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: rs477992

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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Crosstalk between Host Genome and Metabolome among People with HIV in South Africa.

Metabolites

Liu, Chang C; Wang, Zicheng Z; Hui, Qin Q; Chiang, Yiyun Y; Chen, Junyu J; Brijkumar, Jaysingh J; Edwards, Johnathan A JA; Ordonez, Claudia E CE; Dudgeon, Mathew R MR; Sunpath, Henry H; Pillay, Selvan S; Moodley, Pravi P; Kuritzkes, Daniel R DR; Moosa, Mohamed Y S MYS; Jones, Dean P DP; Marconi, Vincent C VC; Sun, Yan V YV

Publication Date: 2022-07-06

Variant appearance in text: rs477992

PubMed Link: 35888748

Variant Present in the following documents:

• metabolites-12-00624.pdf

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Genetic disruption of serine biosynthesis is a key driver of macular telangiectasia type 2 aetiology and progression.

Genome Medicine

Bonelli, Roberto R; Ansell, Brendan R E BRE; Lotta, Luca L; Scerri, Thomas T; Clemons, Traci E TE; Leung, Irene I; , ; Peto, Tunde T; Bird, Alan C AC; Sallo, Ferenc B FB; Langenberg, Claudia C; Bahlo, Melanie M

Publication Date: 2021-03-09

Variant appearance in text: rs477992

PubMed Link: 33750426

Variant Present in the following documents:

• Main text
• 13073_2021_Article_848.pdf

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Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder.

Communications Biology

Bonelli, Roberto R; Jackson, Victoria E VE; Prasad, Aravind A; Munro, Jacob E JE; Farashi, Samaneh S; Heeren, Tjebo F C TFC; Pontikos, Nikolas N; Scheppke, Lea L; Friedlander, Martin M; , ; Egan, Catherine A CA; Allikmets, Rando R; Ansell, Brendan R E BRE; Bahlo, Melanie M

Publication Date: 2021-03-02

Variant appearance in text: rs477992

PubMed Link: 33654266

Variant Present in the following documents:

• Main text
• 42003_2021_Article_1788.pdf

View BVdb publication page

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Systemic lipid dysregulation is a risk factor for macular neurodegenerative disease.

Scientific Reports

Bonelli, Roberto R; Woods, Sasha M SM; Ansell, Brendan R E BRE; Heeren, Tjebo F C TFC; Egan, Catherine A CA; Khan, Kamron N KN; Guymer, Robyn R; Trombley, Jennifer J; Friedlander, Martin M; Bahlo, Melanie M; Fruttiger, Marcus M

Publication Date: 2020-07-22

Variant appearance in text: rs477992

PubMed Link: 32699277

Variant Present in the following documents:

• Main text
• 41598_2020_Article_69164.pdf

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Proteomic and Metabolomic Correlates of Healthy Dietary Patterns: The Framingham Heart Study.

Nutrients

Walker, Maura E ME; Song, Rebecca J RJ; Xu, Xiang X; Gerszten, Robert E RE; Ngo, Debby D; Clish, Clary B CB; Corlin, Laura L; Ma, Jiantao J; Xanthakis, Vanessa V; Jacques, Paul F PF; Vasan, Ramachandran S RS

Publication Date: 2020-05-19

Variant appearance in text: rs477992

PubMed Link: 32438708

Variant Present in the following documents:

• Main text
• nutrients-12-01476.pdf

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A network-based conditional genetic association analysis of the human metabolome.

Gigascience

Tsepilov, Y A YA; Sharapov, S Z SZ; Zaytseva, O O OO; Krumsiek, J J; Prehn, C C; Adamski, J J; Kastenmüller, G G; Wang-Sattler, R R; Strauch, K K; Gieger, C C; Aulchenko, Y S YS

Publication Date: 2018-12-01

Variant appearance in text: rs477992

PubMed Link: 30496450

Variant Present in the following documents:

• Main text

View BVdb publication page

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The impact of common genetic variants in the mitochondrial glycine cleavage system on relevant metabolites.

Molecular Genetics And Metabolism Reports

O'Reilly, Jessica J; Pangilinan, Faith F; Hokamp, Karsten K; Ueland, Per M PM; Brosnan, John T JT; Brosnan, Margaret E ME; Brody, Lawrence C LC; Molloy, Anne M AM

Publication Date: 2018-09

Variant appearance in text: rs477992

PubMed Link: 29988937

Variant Present in the following documents:

• Main text
• main.pdf

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Covariate selection for association screening in multiphenotype genetic studies.

Nature Genetics

Aschard, Hugues H; Guillemot, Vincent V; Vilhjalmsson, Bjarni B; Patel, Chirag J CJ; Skurnik, David D; Ye, Chun J CJ; Wolpin, Brian B; Kraft, Peter P; Zaitlen, Noah N

Publication Date: 2017-12

Variant appearance in text: rs477992

PubMed Link: 29038595

Variant Present in the following documents:

• Main text
• NIHMS908080-supplement-1.pdf

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A genome-wide association study of the human metabolome in a community-based cohort.

Cell Metabolism

Rhee, Eugene P EP; Ho, Jennifer E JE; Chen, Ming-Huei MH; Shen, Dongxiao D; Cheng, Susan S; Larson, Martin G MG; Ghorbani, Anahita A; Shi, Xu X; Helenius, Iiro T IT; O'Donnell, Christopher J CJ; Souza, Amanda L AL; Deik, Amy A; Pierce, Kerry A KA; Bullock, Kevin K; Walford, Geoffrey A GA; Vasan, Ramachandran S RS; Florez, Jose C JC; Clish, Clary C; Yeh, J-R Joanna JR; Wang, Thomas J TJ; Gerszten, Robert E RE

Publication Date: 2013-07-02

Variant appearance in text: rs477992

PubMed Link: 23823483

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variants associated with glycine metabolism and their role in insulin sensitivity and type 2 diabetes.

Diabetes

Xie, Weijia W; Wood, Andrew R AR; Lyssenko, Valeriya V; Weedon, Michael N MN; Knowles, Joshua W JW; Alkayyali, Sami S; Assimes, Themistocles L TL; Quertermous, Thomas T; Abbasi, Fahim F; Paananen, Jussi J; Häring, Hans H; Hansen, Torben T; Pedersen, Oluf O; Smith, Ulf U; Laakso, Markku M; , ; , ; , ; , ; Dekker, Jacqueline M JM; Nolan, John J JJ; Groop, Leif L; Ferrannini, Ele E; Adam, Klaus-Peter KP; Gall, Walter E WE; Frayling, Timothy M TM; Walker, Mark M

Publication Date: 2013-06

Variant appearance in text: rs477992

PubMed Link: 23378610

Variant Present in the following documents:

• Main text
• 2141.pdf

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Genetic determinants of metabolism in health and disease: from biochemical genetics to genome-wide associations.

Genome Medicine

Robinette, Steven L SL; Holmes, Elaine E; Nicholson, Jeremy K JK; Dumas, Marc E ME

Publication Date: 2012-04-30

Variant appearance in text: rs477992

PubMed Link: 22546284

Variant Present in the following documents:

• Main text
• gm329.pdf

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Human metabolic individuality in biomedical and pharmaceutical research.

Nature

Suhre, Karsten K; Shin, So-Youn SY; Petersen, Ann-Kristin AK; Mohney, Robert P RP; Meredith, David D; Wägele, Brigitte B; Altmaier, Elisabeth E; , ; Deloukas, Panos P; Erdmann, Jeanette J; Grundberg, Elin E; Hammond, Christopher J CJ; de Angelis, Martin Hrabé MH; Kastenmüller, Gabi G; Köttgen, Anna A; Kronenberg, Florian F; Mangino, Massimo M; Meisinger, Christa C; Meitinger, Thomas T; Mewes, Hans-Werner HW; Milburn, Michael V MV; Prehn, Cornelia C; Raffler, Johannes J; Ried, Janina S JS; Römisch-Margl, Werner W; Samani, Nilesh J NJ; Small, Kerrin S KS; Wichmann, H-Erich HE; Zhai, Guangju G; Illig, Thomas T; Spector, Tim D TD; Adamski, Jerzy J; Soranzo, Nicole N; Gieger, Christian C

Publication Date: 2011-08-31

Variant appearance in text: rs477992

PubMed Link: 21886157

Variant Present in the following documents:

• Main text

View BVdb publication page

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