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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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Human chromosome 21 gene expression atlas in the mouse Reymond, Alexandre; Marigo, Valeria; Yaylaoglu, M. B.; Leoni, Antonio; ... Ballabio, Andrea 2002
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Chromosome 21 and Down syndrome: the post-sequence era Antonarakis, Stylianos; Reymond, Alexandre; Lyle, Robert; Deutsch, Samuel; Dermitzakis, Emmanouil 2003
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Evolutionary discrimination of mammalian conserved non-genic sequences (CNGs) Dermitzakis, Emmanouil; Reymond, Alexandre; Scamuffa, Nathalie; Ucla, Catherine; ... Antonarakis, Stylianos 2003
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Comparison of mouse and human genomes followed by experimental verification yields an estimated 1,019 additional genes Guigo, Roderic; Dermitzakis, Emmanouil; Agarwal, Pankaj; Ponting, C. P.; ... Brent, M. R. 2003
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Chromosome 21 and down syndrome: from genomics to pathophysiology Antonarakis, Stylianos; Lyle, Robert; Dermitzakis, Emmanouil; Reymond, Alexandre; Deutsch, Samuel 2004
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Comparison of human chromosome 21 conserved nongenic sequences (CNGs) with the mouse and dog genomes shows that their selective constraint is independent of their genic environment Dermitzakis, Emmanouil; Kirkness, Ewen; Schwarz, Scott; Birney, Ewan; ... Antonarakis, Stylianos 2004
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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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Evolutionary comparison provides evidence for pathogenicity of RMRP mutations Bonafe, Luisa; Dermitzakis, Emmanouil; Unger, Sheila; Greenberg, C. R.; ... Reymond, Alexandre 2005
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Complex haplotypes, copy number polymorphisms and coding variation in two recently divergent mouse strains Adams, D. J.; Dermitzakis, Emmanouil; Cox, Tony; Smith, James; ... Bradley, Allan 2005
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Conserved non-genic sequences - an unexpected feature of mammalian genomes Dermitzakis, Emmanouil; Reymond, Alexandre; Antonarakis, Stylianos 2005
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Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes Deutsch, Samuel; Lyle, Robert; Dermitzakis, Emmanouil; Attar, Homa; ... Antonarakis, Stylianos 2005
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Conserved noncoding sequences are selectively constrained and not mutation cold spots Drake, J. A.; Bird, Christine; Nemesh, James; Thomas, D. J.; ... Hirschhorn, J. N. 2006
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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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The functional impact of structural variation in humans Hurles, Matthew E.; Dermitzakis, Emmanouil; Tyler-Smith, Chris 2008
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From gene expression to disease risk Dermitzakis, Emmanouil 2008
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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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Using gene expression to investigate the genetic basis of complex disorders Nica, Alexandra; Dermitzakis, Emmanouil 2008
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Regulatory variation and evolution: implications for disease Dermitzakis, Emmanouil 2008
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Assaying the regulatory potential of mammalian conserved non-coding sequences in human cells Attanasio, Catia; Reymond, Alexandre; Humbert, Richard; Lyle, Robert; ... Stamatoyannopoulos, John A. 2008
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