rs9272723

PubMed Link: 22554139

Variant Present in the following documents:

• Main text

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A genome-wide homozygosity association study identifies runs of homozygosity associated with rheumatoid arthritis in the human major histocompatibility complex.

Plos One

Yang, Hsin-Chou HC; Chang, Lun-Ching LC; Liang, Yu-Jen YJ; Lin, Chien-Hsing CH; Wang, Pei-Li PL

Publication Date: 2012

Variant appearance in text: rs9272723

PubMed Link: 22536334

Variant Present in the following documents:

• Main text
• pone.0034840.pdf

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HLA-DRB1 reduces the risk of type 2 diabetes mellitus by increased insulin secretion.

Diabetologia

Williams, R C RC; Muller, Y L YL; Hanson, R L RL; Knowler, W C WC; Mason, C C CC; Bian, L L; Ossowski, V V; Wiedrich, K K; Chen, Y F YF; Marcovina, S S; Hahnke, J J; Nelson, R G RG; Baier, L J LJ; Bogardus, C C

Publication Date: 2011-07

Variant appearance in text: rs9272723

PubMed Link: 21484216

Variant Present in the following documents:

• Main text

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Genome-wide association analysis in primary sclerosing cholangitis identifies two non-HLA susceptibility loci.

Nature Genetics

Melum, Espen E; Franke, Andre A; Schramm, Christoph C; Weismüller, Tobias J TJ; Gotthardt, Daniel Nils DN; Offner, Felix A FA; Juran, Brian D BD; Laerdahl, Jon K JK; Labi, Verena V; Björnsson, Einar E; Weersma, Rinse K RK; Henckaerts, Liesbet L; Teufel, Andreas A; Rust, Christian C; Ellinghaus, Eva E; Balschun, Tobias T; Boberg, Kirsten Muri KM; Ellinghaus, David D; Bergquist, Annika A; Sauer, Peter P; Ryu, Euijung E; Hov, Johannes Roksund JR; Wedemeyer, Jochen J; Lindkvist, Björn B; Wittig, Michael M; Porte, Robert J RJ; Holm, Kristian K; Gieger, Christian C; Wichmann, H-Erich HE; Stokkers, Pieter P; Ponsioen, Cyriel Y CY; Runz, Heiko H; Stiehl, Adolf A; Wijmenga, Cisca C; Sterneck, Martina M; Vermeire, Severine S; Beuers, Ulrich U; Villunger, Andreas A; Schrumpf, Erik E; Lazaridis, Konstantinos N KN; Manns, Michael P MP; Schreiber, Stefan S; Karlsen, Tom H TH

Publication Date: 2011-01

Variant appearance in text: rs9272723

PubMed Link: 21151127

Variant Present in the following documents:

• Main text

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Identifying main effects and epistatic interactions from large-scale SNP data via adaptive group Lasso.

Bmc Bioinformatics

Yang, Can C; Wan, Xiang X; Yang, Qiang Q; Xue, Hong H; Yu, Weichuan W

Publication Date: 2010-01-18

Variant appearance in text: rs9272723

PubMed Link: 20122189

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pathway analysis of GWAS provides new insights into genetic susceptibility to 3 inflammatory diseases.

Plos One

Eleftherohorinou, Hariklia H; Wright, Victoria V; Hoggart, Clive C; Hartikainen, Anna-Liisa AL; Jarvelin, Marjo-Riitta MR; Balding, David D; Coin, Lachlan L; Levin, Michael M

Publication Date: 2009-11-30

Variant appearance in text: rs9272723

PubMed Link: 19956648

Variant Present in the following documents:

• Main text

View BVdb publication page

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Interpreting genetics of gene expression: integrative architecture in Bioconductor.

Pacific Symposium On Biocomputing. Pacific Symposium On Biocomputing

Carey, V J VJ; Gentleman, R R

Publication Date: 2009

Variant appearance in text: rs9272723

PubMed Link: 19209716

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comparison of tagging single-nucleotide polymorphism methods in association analyses.

Bmc Proceedings

Goode, Ellen L EL; Fridley, Brooke L BL; Sun, Zhifu Z; Atkinson, Elizabeth J EJ; Nord, Alex S AS; McDonnell, Shannon K SK; Jarvik, Gail P GP; de Andrade, Mariza M; Slager, Susan L SL

Publication Date: 2007

Variant appearance in text: rs9272723

PubMed Link: 18466560

Variant Present in the following documents:

• 1753-6561-1-S1-S6.pdf

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Genetic mapping at 3-kilobase resolution reveals inositol 1,4,5-triphosphate receptor 3 as a risk factor for type 1 diabetes in Sweden.

American Journal Of Human Genetics

Roach, Jared C JC; Deutsch, Kerry K; Li, Sarah S; Siegel, Andrew F AF; Bekris, Lynn M LM; Einhaus, Derek C DC; Sheridan, Colleen M CM; Glusman, Gustavo G; Hood, Leroy L; Lernmark, Ake A; Janer, Marta M; , ; ,

Publication Date: 2006-10

Variant appearance in text: rs9272723

PubMed Link: 16960798

Variant Present in the following documents:

• Main text

View BVdb publication page

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