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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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