Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits

por Eleonora Porcu, Sina Rüeger, Kaido Lepik, eQTLGen Consortium, BIOS Consortium, Federico A. Santoni, Alexandre Reymond, Zoltán Kutalik
Publicado 2019

A fish-specific transposable element shapes the repertoire of p53 target genes in zebrafish.

por Lucia Micale, Maria Nicla Loviglio, Marta Manzoni, Carmela Fusco, Bartolomeo Augello, Eugenia Migliavacca, Grazia Cotugno, Eugenio Monti, Giuseppe Borsani, Alexandre Reymond, Giuseppe Merla
Publicado 2012

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

por Francesca Mattioli, Hossein Darvish, Sohail Aziz Paracha, Abbas Tafakhori, Saghar Ghasemi Firouzabadi, Marjan Chapi, Hafiz Muhammad Azhar Baig, Alexandre Reymond, Stylianos E. Antonarakis, Muhammad Ansar
Publicado 2021

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

por Eleonora Porcu, Marie C. Sadler, Kaido Lepik, Chiara Auwerx, Andrew R. Wood, Antoine Weihs, Maroun S. Bou Sleiman, Diogo M. Ribeiro, Stefania Bandinelli, Toshiko Tanaka, Matthias Nauck, Uwe Völker, Olivier Delaneau, Andres Metspalu, Alexander Teumer, Timothy Frayling, Federico A. Santoni, Alexandre Reymond, Zoltán Kutalik
Publicado 2021

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

por Stephan C. Collins, Anna Mikhaleva, Katarina Vrcelj, Valerie E. Vancollie, Christel Wagner, Nestor Demeure, Helen Whitley, Meghna Kannan, Rebecca Balz, Lauren F. E. Anthony, Andrew Edwards, Hervé Moine, Jacqueline K. White, David J. Adams, Alexandre Reymond, Christopher J. Lelliott, Caleb Webber, Binnaz Yalcin
Publicado 2019

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

por Julien Lagarde, Barbara Uszczynska-Ratajczak, Javier Santoyo-Lopez, Jose Manuel Gonzalez, Electra Tapanari, Jonathan M. Mudge, Charles A. Steward, Laurens Wilming, Andrea Tanzer, Cédric Howald, Jacqueline Chrast, Alicia Vela-Boza, Antonio Rueda, Francisco J. Lopez-Domingo, Joaquin Dopazo, Alexandre Reymond, Roderic Guigó, Jennifer Harrow
Publicado 2016

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

por Aaron F. McDaid, Peter K. Joshi, Eleonora Porcu, Andrea Komljenovic, Hao Li, Vincenzo Sorrentino, Maria Litovchenko, Roel P. J. Bevers, Sina Rüeger, Alexandre Reymond, Murielle Bochud, Bart Deplancke, Robert W. Williams, Marc Robinson-Rechavi, Fred Paccaud, Valentin Rousson, Johan Auwerx, James F. Wilson, Zoltán Kutalik
Publicado 2017

A high-resolution anatomical atlas of the transcriptome in the mouse embryo.

por Graciana Diez-Roux, Sandro Banfi, Marc Sultan, Lars Geffers, Santosh Anand, David Rozado, Alon Magen, Elena Canidio, Massimiliano Pagani, Ivana Peluso, Nathalie Lin-Marq, Muriel Koch, Marchesa Bilio, Immacolata Cantiello, Roberta Verde, Cristian De Masi, Salvatore A Bianchi, Juliette Cicchini, Elodie Perroud, Shprese Mehmeti, Emilie Dagand, Sabine Schrinner, Asja Nürnberger, Katja Schmidt, Katja Metz, Christina Zwingmann, Norbert Brieske, Cindy Springer, Ana Martinez Hernandez, Sarah Herzog, Frauke Grabbe, Cornelia Sieverding, Barbara Fischer, Kathrin Schrader, Maren Brockmeyer, Sarah Dettmer, Christin Helbig, Violaine Alunni, Marie-Annick Battaini, Carole Mura, Charlotte N Henrichsen, Raquel Garcia-Lopez, Diego Echevarria, Eduardo Puelles, Elena Garcia-Calero, Stefan Kruse, Markus Uhr, Christine Kauck, Guangjie Feng, Nestor Milyaev, Chuang Kee Ong, Lalit Kumar, MeiSze Lam, Colin A Semple, Attila Gyenesei, Stefan Mundlos, Uwe Radelof, Hans Lehrach, Paolo Sarmientos, Alexandre Reymond, Duncan R Davidson, Pascal Dollé, Stylianos E Antonarakis, Marie-Laure Yaspo, Salvador Martinez, Salvador Martinez, Richard A Baldock, Gregor Eichele, Andrea Ballabio
Publicado 2011

CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits

por Aurélien Macé, Marcus A. Tuke, Patrick Deelen, Kati Kristiansson, Hannele Mattsson, Margit Nõukas, Yadav Sapkota, Ursula Schick, Eleonora Porcu, Sina Rüeger, Aaron F. McDaid, David Porteous, Thomas W. Winkler, Erika Salvi, Nick Shrine, Xueping Liu, Wei Q. Ang, Weihua Zhang, Mary F. Feitosa, Cristina Venturini, Peter J. van der Most, Anders Rosengren, Andrew R. Wood, Robin N. Beaumont, Samuel E. Jones, Katherine S. Ruth, Hanieh Yaghootkar, Jessica Tyrrell, Aki S. Havulinna, Harmen Boers, Reedik Mägi, Jennifer Kriebel, Martina Müller-Nurasyid, Markus Perola, Markku Nieminen, Marja-Liisa Lokki, Mika Kähönen, Jorma S. Viikari, Frank Geller, Jari Lahti, Aarno Palotie, Päivikki Koponen, Annamari Lundqvist, Harri Rissanen, Erwin P. Bottinger, Saima Afaq, Mary K. Wojczynski, Petra Lenzini, Ilja M. Nolte, Thomas Sparsø, Nicole Schupf, Kaare Christensen, Thomas T. Perls, Anne B. Newman, Thomas Werge, Harold Snieder, Timothy D. Spector, John C. Chambers, Seppo Koskinen, Mads Melbye, Olli T. Raitakari, Terho Lehtimäki, Martin D. Tobin, Louise V. Wain, Juha Sinisalo, Annette Peters, Thomas Meitinger, Nicholas G. Martin, Naomi R. Wray, Grant W. Montgomery, Sarah E. Medland, Morris A. Swertz, Erkki Vartiainen, Katja Borodulin, Satu Männistö, Anna Murray, Murielle Bochud, Sébastien Jacquemont, Fernando Rivadeneira, Thomas F. Hansen, Albertine J. Oldehinkel, Massimo Mangino, Michael A. Province, Panos Deloukas, Jaspal S. Kooner, Rachel M. Freathy, Craig Pennell, Bjarke Feenstra, David P. Strachan, Guillaume Lettre, Joel Hirschhorn, Daniele Cusi, Iris M. Heid, Caroline Hayward, Katrin Männik, Jacques S. Beckmann, Ruth J. F. Loos, Dale R. Nyholt, Andres Metspalu, Johan G. Eriksson, Michael N. Weedon, Veikko Salomaa, Lude Franke, Alexandre Reymond, Timothy M. Frayling, Zoltán Kutalik
Publicado 2017