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The murine orthologue of the Golgi-localized TPTE protein provides clues to the evolutionary history of the human TPTE gene family Guipponi, Michel; Tapparel, Caroline; Jousson, Olivier; Scamuffa, N.; ... Antonarakis, Stylianos 2001
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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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Chromosome 21: a small land of fascinating disorders with unknown pathophysiology Antonarakis, Stylianos; Lyle, Robert; Deutsch, Samuel; Reymond, Alexandre 2002
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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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The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro Guipponi, Michel; Vuagniaux, Gregoire; Wattenhofer, Marie; Shibuya, Kazunori; ... Rossier, B. C. 2002
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Nineteen additional unpredicted transcripts from human chromosome 21 Reymond, Alexandre; Camargo, A. A.; Deutsch, Samuel; Stevenson, B. J.; ... 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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Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12 Friedli, Marc; Guipponi, Michel; Bertrand, Sonia; Bertrand, Daniel; ... Reymond, Alexandre 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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The TPTE gene family: cellular expression, subcellular localization and alternative splicing Tapparel, Caroline; Reymond, Alexandre; Girardet, Christophe; Guillou, Louis; ... Antonarakis, Stylianos 2003
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Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin Menzel, Olivier; Bekkeheien, R. C.; Reymond, Alexandre; Fukai, Naomi; ... Guipponi, Michel 2004
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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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The Caenorhabditis elegans ortholog of C21orf80, a potential new protein O-fucosyltransferase, is required for normal development Menzel, Olivier; Vellai, Tibor; Takacs-Vellai, Krisztina; Reymond, Alexandre; ... Guipponi, Michel 2004
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The subcellular localization of the ChoRE-binding protein, encoded by the Williams-Beuren syndrome critical region gene 14, is regulated by 14-3-3 Merla, Giuseppe; Howald, Cedric; Antonarakis, Stylianos; Reymond, Alexandre 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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Gene finding in the chicken genome Eyras, Eduardo; Reymond, Alexandre; Castelo, Robert; Bye, J. M.; ... Brent, M. R. 2005
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LKB1 interacts with and phosphorylates PTEN: a functional link between two proteins involved in cancer predisposing syndromes Mehenni, Hamid; Lin-Marq, Nathalie; Buchet-Poyau, Karine; Reymond, Alexandre; ... Antonarakis, Stylianos 2005
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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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Conserved non-genic sequences - an unexpected feature of mammalian genomes Dermitzakis, Emmanouil; Reymond, Alexandre; Antonarakis, Stylianos 2005
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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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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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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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GENCODE: producing a reference annotation for ENCODE Harrow, Jennifer; Denoeud, France; Frankish, Adam; Reymond, Alexandre; ... Guigo, Roderic 2006
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Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions Howald, C.; Merla, Giuseppe; Digilio, M. C.; Amenta, S.; ... Reymond, Alexandre 2006
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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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Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes Merla, Giuseppe; Howald, Cedric; Henrichsen, C. N.; Lyle, Robert; ... Reymond, Alexandre 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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Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21 Lyle, Robert; Prandini, Paola; Osoegawa, Kazutoyo; ten Hallers, Boudewijn; ... Antonarakis, Stylianos 2007
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Prominent use of distal 5' transcription start sites and discovery of a large number of additional exons in ENCODE regions Denoeud, France; Kapranov, Philipp; Ucla, Catherine; Frankish, Adam; ... Reymond, Alexandre 2007
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The implications of alternative splicing in the ENCODE protein complement Antonarakis, Stylianos; Reymond, Alexandre 2007
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Structured RNAs in the ENCODE selected regions of the human genome Washietl, Stefan; Pedersen, J. S.; Korbel, J. O.; Stocsits, Claudia; ... Stadler, P. F. 2007
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Pseudogenes in the ENCODE regions: consensus annotation, analysis of transcription, and evolution Zheng, Deyou; Frankish, Adam; Baertsch, Robert; Kapranov, Philipp; ... Gerstein, M. B. 2007
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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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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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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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Identifying protein-coding genes in genomic sequences Harrow, Jennifer; Nagy, Alinda; Reymond, Alexandre; Alioto, Tyler; ... Guigo, Roderic 2009
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Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls Makrythanasis, Periklis; Kapranov, Philipp; Bartoloni, Lucia; Reymond, Alexandre; ... Antonarakis, Stylianos 2009
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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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Identification and removal of low-complexity sites in allele-specific analysis of ChIP-seq data Waszak, Sebastian M; Kilpinen, Leena Helena; Gschwind, Andreas R; Orioli, Andrea; ... Deplancke, Bart 2014
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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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KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis Gueneau, Lucie; Fish, Richard; Shamseldin, Hanan E.; Voisin, Norine; ... Reymond, Alexandre 2018
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Inactivation of AMMECR1 is associated with growth, bone, and heart alterations Moysés-Oliveira, Mariana; Giannuzzi, Giuliana; Fish, Richard; Rosenfeld, Jill A; ... Reymond, Alexandre 2018