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: rs780096

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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Genetic variants associated with inflammatory bowel disease and gut graft-versus-host disease.

Blood Advances

Martin, Paul J PJ; Storer, Barry E BE; Levine, David M DM; Hansen, John A JA

Publication Date: 2021-11-09

Variant appearance in text: rs780096

PubMed Link: 34535014

Variant Present in the following documents:

• Main text
• advancesADV2021004959.pdf

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Genetic Variants in Transcription Factor Binding Sites in Humans: Triggered by Natural Selection and Triggers of Diseases.

International Journal Of Molecular Sciences

Tseng, Chia-Chun CC; Wong, Man-Chun MC; Liao, Wei-Ting WT; Chen, Chung-Jen CJ; Lee, Su-Chen SC; Yen, Jeng-Hsien JH; Chang, Shun-Jen SJ

Publication Date: 2021-04-18

Variant appearance in text: rs780096

PubMed Link: 33919522

Variant Present in the following documents:

• Main text

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Editing GWAS: experimental approaches to dissect and exploit disease-associated genetic variation.

Genome Medicine

Rao, Shuquan S; Yao, Yao Y; Bauer, Daniel E DE

Publication Date: 2021-03-10

Variant appearance in text: rs780096

PubMed Link: 33691767

Variant Present in the following documents:

• Main text
• 13073_2021_Article_857.pdf

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Understanding the genetic architecture of the metabolically unhealthy normal weight and metabolically healthy obese phenotypes in a Korean population.

Scientific Reports

Park, Jae-Min JM; Park, Da-Hyun DH; Song, Youhyun Y; Kim, Jung Oh JO; Choi, Ja-Eun JE; Kwon, Yu-Jin YJ; Kim, Seong-Jin SJ; Lee, Ji-Won JW; Hong, Kyung-Won KW

Publication Date: 2021-01-26

Variant appearance in text: rs780096

PubMed Link: 33500527

Variant Present in the following documents:

• Main text
• 41598_2021_Article_81940.pdf

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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: rs780096

PubMed Link: 32879140

Variant Present in the following documents:

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

View BVdb publication page

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Functional Variant in the GCKR Gene Affects Lactate Levels Differentially in the Fasting State and During Hyperglycemia.

Scientific Reports

López Rodríguez, Maykel M; Fernandes Silva, Lilian L; Vangipurapu, Jagadish J; Modi, Shalem S; Kuusisto, Johanna J; Kaikkonen, Minna U MU; Laakso, Markku M

Publication Date: 2018-10-30

Variant appearance in text: rs780096

PubMed Link: 30375486

Variant Present in the following documents:

• Main text
• 41598_2018_Article_34501.pdf

View BVdb publication page

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Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects.

American Journal Of Human Genetics

Medina-Gomez, Carolina C; Kemp, John P JP; Trajanoska, Katerina K; Luan, Jian'an J; Chesi, Alessandra A; Ahluwalia, Tarunveer S TS; Mook-Kanamori, Dennis O DO; Ham, Annelies A; Hartwig, Fernando P FP; Evans, Daniel S DS; Joro, Raimo R; Nedeljkovic, Ivana I; Zheng, Hou-Feng HF; Zhu, Kun K; Atalay, Mustafa M; Liu, Ching-Ti CT; Nethander, Maria M; Broer, Linda L; Porleifsson, Gudmar G; Mullin, Benjamin H BH; Handelman, Samuel K SK; Nalls, Mike A MA; Jessen, Leon E LE; Heppe, Denise H M DHM; Richards, J Brent JB; Wang, Carol C; Chawes, Bo B; Schraut, Katharina E KE; Amin, Najaf N; Wareham, Nick N; Karasik, David D; Van der Velde, Nathalie N; Ikram, M Arfan MA; Zemel, Babette S BS; Zhou, Yanhua Y; Carlsson, Christian J CJ; Liu, Yongmei Y; McGuigan, Fiona E FE; Boer, Cindy G CG; Bønnelykke, Klaus K; Ralston, Stuart H SH; Robbins, John A JA; Walsh, John P JP; Zillikens, M Carola MC; Langenberg, Claudia C; Li-Gao, Ruifang R; Williams, Frances M K FMK; Harris, Tamara B TB; Akesson, Kristina K; Jackson, Rebecca D RD; Sigurdsson, Gunnar G; den Heijer, Martin M; van der Eerden, Bram C J BCJ; van de Peppel, Jeroen J; Spector, Timothy D TD; Pennell, Craig C; Horta, Bernardo L BL; Felix, Janine F JF; Zhao, Jing Hua JH; Wilson, Scott G SG; de Mutsert, Renée R; Bisgaard, Hans H; Styrkársdóttir, Unnur U; Jaddoe, Vincent W VW; Orwoll, Eric E; Lakka, Timo A TA; Scott, Robert R; Grant, Struan F A SFA; Lorentzon, Mattias M; van Duijn, Cornelia M CM; Wilson, James F JF; Stefansson, Kari K; Psaty, Bruce M BM; Kiel, Douglas P DP; Ohlsson, Claes C; Ntzani, Evangelia E; van Wijnen, Andre J AJ; Forgetta, Vincenzo V; Ghanbari, Mohsen M; Logan, John G JG; Williams, Graham R GR; Bassett, J H Duncan JHD; Croucher, Peter I PI; Evangelou, Evangelos E; Uitterlinden, Andre G AG; Ackert-Bicknell, Cheryl L CL; Tobias, Jonathan H JH; Evans, David M DM; Rivadeneira, Fernando F

Publication Date: 2018-01-04

Variant appearance in text: rs780096

PubMed Link: 29304378

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification and characterization of a FOXA2-regulated transcriptional enhancer at a type 2 diabetes intronic locus that controls GCKR expression in liver cells.

Genome Medicine

López Rodríguez, Maykel M; Kaminska, Dorota D; Lappalainen, Kati K; Pihlajamäki, Jussi J; Kaikkonen, Minna U MU; Laakso, Markku M

Publication Date: 2017-07-06

Variant appearance in text: rs780096

PubMed Link: 28683826

Variant Present in the following documents:

• Main text
• 13073_2017_Article_453.pdf

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Genome-wide association study of clinically defined gout identifies multiple risk loci and its association with clinical subtypes.

Annals Of The Rheumatic Diseases

Matsuo, Hirotaka H; Yamamoto, Ken K; Nakaoka, Hirofumi H; Nakayama, Akiyoshi A; Sakiyama, Masayuki M; Chiba, Toshinori T; Takahashi, Atsushi A; Nakamura, Takahiro T; Nakashima, Hiroshi H; Takada, Yuzo Y; Danjoh, Inaho I; Shimizu, Seiko S; Abe, Junko J; Kawamura, Yusuke Y; Terashige, Sho S; Ogata, Hiraku H; Tatsukawa, Seishiro S; Yin, Guang G; Okada, Rieko R; Morita, Emi E; Naito, Mariko M; Tokumasu, Atsumi A; Onoue, Hiroyuki H; Iwaya, Keiichi K; Ito, Toshimitsu T; Takada, Tappei T; Inoue, Katsuhisa K; Kato, Yukio Y; Nakamura, Yukio Y; Sakurai, Yutaka Y; Suzuki, Hiroshi H; Kanai, Yoshikatsu Y; Hosoya, Tatsuo T; Hamajima, Nobuyuki N; Inoue, Ituro I; Kubo, Michiaki M; Ichida, Kimiyoshi K; Ooyama, Hiroshi H; Shimizu, Toru T; Shinomiya, Nariyoshi N

Publication Date: 2016-04

Variant appearance in text: rs780096

PubMed Link: 25646370

Variant Present in the following documents:

• annrheumdis-2014-206191-s1.pdf

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