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Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase Micale, Lucia; Fusco, Carmela; Augello, Bartolomeo; Napolitano, Luisa M. R.; ... Reymond, Alexandre 2008
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Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31 Villanueva, Adda; Willer, Jason R; Bryois, Julien; Dermitzakis, Emmanouil; ... Davis, Erica E 2014
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Using gene expression to investigate the genetic basis of complex disorders Nica, Alexandra; Dermitzakis, Emmanouil 2008
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Using an atlas of gene regulation across 44 human tissues to inform complex disease- and trait-associated variation Gamazon, Eric R.; Segrè, Ayellet V.; van de Bunt, Martijn; Wen, Xiaoquan; ... Ardlie, Kristin G. 2018
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Transcriptomic analyses reveal rhythmic and CLOCK-driven pathways in human skeletal muscle Perrin, Laurent; Loizides-Mangold, Ursula; Chanon, Stéphanie; Gobet, Cédric; ... Dibner, Charna 2018
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Transcriptome genetics using second generation sequencing in a Caucasian population Montgomery, S. B.; Sammeth, Micha; Gutierrez-Arcelus, Maria; Lach, R. P.; ... Dermitzakis, Emmanouil 2010
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Transcriptome and genome sequencing uncovers functional variation in humans Lappalainen, Tuuli Emilia; Giger, Thomas; Padioleau, Ismael; Ongen, Halit; ... Dermitzakis, Emmanouil 2013
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Transcript Expression Data from Human Islets Links Regulatory Signals from Genome-Wide Association Studies for Type 2 Diabetes and Glycemic Traits to Their Downstream Effectors van de Bunt, Martijn; Manning Fox, Jocelyn E; Dai, Xiaoqing; Barrett, Amy; ... Gloyn, Anna L 2015
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Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing Gutierrez Arcelus, Maria; Ongen, Halit; Lappalainen, Tuuli Emilia; Montgomery, Stephen; ... Dermitzakis, Emmanouil 2015
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Time-dependent genetic effects on gene expression implicate aging processes Bryois, Julien; Buil Demur, Alfonso Alberto; Ferreira, Pedro; Panousis, Nikolaos; ... Dermitzakis, Emmanouil 2017
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The transcriptome of equine peripheral blood mononuclear cells Pacholewska, Alicja; Drögemüller, Michaela; Klukowska-Rötzler, Jolanta; Lanz, Simone; ... Jagannathan, Vidhya 2015
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The resolution of the genetics of gene expression Montgomery, S. B.; Dermitzakis, Emmanouil 2009
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The non-coding variant rs1800734 enhances DCLK3 expression through long-range interaction and promotes colorectal cancer progression Liu, Ning Qing; ter Huurne, Menno; Nguyen, Luan N.; Peng, Tianran; ... Stunnenberg, Hendrik G. 2017
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The genomic landscape of human cellular circadian variation points to a novel role for the signalosome Gaspar, Ludmila; Howald, Cédric; Popadin, Konstantin; Maier, Bert; ... Brown, Steven A 2017
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The functional impact of structural variation in humans Hurles, Matthew E.; Dermitzakis, Emmanouil; Tyler-Smith, Chris 2008
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The effect of genetic variation on promoter usage and enhancer activity Garieri, Marco; Delaneau, Olivier; Santoni, Federico; Fish, Richard; ... Fort, Alexandre 2017
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The Brisbane Systems Genetics Study: genetical genomics meets complex trait genetics Powell, Joseph E; Henders, Anjali K; McRae, Allan F; Caracella, Anthony; ... Montgomery, Grant W 2012
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The architecture of gene regulatory variation across multiple human tissues: the MuTHER study Nica, Alexandra; Parts, Leopold; Glass, Daniel; Nisbet, James; ... Spector, Timothy D 2011
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Tandem RNA chimeras contribute to transcriptome diversity in human population and are associated with intronic genetic variants Greger, Liliana; Su, Jing; Rung, Johan; Ferreira Marinheiro, Pedro; ... Brazma, Alvis 2014
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Tandem repeat sequence variation as causative cis-eQTLs for protein-coding gene expression variation: the case of CSTB. Borel, Christelle; Migliavacca Voeffray, Eugenia Linda; Letourneau, Audrey; Gagnebin, Maryline; ... Antonarakis, Stylianos 2012
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Tandem chimerism as a means to increase protein complexity in the human genome Parra, Genis; Reymond, Alexandre; Dabbouseh, Noura; Dermitzakis, Emmanouil; ... Guigo, Roderic 2006
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SNHG16 is regulated by the Wnt pathway in colorectal cancer and affects genes involved in lipid metabolism Christensen, Lise Lotte; True, Kirsten; Hamilton, Mark P.; Nielsen, Morten M.; ... Andersen, Claus L. 2016
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Short Term Exposure of Beta Cells to Low Concentrations of Interleukin-1β Improves Insulin Secretion through Focal Adhesion and Actin Remodeling and Regulation of Gene Expression Arous, Caroline; Ferreira, Pedro G; Dermitzakis, Emmanouil; Halban, Philippe A. 2015
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Sex-biased genetic effects on gene regulation in humans Dima, Antigoni; Nica, Alexandra; Montgomery, Stephen; Stranger, Barbara E; ... Dermitzakis, Emmanouil 2012
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Sequential transcriptional waves direct the differentiation of newborn neurons in the mouse neocortex Telley, Ludovic; Govindan, Subashika; Prados, Julien; Stevant, Isabelle; ... Jabaudon, Denis 2016
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Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories 't Hoen, Peter A C; Friedländer, Marc R; Almlöf, Jonas; Sammeth, Michael; ... Lappalainen, Tuuli 2013
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Regulatory variation and evolution: implications for disease Dermitzakis, Emmanouil 2008
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Rare and common regulatory variation in population-scale sequenced human genomes Montgomery, Stephen; Lappalainen, Tuuli Emilia; Gutierrez Arcelus, Maria; Dermitzakis, Emmanouil 2011
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Quantitative variability of 342 plasma proteins in a human twin population Liu, Yansheng; Buil Demur, Alfonso Alberto; Collins, Ben C; Gillet, Ludovic C J; ... Aebersold, Ruedi 2015
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Putative cis-regulatory drivers in colorectal cancer Ongen, Halit; Andersen, Claus L; Bramsen, Jesper B; Oster, Bodil; ... Dermitzakis, Emmanouil 2014
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Predicting causal variants affecting expression by using whole-genome sequencing and RNA-seq from multiple human tissues Brown, Andrew Anand; Vinuela Rodriguez, Ana; Delaneau, Olivier; Spector, Tim D; ... Dermitzakis, Emmanouil 2017
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Population Variation and Genetic Control of Modular Chromatin Architecture in Humans Waszak, Sebastian M; Delaneau, Olivier; Gschwind, Andreas R; Kilpinen, Leena Helena; ... Dermitzakis, Emmanouil 2015
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Polymorphisms in the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with variation in vertebral bone mass, vertebral bone size, and stature in whites Ferrari, Serge Livio; Deutsch, Samuel; Choudhury, Urmila; Chevalley, Thierry; ... Antonarakis, Stylianos 2004
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Patterns of cis regulatory variation in diverse human populations Stranger, Barbara E; Montgomery, Stephen; Dima, Antigoni; Parts, Leopold; ... Dermitzakis, Emmanouil 2012
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Passive and active DNA methylation and the interplay with genetic variation in gene regulation Gutierrez Arcelus, Maria; Lappalainen, Tuuli Emilia; Montgomery, Stephen; Buil Demur, Alfonso Alberto; ... Dermitzakis, Emmanouil 2013
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Numerous potentially functional but non-genic conserved sequences on human chromosome 21 Dermitzakis, Emmanouil; Reymond, Alexandre; Lyle, Robert; Scamuffa, Nathalie; ... Antonarakis, Stylianos 2002
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Non-CpG island promoter hypomethylation and miR-149 regulate the expression of SRPX2 in colorectal cancer Øster, Bodil; Linnet, Lene; Christensen, Lise Lotte; Thorsen, Kasper; ... Andersen, Claus L. 2013
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MRPL53, a new candidate gene for orofacial clefting, identified using an eQTL approach Masotti, C.; Brito, L.A.; Nica, A.C.; Ludwig, K.U.; ... Passos-Bueno, M.R. 2018
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Molecular-Subtype-Specific Biomarkers Improve Prediction of Prognosis in Colorectal Cancer Bramsen, Jesper Bertram; Rasmussen, Mads Heilskov; Ongen, Halit; Mattesen, Trine Block; ... Andersen, Claus Lindbjerg 2017
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Modifier effects between regulatory and protein-coding variation Dimas, Antigone S.; Stranger, Barbara E.; Beazley, Claude; Finn, Robert D.; ... Dermitzakis, Emmanouil 2008
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Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33 Dermitzakis, Emmanouil 2010
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Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size Soranzo, Nicole; Rivadeneira, Fernando; Chinappen-Horsley, Usha; Nica, Alexandra; ... Deloukas, P. 2009
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MBV: a method to solve sample mislabeling and detect technical bias in large combined genotype and sequencing assay datasets Fort, Alexandre; Panousis, Nikolaos; Garieri, Marco; Antonarakis, Stylianos; ... Delaneau, Olivier 2017
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Mapping eQTLs with RNA-seq reveals novel susceptibility genes, non-coding RNAs and alternative-splicing events in systemic lupus erythematosus Odhams, Christopher A.; Cortini, Andrea; Chen, Lingyan; Roberts, Amy L.; ... Cunninghame Graham, Deborah S. 2017
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Mapping cis- and trans-regulatory effects across multiple tissues in twins Nica, Alexandra; Buil Demur, Alfonso Alberto; Dima, Antigoni; Montgomery, Stephen; Dermitzakis, Emmanouil 2012
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Long- and short-term selective forces on malaria parasite genomes Nygaard, Sanne; Braunstein, Alexander; Malsen, Gareth; Van Dongen, Stijn; ... Jeffares, Daniel C. 2010
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Large-scale population study of human cell lines indicates that dosage compensation is virtually complete Johnston, Colette M.; Lovell, Frances L.; Leongamornlert, Daniel A.; Stranger, Barbara E.; ... Ross, Mark T. 2008
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Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance Lotta, Luca A; Gulati, Pawan; Day, Felix R; Payne, Felicity; ... Scott, Robert A 2017
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Integrative annotation of variants from 1092 humans: application to cancer genomics Lappalainen, Tuuli Emilia; Dermitzakis, Emmanouil 2013
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Integrated analysis of mRNA and miRNA expression in response to interleukin-6 in hepatocytes Lukowski, Samuel; Fish, Richard; Martin-Levilain, Juliette; Gonelle-Gispert, Carmen; ... Neerman Arbez, Marguerite 2015
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