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Polygenic scores for intelligence, educational attainment and schizophrenia are differentially associated with core autism features, IQ, and adaptive behaviour in autistic individuals

Varun Warrier , Claire S. Leblond , Freddy Cliquet , Aims-2-Trials Leap , Thomas Bourgeron , et al.
Preprints, Working Papers, ... pasteur-03261146v1
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Author Correction : A framework to identify contributing genes in patients with Phelan-McDermid syndrome

Anne-Claude Tabet , Thomas Rolland , Marie Ducloy , Jonathan Levy , Julien Buratti , et al.
npj Genomic Medicine, 2019, 4 (1), pp.16. ⟨10.1038/s41525-019-0090-y⟩
Journal articles hal-02347889v1
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A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability.

Anne-Laure Mosca-Boidron , Lucie Gueneau , Guillaume Huguet , Alice Goldenberg , Céline Henry , et al.
European Journal of Human Genetics, 2016, 24 (6), pp.838-43. ⟨10.1038/ejhg.2015.211⟩
Journal articles pasteur-01342825v1
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Interactive Psychometrics for Autism with the Human Dynamic Clamp: Interpersonal Synchrony from Sensory-motor to Socio-cognitive Domains

Florence Baillin , Aline Lefebvre , Amandine Pedoux , Yann Beauxis , Denis ​ Engemann , et al.
Preprints, Working Papers, ... hal-02396923v1

Anatomy and Cell Biology of Autism Spectrum Disorder: Lessons from Human Genetics.

Kristel T E Kleijer , Guillaume Huguet , Julie Tastet , Thomas Bourgeron , J P H Burbach
Schmeisser M., Boeckers T. Translational Anatomy and Cell Biology of Autism Spectrum Disorder, 224, Springer, pp.1-25, 2017, Advances in Anatomy, Embryology and Cell Biology 978-3-319-52496-2. ⟨10.1007/978-3-319-52498-6_1⟩
Book sections pasteur-01577964v1
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Chapeau UK Biobank! A revolution for integrated research on humans and large-scale data sharing

Thomas Bourgeron
Comptes Rendus. Biologies, 2022, 345 (1), pp.7 - 10. ⟨10.5802/crbiol.76⟩
Journal articles pasteur-04069511v1

Absence of deficits in social behaviors and ultrasonic vocalizations in later generations of mice lacking neuroligin4.

E. Ey , M. Yang , A. M. Katz , L. Woldeyohannes , J. L. Silverman , et al.
Genes, Brain and Behavior, 2012, pp.928-41. ⟨10.1111/j.1601-183X.2012.00849.x⟩
Journal articles pasteur-01470265v1
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Human Pluripotent Stem Cell-derived Cortical Neurons for High Throughput Medication Screening in Autism: A Proof of Concept Study in SHANK3 Haploinsufficiency Syndrome.

Hélène Darville , Aurélie Poulet , Frédérique Rodet-Amsellem , Laure Chatrousse , Julie Pernelle , et al.
EBioMedicine, 2016, 9, pp.293-305. ⟨10.1016/j.ebiom.2016.05.032⟩
Journal articles hal-01326262v1
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Vitamin d in the general population of young adults with autism in the faroe islands.

Eva Kočovská , Guðrið Andorsdóttir , Pál Weihe , Jónrit Halling , Elisabeth Fernell , et al.
Journal of Autism and Developmental Disorders, 2014, 44 (12), pp.2996-3005. ⟨10.1007/s10803-014-2155-1⟩
Journal articles pasteur-01579765v1
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Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia

The Autism Spectrum Disorders Working Group Of The Psychiatric Genomics Consortium , Richard J L Anney , Stephan Ripke , Verneri Anttila , Jakob Grove , et al.
Molecular Autism, 2017, 8, pp.21. ⟨10.1186/s13229-017-0137-9⟩
Journal articles inserm-01535717v1
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Atlas of functional connectivity relationships across rare and common genetic variants, traits, and psychiatric conditions

Clara Moreau , Kuldeep Kumar , Annabelle Harvey , Guillaume Huguet , Sebastian Urchs , et al.
Preprints, Working Papers, ... hal-03364962v1
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Excessive self-grooming of $Shank3$ mutant mice is associated with gene dysregulation and imbalance between the striosome and matrix compartments in the striatum

Allain-Thibeault Ferhat , Anne Biton , Elisabeth Verpy , Benoit Forget , Fabrice de Chaumont , et al.
Preprints, Working Papers, ... hal-03803866v1
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Le projet gnomAD montre l’importance de ne pas avoir qu’un seul génome humain de référence !

Thomas Bourgeron
Comptes Rendus Biologies, 2020, 343 (2), pp.123-125. ⟨10.5802/crbiol.14⟩
Journal articles pasteur-03325389v1
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The functional database of the ARCHI project: Potential and perspectives

Philippe Pinel , Baudouin Forgeot d'Arc , Stanislas Dehaene , Thomas Bourgeron , Bertrand Thirion , et al.
NeuroImage, 2019, 197, pp.527-543. ⟨10.1016/j.neuroimage.2019.04.056⟩
Journal articles pasteur-03325415v1
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Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism.

Stéphane Jamain , Hélène Quach , Catalina Betancur , Maria Råstam , Catherine Colineaux , et al.
Nature Genetics, 2003, 34 (1), pp.27-9. ⟨10.1038/ng1136⟩
Journal articles inserm-00124744v1
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Expression and genetic variability of PCDH11Y, a gene specific to Homo sapiens and candidate for susceptibility to psychiatric disorders.

Christelle M. Durand , Caroline Kappeler , Catalina Betancur , Richard Delorme , Hélène Quach , et al.
Am J Med Genet B Neuropsychiatr Genet, 2006, 141 (1), pp.67-70. ⟨10.1002/ajmg.b.30229⟩
Journal articles inserm-00124745v1

Reduced social interaction and ultrasonic communication in a mouse model of monogenic heritable autism.

Stephane Jamain , Konstantin Radyushkin , Kurt Hammerschmidt , Sylvie Granon , Susann Boretius , et al.
Proceedings of the National Academy of Sciences of the United States of America, 2008, 105 (5), pp.1710-1715. ⟨10.1073/pnas.0711555105⟩
Journal articles hal-00408808v1
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Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome

Aline Vitrac , Claire Leblond , Thomas Rolland , Freddy Cliquet , Mathieu Alexandre , et al.
European Journal of Medical Genetics, 2023, 66 (5), pp.104732. ⟨10.1016/j.ejmg.2023.104732⟩
Journal articles pasteur-04119437v1
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Mutations associated with neuropsychiatric conditions delineate functional brain connectivity dimensions contributing to autism and schizophrenia

Clara A. Moreau , Sebastian G. W. Urchs , Kumar Kuldeep , Pierre Orban , Catherine Schramm , et al.
Nature Communications, 2020, 11 (1), pp.5272. ⟨10.1038/s41467-020-18997-2⟩
Journal articles pasteur-03325396v1
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The role of rare compound heterozygous events in autism spectrum disorder

Bochao Danae Lin , Fabrice Colas , Isaac J. Nijman , Jelena Medic , William Brands , et al.
Translational Psychiatry, 2020, 10 (1), pp.204. ⟨10.1038/s41398-020-00866-7⟩
Journal articles pasteur-03325403v1
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A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder

Livia Loureiro , Jennifer L. Howe , Miriam Reuter , Alana Iaboni , Kristina Calli , et al.
npj Genomic Medicine, 2021, 6 (1), pp.91. ⟨10.1038/s41525-021-00254-0⟩
Journal articles hal-03621684v1

Genetic and functional abnormalities of the melatonin biosynthesis pathway in patients with bipolar disorder.

Bruno Etain , Anne Dumaine , Frank Bellivier , Cécile Pagan , Laetitia Francelle , et al.
Human Molecular Genetics, 2012, 21 (18), pp.4030-7. ⟨10.1093/hmg/dds227⟩
Journal articles pasteur-01580143v1

Behavioural Phenotypes and Neural Circuit Dysfunctions in Mouse Models of Autism Spectrum Disorder.

Allain-Thibeault Ferhat , Sonja Halbedl , Michael J Schmeisser , Martien J Kas , Thomas Bourgeron , et al.
Advances in Anatomy Embryology and Cell Biology, 2017, Translational Anatomy and Cell Biology of Autism Spectrum Disorder, 224, pp.85-101. ⟨10.1007/978-3-319-52498-6_5⟩
Journal articles pasteur-01577848v1
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SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism

Nathalie Sans , Christelle M Durand , Julie Perroy , Francois Loll , David Perrais , et al.
Molecular Psychiatry, 2011, ⟨10.1038/mp.2011.57⟩
Journal articles hal-00644264v1

Behavioral profiles of mouse models for autism spectrum disorders

Elodie Ey , Claire S. Leblond , Thomas Bourgeron
Autism Research, 2011, 4 (1), pp.5 - 16. ⟨10.1002/aur.175⟩
Journal articles istex pasteur-01470286v1
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Social communication in mice--are there optimal cage conditions?

Allain-Thibeault Ferhat , Anne-Marie Le Sourd , Fabrice de Chaumont , Jean-Christophe Olivo-Marin , Thomas Bourgeron , et al.
PLoS ONE, 2015, 10 (3), pp.e0121802. ⟨10.1371/journal.pone.0121802⟩
Journal articles pasteur-01470225v1
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Decreased phenol sulfotransferase activities associated with hyperserotonemia in autism spectrum disorders

Cécile Pagan , Marion Benabou , Claire Leblond , Freddy Cliquet , Alexandre Mathieu , et al.
Translational Psychiatry, 2021, 11 (1), pp.23. ⟨10.1038/s41398-020-01125-5⟩
Journal articles pasteur-03261120v1
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Heritability of the melatonin synthesis variability in autism spectrum disorders

Marion Benabou , Thomas Rolland , Claire Leblond , Gaël Millot , Guillaume Huguet , et al.
Scientific Reports, 2017, 7 (1), pp.17746. ⟨10.1038/s41598-017-18016-3⟩
Journal articles hal-02347921v1
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Synesthesia & autistic features in a large family: Evidence for spatial imagery as a common factor

Lucie Bouvet , Frederique Amsellem , Anna Maruani , Adelaïde Tonus-Vic Dupont , Mathieu Alexandre , et al.
Behavioural Brain Research, 2019, 362, pp.266-272. ⟨10.1016/j.bbr.2019.01.014⟩
Journal articles hal-02368034v1
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Operative list of genes associated with autism and neurodevelopmental disorders based on database review

Claire S. Leblond , Thuy-Linh Le , Simon Malesys , Freddy Cliquet , Anne-Claude Tabet , et al.
Molecular and Cellular Neuroscience, 2021, 113, pp.103623. ⟨10.1016/j.mcn.2021.103623⟩
Journal articles pasteur-03261328v1