Should metabolic diseases be systematically screened in nonsyndromic autism spectrum disorders?

by Manuel Schiff, Jean-François Benoist, Sofiane Aïssaoui, Odile Boespflug-Tanguy, Marie-Christine Mouren, Hélène Ogier de Baulny, Richard Delorme
Published 2011

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

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

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

by 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
Published 2014

Visual attention and inhibitory control in children, teenagers and adults with autism without intellectual disability: results of oculomotor tasks from a 2-year longitudinal follow...

by Anouck Amestoy, Etienne Guillaud, Giulia Bucchioni, Tiziana Zalla, Daniel Umbricht, Christopher Chatham, Lorraine Murtagh, Josselin Houenou, Richard Delorme, Miriam Ly-Le Moal, Marion Leboyer, Manuel Bouvard, Jean-René Cazalets
Published 2021

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

by 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
Published 2017

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

by 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
Published 2011

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

by 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
Published 2010

A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder

by 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
Published 2021