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Differentially expressed genes reflect disease-induced rather than disease-causing changes in the transcriptome
Author / Creator:Porcu, Eleonora ; Sadler, Marie C. ; Lepik, Kaido ; Auwerx, Chiara ; Wood, Andrew R. ; Weihs, Antoine ; Sleiman, Maroun S. Bou ; Ribeiro, Diogo M. ; Bandinelli, Stefania ; Tanaka, Toshiko ; Nauck, Matthias ; Völker, Uwe ; Delaneau, Olivier ; Metspalu, Andres ; Teumer, Alexander ; Frayling, Timothy ; Santoni, Federico A. ; Reymond, Alexandre ; Kutalik, Zoltán
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2021-09, Vol.12 (1), p.5647-9, Article 5647
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KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant
Author / Creator:Golzio, Christelle ; Willer, Jason ; Talkowski, Michael E. ; Oh, Edwin C. ; Taniguchi, Yu ; Jacquemont, Sébastien ; Reymond, Alexandre ; Sun, Mei ; Sawa, Akira ; Gusella, James F. ; Kamiya, Atsushi ; Beckmann, Jacques S. ; Katsanis, Nicholas
Publisher:London: Nature Publishing Group UK
Journal title:Nature (London), 2012-05, Vol.485 (7398), p.363-367
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The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice
Author / Creator:Forzano, Francesca ; Antonova, Olga ; Clarke, Angus ; de Wert, Guido ; Hentze, Sabine ; Jamshidi, Yalda ; Moreau, Yves ; Perola, Markus ; Prokopenko, Inga ; Read, Andrew ; Reymond, Alexandre ; Stefansdottir, Vigdis ; van El, Carla ; Genuardi, Maurizio ; Peterlin, Borut ; Oliveira, Carla ; Writzl, Karin ; Houge, Gunnar Douzgos ; Cordier, Christophe ; Howard, Heidi ; Macek, Milan ; Melegh, Béla ; Mendes, Alvaro ; Radojkovic, Dragica ; Rial-Sebbag, Emmanuelle ; Ulph, Fiona
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2022-05, Vol.30 (5), p.493-495
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Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
Author / Creator:Pizzo, Lucilla ; Jensen, Matthew ; Polyak, Andrew ; Rosenfeld, Jill A. ; Mannik, Katrin ; Krishnan, Arjun ; McCready, Elizabeth ; Pichon, Olivier ; Le Caignec, Cedric ; Van Dijck, Anke ; Pope, Kate ; Voorhoeve, Els ; Yoon, Jieun ; Stankiewicz, Paweł ; Cheung, Sau Wai ; Pazuchanics, Damian ; Huber, Emily ; Kumar, Vijay ; Kember, Rachel L. ; Mari, Francesca ; Curró, Aurora ; Castiglia, Lucia ; Galesi, Ornella ; Avola, Emanuela ; Mattina, Teresa ; Fichera, Marco ; Mandarà, Luana ; Vincent, Marie ; Nizon, Mathilde ; Mercier, Sandra ; Bénéteau, Claire ; Blesson, Sophie ; Martin-Coignard, Dominique ; Mosca-Boidron, Anne-Laure ; Caberg, Jean-Hubert ; Bucan, Maja ; Zeesman, Susan ; Nowaczyk, Małgorzata J. M. ; Lefebvre, Mathilde ; Faivre, Laurence ; Callier, Patrick ; Skinner, Cindy ; Keren, Boris ; Perrine, Charles ; Prontera, Paolo ; Marle, Nathalie ; Renieri, Alessandra ; Reymond, Alexandre ; Kooy, R. Frank ; Isidor, Bertrand ; Schwartz, Charles ; Romano, Corrado ; Sistermans, Erik ; Amor, David J. ; Andrieux, Joris ; Girirajan, Santhosh
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2019-04, Vol.21 (4), p.816-825
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Coordinated Effects of Sequence Variation on DNA Binding, Chromatin Structure, and Transcription
Author / Creator:Kilpinen, Helena ; Waszak, Sebastian M. ; Gschwind, Andreas R. ; Raghav, Sunil K. ; Witwicki, Robert M. ; Orioli, Andrea ; Migliavacca, Eugenia ; Wiederkehr, Michaël ; Gutierrez-Arcelus, Maria ; Panousis, Nikolaos I. ; Yurovsky, Alisa ; Lappalainen, Tuuli ; Romano-Palumbo, Luciana ; Planchon, Alexandra ; Bielser, Deborah ; Bryois, Julien ; Padioleau, Ismael ; Udin, Gilles ; Thurnheer, Sarah ; Hacker, David ; Core, Leighton J. ; Lis, John T. ; Hernandez, Nouria ; Reymond, Alexandre ; Deplancke, Bart ; Dermitzakis, Emmanouil T.
Publisher:United States: American Association for the Advancement of Science
Journal title:Science (American Association for the Advancement of Science), 2013-11, Vol.342 (6159), p.744-747
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Reciprocal Effects on Neurocognitive and Metabolic Phenotypes in Mouse Models of 16p11.2 Deletion and Duplication Syndromes
Author / Creator:Arbogast, Thomas ; Ouagazzal, Abdel-Mouttalib ; Chevalier, Claire ; Kopanitsa, Maksym ; Afinowi, Nurudeen ; Migliavacca, Eugenia ; Cowling, Belinda S. ; Birling, Marie-Christine ; Champy, Marie-France ; Reymond, Alexandre ; Herault, Yann
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2016-02, Vol.12 (2), p.e1005709-e1005709
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Exploiting the mediating role of the metabolome to unravel transcript-to-phenotype associations
Author / Creator:Auwerx, Chiara ; Sadler, Marie C ; Woh, Tristan ; Reymond, Alexandre ; Kutalik, Zoltán ; Porcu, Eleonora
Publisher:England: eLife Science Publications, Ltd
Journal title:eLife, 2023-03, Vol.12
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A High-Resolution Anatomical Atlas of the Transcriptome in the Mouse Embryo
Author / Creator:Diez-Roux, Graciana ; Banfi, Sandro ; Sultan, Marc ; Geffers, Lars ; Anand, Santosh ; Rozado, David ; Magen, Alon ; Canidio, Elena ; Pagani, Massimiliano ; Peluso, Ivana ; Lin-Marq, Nathalie ; Koch, Muriel ; Bilio, Marchesa ; Cantiello, Immacolata ; Verde, Roberta ; De Masi, Cristian ; Bianchi, Salvatore A. ; Cicchini, Juliette ; Perroud, Elodie ; Mehmeti, Shprese ; Dagand, Emilie ; Schrinner, Sabine ; Nürnberger, Asja ; Schmidt, Katja ; Metz, Katja ; Zwingmann, Christina ; Brieske, Norbert ; Springer, Cindy ; Hernandez, Ana Martinez ; Herzog, Sarah ; Grabbe, Frauke ; Sieverding, Cornelia ; Fischer, Barbara ; Schrader, Kathrin ; Brockmeyer, Maren ; Dettmer, Sarah ; Helbig, Christin ; Alunni, Violaine ; Battaini, Marie-Annick ; Mura, Carole ; Henrichsen, Charlotte N. ; Garcia-Lopez, Raquel ; Echevarria, Diego ; Puelles, Eduardo ; Garcia-Calero, Elena ; Kruse, Stefan ; Uhr, Markus ; Kauck, Christine ; Feng, Guangjie ; Milyaev, Nestor ; Ong, Chuang Kee ; Kumar, Lalit ; Lam, MeiSze ; Semple, Colin A. ; Gyenesei, Attila ; Mundlos, Stefan ; Radelof, Uwe ; Lehrach, Hans ; Sarmientos, Paolo ; Reymond, Alexandre ; Davidson, Duncan R. ; Dollé, Pascal ; Antonarakis, Stylianos E. ; Yaspo, Marie-Laure ; Martinez, Salvador ; Baldock, Richard A. ; Eichele, Gregor ; Ballabio, Andrea
Publisher:United States: Public Library of Science
Journal title:PLoS biology, 2011-01, Vol.9 (1), p.e1000582-e1000582
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Dissecting the autism-associated 16p11.2 locus identifies multiple drivers in neuroanatomical phenotypes and unveils a male-specific role for the major vault protein
Author / Creator:Kretz, Perrine F. ; Wagner, Christel ; Mikhaleva, Anna ; Montillot, Charlotte ; Hugel, Sylvain ; Morella, Ilaria ; Kannan, Meghna ; Fischer, Marie-Christine ; Milhau, Maxence ; Yalcin, Ipek ; Brambilla, Riccardo ; Selloum, Mohammed ; Herault, Yann ; Reymond, Alexandre ; Collins, Stephan C. ; Yalcin, Binnaz
Publisher:England: BioMed Central Ltd
Journal title:Genome Biology, 2023-11, Vol.24 (1), p.261-22, Article 261
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Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility
Author / Creator:Nuttle, Xander ; Giannuzzi, Giuliana ; Duyzend, Michael H. ; Schraiber, Joshua G. ; Narvaiza, Iñigo ; Sudmant, Peter H. ; Penn, Osnat ; Chiatante, Giorgia ; Malig, Maika ; Huddleston, John ; Benner, Chris ; Camponeschi, Francesca ; Ciofi-Baffoni, Simone ; Stessman, Holly A. F. ; Marchetto, Maria C. N. ; Denman, Laura ; Harshman, Lana ; Baker, Carl ; Raja, Archana ; Penewit, Kelsi ; Janke, Nicolette ; Tang, W. Joyce ; Ventura, Mario ; Banci, Lucia ; Antonacci, Francesca ; Akey, Joshua M. ; Amemiya, Chris T. ; Gage, Fred H. ; Reymond, Alexandre ; Eichler, Evan E.
Publisher:London: Nature Publishing Group UK
Journal title:Nature (London), 2016-08, Vol.536 (7615), p.205-209
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Bayesian association scan reveals loci associated with human lifespan and linked biomarkers
Author / Creator:McDaid, Aaron F. ; Joshi, Peter K. ; Porcu, Eleonora ; Komljenovic, Andrea ; Li, Hao ; Sorrentino, Vincenzo ; Litovchenko, Maria ; Bevers, Roel P. J. ; Rüeger, Sina ; Reymond, Alexandre ; Bochud, Murielle ; Deplancke, Bart ; Williams, Robert W. ; Robinson-Rechavi, Marc ; Paccaud, Fred ; Rousson, Valentin ; Auwerx, Johan ; Wilson, James F. ; Kutalik, Zoltán
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2017-07, Vol.8 (1), p.15842-15842, Article 15842
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Extension of human lncRNA transcripts by RACE coupled with long-read high-throughput sequencing (RACE-Seq)
Author / Creator:Lagarde, Julien ; Uszczynska-Ratajczak, Barbara ; Santoyo-Lopez, Javier ; Gonzalez, Jose Manuel ; Tapanari, Electra ; Mudge, Jonathan M. ; Steward, Charles A. ; Wilming, Laurens ; Tanzer, Andrea ; Howald, Cédric ; Chrast, Jacqueline ; Vela-Boza, Alicia ; Rueda, Antonio ; Lopez-Domingo, Francisco J. ; Dopazo, Joaquin ; Reymond, Alexandre ; Guigó, Roderic ; Harrow, Jennifer
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2016-08, Vol.7 (1), p.12339-12339, Article 12339
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Rare copy-number variants as modulators of common disease susceptibility
Author / Creator:Auwerx, Chiara ; Jõeloo, Maarja ; Sadler, Marie C. ; Tesio, Nicolò ; Ojavee, Sven ; Clark, Charlie J. ; Mägi, Reedik ; Esko, Tõnu ; Metspalu, Andres ; Milani, Lili ; Nelis, Mari ; Reymond, Alexandre ; Kutalik, Zoltán
Publisher:England: BioMed Central Ltd
Journal title:Genome medicine, 2024-01, Vol.16 (1), p.5-24, Article 5
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Low number of fixed somatic mutations in a long-lived oak tree
Author / Creator:Schmid-Siegert, Emanuel ; Sarkar, Namrata ; Iseli, Christian ; Calderon, Sandra ; Gouhier-Darimont, Caroline ; Chrast, Jacqueline ; Cattaneo, Pietro ; Schütz, Frédéric ; Farinelli, Laurent ; Pagni, Marco ; Schneider, Michel ; Voumard, Jérémie ; Jaboyedoff, Michel ; Fankhauser, Christian ; Hardtke, Christian S. ; Keller, Laurent ; Pannell, John R. ; Reymond, Alexandre ; Robinson-Rechavi, Marc ; Xenarios, Ioannis ; Reymond, Philippe
Publisher:London: Nature Publishing Group UK
Journal title:Nature plants, 2017-12, Vol.3 (12), p.926-929
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Emergence of Young Human Genes after a Burst of Retroposition in Primates
Author / Creator:Marques, Ana Claudia ; Dupanloup, Isabelle ; Vinckenbosch, Nicolas ; Reymond, Alexandre ; Kaessmann, Henrik
Publisher:United States: Public Library of Science
Journal title:PLoS biology, 2005-11, Vol.3 (11), p.e357-e357
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Chromosome 21 and Down syndrome: from genomics to pathophysiology
Author / Creator:Antonarakis, Stylianos E. ; Lyle, Robert ; Dermitzakis, Emmanouil T. ; Reymond, Alexandre ; Deutsch, Samuel
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Genetics, 2004-10, Vol.5 (10), p.725-738
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Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis
Author / Creator:Collins, Stephan C. ; Mikhaleva, Anna ; Vrcelj, Katarina ; Vancollie, Valerie E. ; Wagner, Christel ; Demeure, Nestor ; Whitley, Helen ; Kannan, Meghna ; Balz, Rebecca ; Anthony, Lauren F. E. ; Edwards, Andrew ; Moine, Hervé ; White, Jacqueline K. ; Adams, David J. ; Reymond, Alexandre ; Lelliott, Christopher J. ; Webber, Caleb ; Yalcin, Binnaz
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2019-08, Vol.10 (1), p.3465-12, Article 3465
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GENCODE: producing a reference annotation for ENCODE
Author / Creator:Harrow, Jennifer ; Denoeud, France ; Frankish, Adam ; Reymond, Alexandre ; Chen, Chao-Kung ; Chrast, Jacqueline ; Lagarde, Julien ; Gilbert, James GR ; Storey, Roy ; Swarbreck, David ; Rossier, Colette ; Ucla, Catherine ; Hubbard, Tim ; Antonarakis, Stylianos E ; Guigo, Roderic
Publisher:England: BioMed Central Ltd
Journal title:Genome Biology (Online Edition), 2006-01, Vol.7 (S1), p.S4.1-1398, Article S4
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Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder
Author / Creator:Mattioli, Francesca ; Darvish, Hossein ; Paracha, Sohail Aziz ; Tafakhori, Abbas ; Firouzabadi, Saghar Ghasemi ; Chapi, Marjan ; Baig, Hafiz Muhammad Azhar ; Reymond, Alexandre ; Antonarakis, Stylianos E. ; Ansar, Muhammad
Publisher:London: Nature Publishing Group UK
Journal title:Npj genomic medicine, 2021-11, Vol.6 (1), p.94-94, Article 94
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Limited evidence for blood eQTLs in human sexual dimorphism
Author / Creator:Porcu, Eleonora ; Claringbould, Annique ; Weihs, Antoine ; Lepik, Kaido ; Richardson, Tom G. ; Völker, Uwe ; Santoni, Federico A. ; Teumer, Alexander ; Franke, Lude ; Reymond, Alexandre ; Kutalik, Zoltán
Publisher:England: BioMed Central Ltd
Journal title:Genome medicine, 2022-08, Vol.14 (1), p.89-89, Article 89
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Showing 1 to 20 of 126 results

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Differentially expressed genes reflect disease-induced rather than disease-causing changes in the transcriptome

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KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

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The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice

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Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

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Coordinated Effects of Sequence Variation on DNA Binding, Chromatin Structure, and Transcription

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Reciprocal Effects on Neurocognitive and Metabolic Phenotypes in Mouse Models of 16p11.2 Deletion and Duplication Syndromes

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Exploiting the mediating role of the metabolome to unravel transcript-to-phenotype associations

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A High-Resolution Anatomical Atlas of the Transcriptome in the Mouse Embryo

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Dissecting the autism-associated 16p11.2 locus identifies multiple drivers in neuroanatomical phenotypes and unveils a male-specific role for the major vault protein

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Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility

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Bayesian association scan reveals loci associated with human lifespan and linked biomarkers

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Extension of human lncRNA transcripts by RACE coupled with long-read high-throughput sequencing (RACE-Seq)

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Rare copy-number variants as modulators of common disease susceptibility

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Low number of fixed somatic mutations in a long-lived oak tree

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Emergence of Young Human Genes after a Burst of Retroposition in Primates

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Chromosome 21 and Down syndrome: from genomics to pathophysiology

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Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis

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GENCODE: producing a reference annotation for ENCODE

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Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder

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Limited evidence for blood eQTLs in human sexual dimorphism

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