About the Authors

Claire S. Leblond

Affiliations Institut Pasteur, Human Genetics and Cognitive Functions Unit, Paris, France, CNRS UMR 3571 Genes, Synapses and Cognition, Institut Pasteur, Paris, France, University Paris Diderot, Sorbonne Paris Cité, Human Genetics and Cognitive Functions, Paris, France

Caroline Nava

Affiliations INSERM U975 - CRICM, Institut du cerveau et de la moelle épinière (ICM), CNRS 7225 - CRICM, Hôpital Pitié-Salpêtrière, Paris, France, Sorbonne Universités, UPMC Univ Paris 6, Paris, France, UMR_S 975, Paris, France

Anne Polge

Affiliation Laboratoire de Biochimie, CHU Nîmes, Nîmes, France

Julie Gauthier

Affiliation Molecular Diagnostic Laboratory and Division of Medical Genetics, CHU Sainte-Justine, Montreal, Quebec, Canada

Guillaume Huguet

Affiliations Institut Pasteur, Human Genetics and Cognitive Functions Unit, Paris, France, CNRS UMR 3571 Genes, Synapses and Cognition, Institut Pasteur, Paris, France, University Paris Diderot, Sorbonne Paris Cité, Human Genetics and Cognitive Functions, Paris, France

Serge Lumbroso

Affiliation Laboratoire de Biochimie, CHU Nîmes, Nîmes, France

Fabienne Giuliano

Affiliation Department of Medical Genetics, Nice Teaching Hospital, Nice, France

Coline Stordeur

Affiliations Institut Pasteur, Human Genetics and Cognitive Functions Unit, Paris, France, CNRS UMR 3571 Genes, Synapses and Cognition, Institut Pasteur, Paris, France, University Paris Diderot, Sorbonne Paris Cité, Human Genetics and Cognitive Functions, Paris, France, Assistance Publique-Hôpitaux de Paris, Robert Debré Hospital, Department of Child and Adolescent Psychiatry, Paris, France

Christel Depienne

Affiliations INSERM U975 - CRICM, Institut du cerveau et de la moelle épinière (ICM), CNRS 7225 - CRICM, Hôpital Pitié-Salpêtrière, Paris, France, Sorbonne Universités, UPMC Univ Paris 6, Paris, France, UMR_S 975, Paris, France

Kevin Mouzat

Affiliation Laboratoire de Biochimie, CHU Nîmes, Nîmes, France

Dalila Pinto

Affiliation Departments of Psychiatry, Genetics and Genomic Sciences, Seaver Autism Center, The Mindich Child Health & Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America

Jennifer Howe

Affiliation The Centre for Applied Genomics, The Hospital for Sick Children and the University of Toronto McLaughlin Centre, Toronto, Canada

Nathalie Lemière

Affiliations Institut Pasteur, Human Genetics and Cognitive Functions Unit, Paris, France, CNRS UMR 3571 Genes, Synapses and Cognition, Institut Pasteur, Paris, France, University Paris Diderot, Sorbonne Paris Cité, Human Genetics and Cognitive Functions, Paris, France

Christelle M. Durand

Affiliations Institut Pasteur, Human Genetics and Cognitive Functions Unit, Paris, France, CNRS UMR 3571 Genes, Synapses and Cognition, Institut Pasteur, Paris, France, University Paris Diderot, Sorbonne Paris Cité, Human Genetics and Cognitive Functions, Paris, France

Jessica Guibert

Affiliations Institut Pasteur, Human Genetics and Cognitive Functions Unit, Paris, France, CNRS UMR 3571 Genes, Synapses and Cognition, Institut Pasteur, Paris, France, University Paris Diderot, Sorbonne Paris Cité, Human Genetics and Cognitive Functions, Paris, France

Elodie Ey

Affiliations Institut Pasteur, Human Genetics and Cognitive Functions Unit, Paris, France, CNRS UMR 3571 Genes, Synapses and Cognition, Institut Pasteur, Paris, France, University Paris Diderot, Sorbonne Paris Cité, Human Genetics and Cognitive Functions, Paris, France

Roberto Toro

Affiliations Institut Pasteur, Human Genetics and Cognitive Functions Unit, Paris, France, CNRS UMR 3571 Genes, Synapses and Cognition, Institut Pasteur, Paris, France, University Paris Diderot, Sorbonne Paris Cité, Human Genetics and Cognitive Functions, Paris, France

Hugo Peyre

Affiliation Laboratoire de Sciences Cognitives et Psycholinguistique, École Normale Supérieure, CNRS, EHESS, Paris, France

Alexandre Mathieu

Affiliations Institut Pasteur, Human Genetics and Cognitive Functions Unit, Paris, France, CNRS UMR 3571 Genes, Synapses and Cognition, Institut Pasteur, Paris, France, University Paris Diderot, Sorbonne Paris Cité, Human Genetics and Cognitive Functions, Paris, France

Frédérique Amsellem

Affiliations Institut Pasteur, Human Genetics and Cognitive Functions Unit, Paris, France, Assistance Publique-Hôpitaux de Paris, Robert Debré Hospital, Department of Child and Adolescent Psychiatry, Paris, France, FondaMental Foundation, Créteil, France

Maria Rastam

Affiliation Department of Clinical Sciences in Lund, Lund University, Lund, Sweden

I. Carina Gillberg

Affiliation Gillberg Neuropsychiatry Centre, University of Gothenburg, Gothenburg, Sweden

Gudrun A. Rappold

Affiliation Department of Molecular Human Genetics, Heidelberg University, Heidelberg, Germany

Richard Holt

Affiliation Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom

Anthony P. Monaco

Affiliation Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom

Elena Maestrini

Affiliation Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy

Pilar Galan

Affiliation Nutritional Epidemiology Research Unit, INSERM U557, INRA U1125, CNAM, University of Paris 13, CRNH IdF, Bobigny, France

Delphine Heron

Affiliations Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, Département de Génétique et de Cytogénétique, Unité fonctionnelle de génétique clinique, Paris, France, Centre de Référence “Déficiences intellectuelles de causes rares”, Paris, France and Groupe de Recherche Clinique “Déficience intellectuelle et autisme”, UPMC, Paris, France, Assistance Publique-Hôpitaux de Paris, Hôpital Armand Trousseau, Service de Neuropédiatrie, Paris, France

Aurélia Jacquette

Affiliations Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, Département de Génétique et de Cytogénétique, Unité fonctionnelle de génétique clinique, Paris, France, Centre de Référence “Déficiences intellectuelles de causes rares”, Paris, France and Groupe de Recherche Clinique “Déficience intellectuelle et autisme”, UPMC, Paris, France

Alexandra Afenjar

Affiliations Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, Département de Génétique et de Cytogénétique, Unité fonctionnelle de génétique clinique, Paris, France, Centre de Référence “Déficiences intellectuelles de causes rares”, Paris, France and Groupe de Recherche Clinique “Déficience intellectuelle et autisme”, UPMC, Paris, France, Assistance Publique-Hôpitaux de Paris, Hôpital Armand Trousseau, Service de Neuropédiatrie, Paris, France

Agnès Rastetter

Affiliations INSERM U975 - CRICM, Institut du cerveau et de la moelle épinière (ICM), CNRS 7225 - CRICM, Hôpital Pitié-Salpêtrière, Paris, France, Sorbonne Universités, UPMC Univ Paris 6, Paris, France, UMR_S 975, Paris, France

Alexis Brice

Affiliations INSERM U975 - CRICM, Institut du cerveau et de la moelle épinière (ICM), CNRS 7225 - CRICM, Hôpital Pitié-Salpêtrière, Paris, France, Sorbonne Universités, UPMC Univ Paris 6, Paris, France, UMR_S 975, Paris, France

Françoise Devillard

Affiliation Département de génétique et procréation, Hôpital Couple-Enfant, Grenoble, France

Brigitte Assouline

Affiliation CADIPA, Centre de Ressources Autisme Rhône-Alpes, Saint Egrève, France

Fanny Laffargue

Affiliation Service de Génétique Médicale, Centre Hospitalier Universitaire Estaing, Clermont-Ferrand, France

James Lespinasse

Affiliation UF de Génétique Chromosomique, Centre Hospitalier de Chambéry – Hôtel-dieu, Chambéry, France

Jean Chiesa

Affiliation UF de Cytogénétique et Génétique Médicale, Hôpital Caremeau, Nîmes, France

François Rivier

Affiliations CHRU Montpellier, Neuropédiatrie CR Maladies Neuromusculaires, Montpellier, France, U1046, INSERM, Université Montpellier 1 et 2, Montpellier, France

Dominique Bonneau

Affiliations LUNAM Université, INSERM U1083 et CNRS UMR 6214, Angers, France, Centre Hospitalier Universitaire, Département de Biochimie et Génétique, Angers, France

Beatrice Regnault

Affiliation Eukaryote Genotyping Platform, Genopole, Institut Pasteur, Paris, France

Diana Zelenika

Affiliation Centre National de Génotypage, Evry, France

Marc Delepine

Affiliation Centre National de Génotypage, Evry, France

Mark Lathrop

Affiliation Centre National de Génotypage, Evry, France

Damien Sanlaville

Affiliation Hospices Civils de Lyon, CHU de Lyon, Départment de Génétique, Centre de Recherche en Neurosciences de Lyon, CNRS UMR 5292, INSERM U1028, Claude Bernard Lyon I University, Bron, France

Caroline Schluth-Bolard

Affiliation Hospices Civils de Lyon, CHU de Lyon, Départment de Génétique, Centre de Recherche en Neurosciences de Lyon, CNRS UMR 5292, INSERM U1028, Claude Bernard Lyon I University, Bron, France

Patrick Edery

Affiliation Hospices Civils de Lyon, CHU de Lyon, Départment de Génétique, Centre de Recherche en Neurosciences de Lyon, CNRS UMR 5292, INSERM U1028, Claude Bernard Lyon I University, Bron, France

Laurence Perrin

Affiliation Assistance Publique-Hôpitaux de Paris, Hôpital Robert Debré, Genetic department, Cytogenetic Unit, Paris, France

Anne Claude Tabet

Affiliation Assistance Publique-Hôpitaux de Paris, Hôpital Robert Debré, Genetic department, Cytogenetic Unit, Paris, France

Michael J. Schmeisser

Affiliation Institute for Anatomy and Cell Biology, Ulm University, Ulm, Germany

Tobias M. Boeckers

Affiliation Institute for Anatomy and Cell Biology, Ulm University, Ulm, Germany

Mary Coleman

Affiliation Foundation for Autism Research, Sarasota, Florida, United States of America

Daisuke Sato

Affiliation The Centre for Applied Genomics, The Hospital for Sick Children and the University of Toronto McLaughlin Centre, Toronto, Canada

Peter Szatmari

Affiliation The Centre for Applied Genomics, The Hospital for Sick Children and the University of Toronto McLaughlin Centre, Toronto, Canada

Stephen W. Scherer

Affiliation The Centre for Applied Genomics, The Hospital for Sick Children and the University of Toronto McLaughlin Centre, Toronto, Canada

Guy A. Rouleau

Affiliation Montreal Neurological Institute, McGill University, Montreal, Canada

Catalina Betancur

Affiliations Sorbonne Universités, UPMC Univ Paris 6, Paris, France, INSERM U1130, Paris, France, CNRS UMR 8246, Paris, France

Marion Leboyer

Affiliations FondaMental Foundation, Créteil, France, INSERM U955, Psychiatrie Génétique, Créteil, France, Université Paris Est, Faculté de Médecine, Créteil, France, Assistance Publique-Hôpitaux de Paris, DHU PePSY, Pôle de Psychiatrie et d'Addictologie des Hôpitaux Universitaires Henri Mondor, Créteil, France

Christopher Gillberg

Affiliations Gillberg Neuropsychiatry Centre, University of Gothenburg, Gothenburg, Sweden, Institute of Child Health, University College London, London, United Kingdom

Richard Delorme

Contributed equally to this work with: Richard Delorme, Thomas Bourgeron

Affiliations Institut Pasteur, Human Genetics and Cognitive Functions Unit, Paris, France, CNRS UMR 3571 Genes, Synapses and Cognition, Institut Pasteur, Paris, France, University Paris Diderot, Sorbonne Paris Cité, Human Genetics and Cognitive Functions, Paris, France, Assistance Publique-Hôpitaux de Paris, Robert Debré Hospital, Department of Child and Adolescent Psychiatry, Paris, France, FondaMental Foundation, Créteil, France

Thomas Bourgeron

Contributed equally to this work with: Richard Delorme, Thomas Bourgeron

thomasb@pasteur.fr

Affiliations Institut Pasteur, Human Genetics and Cognitive Functions Unit, Paris, France, CNRS UMR 3571 Genes, Synapses and Cognition, Institut Pasteur, Paris, France, University Paris Diderot, Sorbonne Paris Cité, Human Genetics and Cognitive Functions, Paris, France, FondaMental Foundation, Créteil, France

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: CSL RD TB. Performed the experiments: CSL CN AP GH CS KM NL CMD JGu AR BR MD DS. Analyzed the data: CSL RD TB. Contributed reagents/materials/analysis tools: CN AP JGa SL FG CD KM DP JH EE RT HP AM FA MR ICG GARa RH APM EM PG DH AJ AA AB FD BA FL JL JC FR DB BR DZ MD MLa DSan CSB PE LP ACT MJS TMB MC DSat PS SWS GARo CB MLe CG. Wrote the paper: CSL RD TB.