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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⟩
Article dans une revue 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⟩
Article dans une revue istex pasteur-01470286v1
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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⟩
Article dans une revue 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⟩
Article dans une revue inserm-00124745v1
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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⟩
Article dans une revue hal-03621684v1
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Viva Europa, a Land of Excellence in Research and Innovation for Health and Wellbeing

Charles Auffray , Michael Sagner , Sonia Abdelhak , Ian Adcock , Alvar Agusti , et al.
PROGRESS IN PREVENTIVE MEDICINE, 2017, ⟨10.1097/pp9.0000000000000006⟩
Article dans une revue pasteur-04097586v1
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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⟩
Article dans une revue hal-02347921v1
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Cortico-Cerebellar Neurodynamics during Social Interaction in Autism Spectrum Disorder

Fleur Gaudfernau , Aline Lefebvre , Denis-Alexander Engemann , Amandine Pedoux , Anna Bánki , et al.
2022
Pré-publication, Document de travail hal-03818265v1
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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⟩
Article dans une revue pasteur-03261120v1
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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⟩
Article dans une revue pasteur-01470225v1
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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⟩
Article dans une revue 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⟩
Article dans une revue pasteur-03325403v1
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Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome

Michael Schön , Pablo Lapunzina , Julián Nevado , Teresa Mattina , Cecilia Gunnarsson , et al.
European Journal of Medical Genetics, 2023, 66 (7), pp.104754. ⟨10.1016/j.ejmg.2023.104754⟩
Article dans une revue pasteur-04145566v1
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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⟩
Article dans une revue pasteur-04119437v1

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⟩
Article dans une revue pasteur-01577848v1

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⟩
Article dans une revue pasteur-01580143v1

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⟩
Article dans une revue hal-00408808v1

Behavioral and neuroanatomical analyses in a genetic mouse model of 2q13 duplication.

Keiko Kishimoto , Jun Nomura , Jacob Ellegood , Keita Fukumoto , Jason P Lerch , et al.
Genes to Cells, 2017, 22 (5), pp.436-451. ⟨10.1111/gtc.12487⟩
Article dans une revue pasteur-01577999v1
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Heterozygous FA2H mutations in autism spectrum disorders.

Isabelle Scheid , Anna Maruani , Guillaume Huguet , Claire Leblond , Gudrun Nygren , et al.
BMC Medical Genetics, 2013, 14 (1), pp.124. ⟨10.1186/1471-2350-14-124⟩
Article dans une revue inserm-00918083v1
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Mutation screening of NOS1AP gene in a large sample of psychiatric patients and controls.

Richard Delorme , Catalina Betancur , Isabelle Scheid , Henrik Anckarsäter , Pauline Chaste , et al.
BMC Medical Genetics, 2010, 11, pp.108. ⟨10.1186/1471-2350-11-108⟩
Article dans une revue inserm-00533891v1
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Y chromosome haplogroups in autistic subjects

Stéphane Jamain , Hélène Quach , Lluis Quintana-Murci , Catalina Betancur , Anne Philippe , et al.
Molecular Psychiatry, 2002, 7 (2), pp.217-219. ⟨10.1038/sj.mp.4000968⟩
Article dans une revue inserm-00124377v1

Brain functional connectivity mirrors genetic pleiotropy in psychiatric conditions

Clara A Moreau , Kuldeep Kumar , Annabelle Harvey , Guillaume Huguet , Sebastian G W Urchs , et al.
Brain - A Journal of Neurology , In press, pp.awac315. ⟨10.1093/brain/awac315⟩
Article dans une revue pasteur-04069525v1
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Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders.

Dalila Pinto , Elsa Delaby , Daniele Merico , Mafalda Barbosa , Alison Merikangas , et al.
American Journal of Human Genetics, 2014, 94 (5), pp.677-694. ⟨10.1016/j.ajhg.2014.03.018⟩
Article dans une revue inserm-00986225v1

The Genetic Landscapes of Autism Spectrum Disorders

Guillaume Huguet , Elodie Ey , Thomas Bourgeron
Annual Review of Genomics and Human Genetics, 2013, 14, pp.191 - 213. ⟨10.1146/annurev-genom-091212-153431⟩
Article dans une revue pasteur-01470293v1
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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⟩
Article dans une revue hal-02368034v1

Altered Connectivity Between Cerebellum, Visual, and Sensory-Motor Networks in Autism Spectrum Disorder: Results from the EU-AIMS Longitudinal European Autism Project

Marianne Oldehinkel , Maarten Mennes , Andre Marquand , Tony Charman , Julian Tillmann , et al.
Biological Psychiatry: Cognitive Neuroscience and Neuroimaging, 2018, ⟨10.1016/j.bpsc.2018.11.010⟩
Article dans une revue pasteur-02029576v1
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Neuroanatomical Diversity of Corpus Callosum and Brain Volume in Autism: Meta-analysis, Analysis of the Autism Brain Imaging Data Exchange Project, and Simulation.

Aline Lefebvre , Anita Beggiato , Thomas Bourgeron , Roberto Toro
Biological Psychiatry, 2015, 78 (2), pp.126-34. ⟨10.1016/j.biopsych.2015.02.010⟩
Article dans une revue pasteur-01579758v1
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Current knowledge on the genetics of autism and propositions for future research.

Thomas Bourgeron
Comptes Rendus Biologies, 2016, 339 (7-8), pp.300-7. ⟨10.1016/j.crvi.2016.05.004⟩
Article dans une revue pasteur-01578113v1
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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⟩
Article dans une revue pasteur-03261328v1
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Detecting Central Auditory Processing Disorders in Awake Mice

Camille Dejean , Typhaine Dupont , Elisabeth Verpy , Noémi Gonçalves , Sabrina Coqueran , et al.
Brain Sciences, 2023, 13 (11), pp.1539. ⟨10.3390/brainsci13111539⟩
Article dans une revue pasteur-04361932v1