Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments

• 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

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• 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

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• Anne Polge,

  Affiliation Laboratoire de Biochimie, CHU Nîmes, Nîmes, France

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• Julie Gauthier,

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

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• 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

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• Serge Lumbroso,

  Affiliation Laboratoire de Biochimie, CHU Nîmes, Nîmes, France

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• Fabienne Giuliano,

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

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• 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

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• 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

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• Kevin Mouzat,

  Affiliation Laboratoire de Biochimie, CHU Nîmes, Nîmes, France

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• 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

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• Jennifer Howe,

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

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• 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

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• 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

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• 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

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• 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

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• 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

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• Hugo Peyre,

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

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• 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

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• 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

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• Maria Rastam,

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

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• I. Carina Gillberg,

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

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• Gudrun A. Rappold,

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

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• Richard Holt,

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

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• 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

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• Pilar Galan,

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

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• 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

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• Françoise Devillard,

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

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• Brigitte Assouline,

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

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• Fanny Laffargue,

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

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• James Lespinasse,

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

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• Jean Chiesa,

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

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• 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

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• 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

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• 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

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• 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

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• 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

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•  [ ... ],
• Thomas Bourgeron

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

  * E-mail: 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

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