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 TitleAuthors / EditorsDate
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A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein Wattenhofer, Marie; Sahin-Calapoglu, Nilufer; Andreasen, Ditte; Kalay, Ersan; ... Antonarakis, Stylianos 2005
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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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Chromosome 21 and down syndrome: from genomics to pathophysiology Antonarakis, Stylianos; Lyle, Robert; Dermitzakis, Emmanouil; Reymond, Alexandre; Deutsch, Samuel 2004
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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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Chromosome 21: a small land of fascinating disorders with unknown pathophysiology Antonarakis, Stylianos; Lyle, Robert; Deutsch, Samuel; Reymond, Alexandre 2002
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Comparative gene finding in chicken indicates that we are closing in on the set of multi-exonic widely expressed human genes Castelo, Robert; Reymond, Alexandre; Wyss, Carine; Camara, Francisco; ... Eyras, Eduardo 2005
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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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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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Conserved non-genic sequences - an unexpected feature of mammalian genomes Dermitzakis, Emmanouil; Reymond, Alexandre; 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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Coordinated effects of sequence variation on DNA binding, chromatin structure, and transcription Kilpinen, Leena Helena; Waszak, Sebastian M; Gschwind, Andreas R; Raghav, Sunil K; ... Dermitzakis, Emmanouil 2013
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Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro Wattenhofer, Marie; Reymond, Alexandre; Falciola, Veronique; Charollais, Anne; ... Antonarakis, Stylianos 2005
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Efficient targeted transcript discovery via array-based normalization of RACE libraries Djebali, Sarah; Kapranov, Philipp; Foissac, Sylvain; Lagarde, Julien; ... Guigo, Roderic 2008
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EGASP: the human ENCODE Genome Annotation Assessment Project Guigo, Roderic; Flicek, Paul; Abril, J. F.; Reymond, Alexandre; ... Reese, M. G. 2006
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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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Evolutionary discrimination of mammalian conserved non-genic sequences (CNGs) Dermitzakis, Emmanouil; Reymond, Alexandre; Scamuffa, Nathalie; Ucla, Catherine; ... Antonarakis, Stylianos 2003
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From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map Reymond, Alexandre; Friedli, Marc; Henrichsen, C. N.; Chapot, F.; ... Antonarakis, Stylianos 2001
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GENCODE: producing a reference annotation for ENCODE Harrow, Jennifer; Denoeud, France; Frankish, Adam; Reymond, Alexandre; ... Guigo, Roderic 2006
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Gene finding in the chicken genome Eyras, Eduardo; Reymond, Alexandre; Castelo, Robert; Bye, J. M.; ... Brent, M. R. 2005
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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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