2018

Scientific Articles

unige:103594	Inactivation of AMMECR1 is associated with growth, bone, and heart alterations	Moysés-Oliveira, Mariana; Giannuzzi, Giuliana; Fish, Richard; Rosenfeld, Jill A; ... Reymond, Alexandre
unige:102014	KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis	Gueneau, Lucie; Fish, Richard; Shamseldin, Hanan E.; Voisin, Norine; ... Reymond, Alexandre

2016

Scientific Articles

unige:86476

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability

Lodder, Elisabeth M; De Nittis, Pasquelena; Koopman, Charlotte D; Fish, Richard; ... Merla, Giuseppe

2015

Scientific Articles

unige:89657

Population Variation and Genetic Control of Modular Chromatin Architecture in Humans

Waszak, Sebastian M; Delaneau, Olivier; Gschwind, Andreas R; Kilpinen, Leena Helena; ... Dermitzakis, Emmanouil

2014

Scientific Articles

unige:90277

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

2013

Scientific Articles

unige:90278

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

2012

Scientific Articles

unige:34643

Landscape of transcription in human cells

Djebali, Sarah; Davis, Carrie A; Falconnet, Emilie; Robyr, Daniel; ... Antonarakis, Stylianos

Professional Articles

unige:34649

Evidence for transcript networks composed of chimeric RNAs in human cells

Djebali, Sarah; Lagarde, Julien; Kapranov, Philipp; Lacroix, Vincent; ... Antonarakis, Stylianos

2011

Scientific Articles

unige:34665	A high-resolution anatomical atlas of the transcriptome in the mouse embryo	Diez-Roux, Graciana; Reymond, Alexandre;
unige:34657	Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus	Jacquemont, Sébastien; Reymond, Alexandre; Antonarakis, Stylianos; Sloan Bena, Frédérique; ... Vollenweider, Peter

2009

Scientific Articles

unige:9198	Identifying protein-coding genes in genomic sequences	Harrow, Jennifer; Nagy, Alinda; Reymond, Alexandre; Alioto, Tyler; ... Guigo, Roderic
unige:8737	The genome sequence of taurine cattle: a window to ruminant biology and evolution	Elsik, C. G.; Reymond, Alexandre; Zdobnov, Evgeny; Antonarakis, Stylianos; ... Junier, Thomas
unige:8879	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

2008

Scientific Articles

unige:1281	Assaying the regulatory potential of mammalian conserved non-coding sequences in human cells	Attanasio, Catia; Reymond, Alexandre; Humbert, Richard; Lyle, Robert; ... Stamatoyannopoulos, John A.
unige:9167	Efficient targeted transcript discovery via array-based normalization of RACE libraries	Djebali, Sarah; Kapranov, Philipp; Foissac, Sylvain; Lagarde, Julien; ... Guigo, Roderic
unige:19091	Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase	Micale, Lucia; Fusco, Carmela; Augello, Bartolomeo; Napolitano, Luisa M. R.; ... Reymond, Alexandre

2007

Scientific Articles

unige:9143	Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project	Birney, Ewan; Dermitzakis, Emmanouil; Reymond, Alexandre;
unige:8871	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
unige:8715	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
unige:9112	Pseudogenes in the ENCODE regions: consensus annotation, analysis of transcription, and evolution	Zheng, Deyou; Frankish, Adam; Baertsch, Robert; Kapranov, Philipp; ... Gerstein, M. B.
unige:9089	Structured RNAs in the ENCODE selected regions of the human genome	Washietl, Stefan; Pedersen, J. S.; Korbel, J. O.; Stocsits, Claudia; ... Stadler, P. F.
unige:9059	The implications of alternative splicing in the ENCODE protein complement	Antonarakis, Stylianos; Reymond, Alexandre;

2006

Scientific Articles

unige:8730	Conserved noncoding sequences are selectively constrained and not mutation cold spots	Drake, J. A.; Bird, Christine; Nemesh, James; Thomas, D. J.; ... Hirschhorn, J. N.
unige:9177	EGASP: the human ENCODE Genome Annotation Assessment Project	Guigo, Roderic; Flicek, Paul; Abril, J. F.; Reymond, Alexandre; ... Reese, M. G.
unige:9197	GENCODE: producing a reference annotation for ENCODE	Harrow, Jennifer; Denoeud, France; Frankish, Adam; Reymond, Alexandre; ... Guigo, Roderic
unige:8897	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
unige:8958	Tandem chimerism as a means to increase protein complexity in the human genome	Parra, Genis; Reymond, Alexandre; Dabbouseh, Noura; Dermitzakis, Emmanouil; ... Guigo, Roderic
unige:8815	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

2005

Scientific Articles

unige:9094	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
unige:8666	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
unige:8718	Conserved non-genic sequences - an unexpected feature of mammalian genomes	Dermitzakis, Emmanouil; Reymond, Alexandre; Antonarakis, Stylianos;
unige:9093	Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro	Wattenhofer, Marie; Reymond, Alexandre; Falciola, Veronique; Charollais, Anne; ... Antonarakis, Stylianos
unige:9146	Evolutionary comparison provides evidence for pathogenicity of RMRP mutations	Bonafe, Luisa; Dermitzakis, Emmanouil; Unger, Sheila; Greenberg, C. R.; ... Reymond, Alexandre
unige:9169	Gene finding in the chicken genome	Eyras, Eduardo; Reymond, Alexandre; Castelo, Robert; Bye, J. M.; ... Brent, M. R.
unige:4582	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

2004

Scientific Articles

unige:8611	Chromosome 21 and down syndrome: from genomics to pathophysiology	Antonarakis, Stylianos; Lyle, Robert; Dermitzakis, Emmanouil; Reymond, Alexandre; Deutsch, Samuel
unige:8717	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
unige:8893	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
unige:8894	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
unige:8896	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;

2003

Scientific Articles

unige:9133	Chromosome 21 and Down syndrome: the post-sequence era	Antonarakis, Stylianos; Reymond, Alexandre; Lyle, Robert; Deutsch, Samuel; Dermitzakis, Emmanouil
unige:8770	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.
unige:8720	Evolutionary discrimination of mammalian conserved non-genic sequences (CNGs)	Dermitzakis, Emmanouil; Reymond, Alexandre; Scamuffa, Nathalie; Ucla, Catherine; ... Antonarakis, Stylianos
unige:8747	Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12	Friedli, Marc; Guipponi, Michel; Bertrand, Sonia; Bertrand, Daniel; ... Reymond, Alexandre
unige:9050	The TPTE gene family: cellular expression, subcellular localization and alternative splicing	Tapparel, Caroline; Reymond, Alexandre; Girardet, Christophe; Guillou, Louis; ... Antonarakis, Stylianos

2002

Scientific Articles

unige:8612	Chromosome 21: a small land of fascinating disorders with unknown pathophysiology	Antonarakis, Stylianos; Lyle, Robert; Deutsch, Samuel; Reymond, Alexandre;
unige:8990	Human chromosome 21 gene expression atlas in the mouse	Reymond, Alexandre; Marigo, Valeria; Yaylaoglu, M. B.; Leoni, Antonio; ... Ballabio, Andrea
unige:8988	Nineteen additional unpredicted transcripts from human chromosome 21	Reymond, Alexandre; Camargo, A. A.; Deutsch, Samuel; Stevenson, B. J.; ... Antonarakis, Stylianos
unige:8719	Numerous potentially functional but non-genic conserved sequences on human chromosome 21	Dermitzakis, Emmanouil; Reymond, Alexandre; Lyle, Robert; Scamuffa, Nathalie; ... Antonarakis, Stylianos
unige:8776	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.