Adult male mice emit context-specific ultrasonic vocalizations that are modulated by prior isolation or group rearing environment.

por Jonathan Chabout, Pierre Serreau, Elodie Ey, Ludovic Bellier, Thierry Aubin, Thomas Bourgeron, Sylvie Granon
Publicado 2012

Sequencing ASMT identifies rare mutations in Chinese Han patients with autism.

por Lifang Wang, Jun Li, Yanyan Ruan, Tianlan Lu, Chenxing Liu, Meixiang Jia, Weihua Yue, Jing Liu, Thomas Bourgeron, Dai Zhang
Publicado 2013

SHANK2 Mutations Result in Dysregulation of the ERK1/2 Pathway in Human Induced Pluripotent Stem Cells-Derived Neurons and Shank2(−/−) Mice

por Anne-Kathrin Lutz, Andrea Pérez Arévalo, Valentin Ioannidis, Nadine Stirmlinger, Maria Demestre, Richard Delorme, Thomas Bourgeron, Tobias M. Boeckers, Tobias M. Boeckers
Publicado 2021

Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders.

por Guillaume Huguet, Caroline Nava, Nathalie Lemière, Etienne Patin, Guillaume Laval, Elodie Ey, Alexis Brice, Marion Leboyer, Pierre Szepetowski, Christopher Gillberg, Christel Depienne, Richard Delorme, Thomas Bourgeron
Publicado 2014

Disruption of melatonin synthesis is associated with impaired 14-3-3 and miR-451 levels in patients with autism spectrum disorders

por Cécile Pagan, Hany Goubran-Botros, Richard Delorme, Marion Benabou, Nathalie Lemière, Kerren Murray, Frédérique Amsellem, Jacques Callebert, Pauline Chaste, Stéphane Jamain, Fabien Fauchereau, Guillaume Huguet, Erik Maronde, Marion Leboyer, Jean-Marie Launay, Thomas Bourgeron
Publicado 2017

Variations of the candidate SEZ6L2 gene on Chromosome 16p11.2 in patients with autism spectrum disorders and in human populations.

por Marina Konyukh, Richard Delorme, Pauline Chaste, Claire Leblond, Nathalie Lemière, Gudrun Nygren, Henrik Anckarsäter, Maria Rastam, Ola Ståhlberg, Frederique Amsellem, I Carina Gillberg, Marie Christine Mouren-Simeoni, Evelyn Herbrecht, Fabien Fauchereau, Roberto Toro, Christopher Gillberg, Marion Leboyer, Thomas Bourgeron
Publicado 2011

The meaning of significant mean group differences for biomarker discovery.

por Eva Loth, Jumana Ahmad, Chris Chatham, Beatriz López, Ben Carter, Daisy Crawley, Bethany Oakley, Hannah Hayward, Jennifer Cooke, Antonia San José Cáceres, Danilo Bzdok, Emily Jones, Tony Charman, Christian Beckmann, Thomas Bourgeron, Roberto Toro, Jan Buitelaar, Declan Murphy, Guillaume Dumas
Publicado 2021

The meaning of significant mean group differences for biomarker discovery

por Eva Loth, Jumana Ahmad, Chris Chatham, Beatriz López, Ben Carter, Daisy Crawley, Bethany Oakley, Hannah Hayward, Jennifer Cooke, Antonia San José Cáceres, Danilo Bzdok, Emily Jones, Tony Charman, Christian Beckmann, Thomas Bourgeron, Roberto Toro, Jan Buitelaar, Declan Murphy, Guillaume Dumas
Publicado 2021

Identification of pathway-biased and deleterious melatonin receptor mutants in autism spectrum disorders and in the general population.

por Pauline Chaste, Nathalie Clement, Oriane Mercati, Jean-Luc Guillaume, Richard Delorme, Hany Goubran Botros, Cécile Pagan, Samuel Périvier, Isabelle Scheid, Gudrun Nygren, Henrik Anckarsäter, Maria Rastam, Ola Ståhlberg, Carina Gillberg, Emilie Serrano, Nathalie Lemière, Jean Marie Launay, Marie Christine Mouren-Simeoni, Marion Leboyer, Christopher Gillberg, Ralf Jockers, Thomas Bourgeron
Publicado 2010

A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder

por Livia O. Loureiro, Jennifer L. Howe, Miriam S. Reuter, Alana Iaboni, Kristina Calli, Delnaz Roshandel, Iva Pritišanac, Alan Moses, Julie D. Forman-Kay, Brett Trost, Mehdi Zarrei, Olivia Rennie, Lynette Y. S. Lau, Christian R. Marshall, Siddharth Srivastava, Brianna Godlewski, Elizabeth D. Buttermore, Mustafa Sahin, Dean Hartley, Thomas Frazier, Jacob Vorstman, Stelios Georgiades, Suzanne M. E. Lewis, Peter Szatmari, Clarrisa A. (Lisa) Bradley, Anne-Claude Tabet, Marjolaine Willems, Serge Lumbroso, Amélie Piton, James Lespinasse, Richard Delorme, Thomas Bourgeron, Evdokia Anagnostou, Stephen W. Scherer
Publicado 2021

Imbalanced social-communicative and restricted repetitive behavior subtypes of autism spectrum disorder exhibit different neural circuitry

por Natasha Bertelsen, Isotta Landi, Richard A. I. Bethlehem, Jakob Seidlitz, Elena Maria Busuoli, Veronica Mandelli, Eleonora Satta, Stavros Trakoshis, Bonnie Auyeung, Prantik Kundu, Eva Loth, Guillaume Dumas, Sarah Baumeister, Christian F. Beckmann, Sven Bölte, Thomas Bourgeron, Tony Charman, Sarah Durston, Christine Ecker, Rosemary J. Holt, Mark H. Johnson, Emily J. H. Jones, Luke Mason, Andreas Meyer-Lindenberg, Carolin Moessnang, Marianne Oldehinkel, Antonio M. Persico, Julian Tillmann, Steve C. R. Williams, Will Spooren, Declan G. M. Murphy, Jan K. Buitelaar, the EU-AIMS LEAP group, Simon Baron-Cohen, Meng-Chuan Lai, Michael V. Lombardo
Publicado 2021

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

por Rahel T. Florian, Florian Kraft, Elsa Leitão, Sabine Kaya, Stephan Klebe, Eloi Magnin, Anne-Fleur van Rootselaar, Julien Buratti, Theresa Kühnel, Christopher Schröder, Sebastian Giesselmann, Nikolai Tschernoster, Janine Altmueller, Anaide Lamiral, Boris Keren, Caroline Nava, Delphine Bouteiller, Sylvie Forlani, Ludmila Jornea, Regina Kubica, Tao Ye, Damien Plassard, Bernard Jost, Vincent Meyer, Jean-François Deleuze, Yannick Delpu, Mario D. M. Avarello, Lisanne S. Vijfhuizen, Gabrielle Rudolf, Edouard Hirsch, Thessa Kroes, Philipp S. Reif, Felix Rosenow, Christos Ganos, Marie Vidailhet, Lionel Thivard, Alexandre Mathieu, Thomas Bourgeron, Ingo Kurth, Haloom Rafehi, Laura Steenpass, Bernhard Horsthemke, FAME consortium, Eric LeGuern, Karl Martin Klein, Pierre Labauge, Mark F. Bennett, Melanie Bahlo, Jozef Gecz, Mark A. Corbett, Marina A. J. Tijssen, Arn M. J. M. van den Maagdenberg, Christel Depienne
Publicado 2019