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1. Phenotypic effects of genetic variants associated with autism

Author

Rolland, Thomas, Cliquet, Freddy, Anney, Richard J. L., Moreau, Clara, Traut, Nicolas, Mathieu, Alexandre, Huguet, Guillaume, Duan, Jinjie, Warrier, Varun, Portalier, Swan, Dry, Louise, Leblond, Claire S., Douard, Elise, Amsellem, Frédérique, Malesys, Simon, Maruani, Anna, Toro, Roberto, Børglum, Anders D., Grove, Jakob, Baron-Cohen, Simon, Packer, Alan, Chung, Wendy K., Jacquemont, Sébastien, Delorme, Richard, and Bourgeron, Thomas

Published
2023
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2. Cross-sectional and longitudinal neuroanatomical profiles of distinct clinical (adaptive) outcomes in autism

Author

Pretzsch, Charlotte M., Floris, Dorothea L., Schäfer, Tim, Bletsch, Anke, Gurr, Caroline, Lombardo, Michael V., Chatham, Chris H., Tillmann, Julian, Charman, Tony, Arenella, Martina, Jones, Emily, Ambrosino, Sara, Bourgeron, Thomas, Dumas, Guillaume, Cliquet, Freddy, Leblond, Claire S., Loth, Eva, Oakley, Bethany, Buitelaar, Jan K., Baron-Cohen, Simon, Beckmann, Christian F., Persico, Antonio M., Banaschewski, Tobias, Durston, Sarah, Freitag, Christine M., Murphy, Declan G. M., and Ecker, Christine

Published
2023
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3. Genetic correlates of phenotypic heterogeneity in autism

Author

Warrier, Varun, Zhang, Xinhe, Reed, Patrick, Havdahl, Alexandra, Moore, Tyler M., Cliquet, Freddy, Leblond, Claire S., Rolland, Thomas, Rosengren, Anders, Rowitch, David H., Hurles, Matthew E., Geschwind, Daniel H., Børglum, Anders D., Robinson, Elise B., Grove, Jakob, Martin, Hilary C., Bourgeron, Thomas, and Baron-Cohen, Simon

Published
2022
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4. European Autism GEnomics Registry (EAGER): protocol for a multicentre cohort study and registry

Author

Bloomfield, Madeleine, primary, Lautarescu, Alexandra, additional, Heraty, Síofra, additional, Douglas, Sarah, additional, Violland, Pierre, additional, Plas, Roderik, additional, Ghosh, Anjuli, additional, Van den Bosch, Katrien, additional, Eaton, Eliza, additional, Absoud, Michael, additional, Battini, Roberta, additional, Blázquez Hinojosa, Ana, additional, Bolshakova, Nadia, additional, Bölte, Sven, additional, Bonanni, Paolo, additional, Borg, Jacqueline, additional, Calderoni, Sara, additional, Calvo Escalona, Rosa, additional, Castelo-Branco, Miguel, additional, Castro-Fornieles, Josefina, additional, Caro, Pilar, additional, Cliquet, Freddy, additional, Danieli, Alberto, additional, Delorme, Richard, additional, Elia, Maurizio, additional, Hempel, Maja, additional, Leblond, Claire S, additional, Madeira, Nuno, additional, McAlonan, Grainne, additional, Milone, Roberta, additional, Molloy, Ciara J, additional, Mouga, Susana, additional, Montiel, Virginia, additional, Pina Rodrigues, Ana, additional, Schaaf, Christian P, additional, Serrano, Mercedes, additional, Tammimies, Kristiina, additional, Tye, Charlotte, additional, Vigevano, Federico, additional, Oliveira, Guiomar, additional, Mazzone, Beatrice, additional, O’Neill, Cara, additional, Pender, Julie, additional, Romero, Verena, additional, Tillmann, Julian, additional, Oakley, Bethany, additional, Murphy, Declan G M, additional, Gallagher, Louise, additional, Bourgeron, Thomas, additional, Chatham, Christopher, additional, and Charman, Tony, additional

Published
2024
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5. Qualitative differences in the spatiotemporal brain states supporting configural face processing emerge in adolescence in autism

Author

Ahmad, Jumana, Ambrosino, Sara, Banaschewski, Tobias, Baron-Cohen, Simon, Bast, Nico, Baumeister, Sarah, Beckmann, Christian, Bölte, Sven, Bourgeron, Thomas, Bours, Carsten, Brandeis, Daniel, Cornelissen, Ineke, Crawley, Daisy, Davidson, Cate, Dell’ Acqua, Flavio, Durston, Sarah, Ecker, Christine, Ellis, Claire, Faulkner, Jessica, Hayward, Hannah, Hipp, Joerg, Holt, Rosemary, Lai, Meng-Chuan, Leblond, Claire, Meyer-Lindenberg, Andreas, Moessnang, Carolin, Oakley, Bethany, O'Dwyer, Larry, Persico, Antonio, Rausch, Annika, Sabet, Jessica, San Jose Caceres, Antonia, Simonoff, Emily, Tost, Heike, Rhein, Daniel von, Haartsen, Rianne, Mason, Luke, Garces, Pilar, Gui, Anna, Charman, Tony, Tillmann, Julian, Johnson, Mark H., Buitelaar, Jan K., Loth, Eva, Murphy, Declan, and Jones, Emily J.H.

Published
2022
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8. Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features

Author

Rafiq, Muhammad Arshad, Leblond, Claire S, Saqib, Muhammad Arif Nadeem, Vincent, Akshita K, Ambalavanan, Amirthagowri, Khan, Falak Sher, Ayaz, Muhammad, Shaheen, Naseema, Spiegelman, Dan, Ali, Ghazanfar, Amin-ud-din, Muhammad, Laurent, Sandra, Mahmood, Huda, Christian, Mehtab, Ali, Nadir, Fennell, Alanna, Nanjiani, Zohair, Egger, Gerald, Caron, Chantal, Waqas, Ahmed, Ayub, Muhammad, Rasheed, Saima, Forgeot d’Arc, Baudouin, Johnson, Amelie, So, Joyce, Brohi, Muhammad Qasim, Mottron, Laurent, Ansar, Muhammad, Vincent, John B, and Xiong, Lan

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Genetics, Mental Health, Pediatric, Rare Diseases, Clinical Research, Intellectual and Developmental Disabilities (IDD), Autism, Brain Disorders, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Congenital, Mental health, Abnormalities, Multiple, Autistic Disorder, Base Sequence, Developmental Disabilities, Female, Fingers, Genes, Recessive, Genotype, Haplotypes, Homozygote, Humans, Intellectual Disability, Male, Microcephaly, Molecular Sequence Data, Muscle Hypotonia, Myopia, Obesity, Pakistan, Pedigree, Phenotype, Retinal Degeneration, Sequence Analysis, DNA, Sequence Deletion, Vesicular Transport Proteins, Clinical Sciences, Genetics & Heredity, Clinical sciences
Abstract

BackgroundCohen Syndrome (COH1) is a rare autosomal recessive disorder, principally identified by ocular, neural and muscular deficits. We identified three large consanguineous Pakistani families with intellectual disability and in some cases with autistic traits.MethodsClinical assessments were performed in order to allow comparison of clinical features with other VPS13B mutations. Homozygosity mapping followed by whole exome sequencing and Sanger sequencing strategies were used to identify disease-related mutations.ResultsWe identified two novel homozygous deletion mutations in VPS13B, firstly a 1 bp deletion, NM_017890.4:c.6879delT; p.Phe2293Leufs*24, and secondly a deletion of exons 37-40, which co-segregate with affected status. In addition to COH1-related traits, autistic features were reported in a number of family members, contrasting with the "friendly" demeanour often associated with COH1. The c.6879delT mutation is present in two families from different regions of the country, but both from the Baloch sub-ethnic group, and with a shared haplotype, indicating a founder effect among the Baloch population.ConclusionWe suspect that the c.6879delT mutation may be a common cause of COH1 and similar phenotypes among the Baloch population. Additionally, most of the individuals with the c.6879delT mutation in these two families also present with autistic like traits, and suggests that this variant may lead to a distinct autistic-like COH1 subgroup.

Published
2015

10. Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis

Author

Kaneb, Hannah M, Folkmann, Andrew W, Belzil, Véronique V, Jao, Li-En, Leblond, Claire S, Girard, Simon L, Daoud, Hussein, Noreau, Anne, Rochefort, Daniel, Hince, Pascale, Szuto, Anna, Levert, Annie, Vidal, Sabrina, André-Guimont, Catherine, Camu, William, Bouchard, Jean-Pierre, Dupré, Nicolas, Rouleau, Guy A, Wente, Susan R, and Dion, Patrick A

Subjects
Biochemistry and Cell Biology, Bioinformatics and Computational Biology, Genetics, Biological Sciences, Rare Diseases, Neurosciences, Brain Disorders, ALS, Neurodegenerative, Orphan Drug, 2.1 Biological and endogenous factors, Aetiology, Neurological, Amyotrophic Lateral Sclerosis, Animals, Arthrogryposis, Codon, Nonsense, DNA-Binding Proteins, Disease Models, Animal, Haploinsufficiency, HeLa Cells, Humans, Microscopy, Confocal, Motor Neurons, Mutation, Missense, Nuclear Pore, Nucleocytoplasmic Transport Proteins, Pedigree, Protein Processing, Post-Translational, RNA Splicing, RNA, Messenger, Zebrafish, Hela Cells, Medical and Health Sciences, Genetics & Heredity
Abstract

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder characterized by the selective death of motor neurons. Causative mutations in the global RNA-processing proteins TDP-43 and FUS among others, as well as their aggregation in ALS patients, have identified defects in RNA metabolism as an important feature in this disease. Lethal congenital contracture syndrome 1 and lethal arthrogryposis with anterior horn cell disease are autosomal recessive fetal motor neuron diseases that are caused by mutations in another global RNA-processing protein, hGle1. In this study, we carried out the first screening of GLE1 in ALS patients (173 familial and 760 sporadic) and identified 2 deleterious mutations (1 splice site and 1 nonsense mutation) and 1 missense mutation. Functional analysis of the deleterious mutants revealed them to be unable to rescue motor neuron pathology in zebrafish morphants lacking Gle1. Furthermore, in HeLa cells, both mutations caused a depletion of hGle1 at the nuclear pore where it carries out an essential role in nuclear export of mRNA. These results suggest a haploinsufficiency mechanism and point to a causative role for GLE1 mutations in ALS patients. This further supports the involvement of global defects in RNA metabolism in ALS.

Published
2015

14. Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome

Author

Vitrac, Aline, primary, Leblond, Claire S., additional, Rolland, Thomas, additional, Cliquet, Freddy, additional, Mathieu, Alexandre, additional, Maruani, Anna, additional, Delorme, Richard, additional, Schön, Michael, additional, Grabrucker, Andreas M., additional, van Ravenswaaij-Arts, Conny, additional, Phelan, Katy, additional, Tabet, Anne-Claude, additional, and Bourgeron, Thomas, additional

Published
2023
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15. Both rare and common genetic variants contribute to autism in the Faroe Islands

Author

Leblond, Claire S, Cliquet, Freddy, Carton, Coralie, Huguet, Guillaume, Mathieu, Alexandre, Kergrohen, Thomas, Buratti, Julien, Lemière, Nathalie, Cuisset, Laurence, Bienvenu, Thierry, Boland, Anne, Deleuze, Jean-François, Stora, Tormodur, Biskupstoe, Rannva, Halling, Jónrit, Andorsdóttir, Guðrið, Billstedt, Eva, Gillberg, Christopher, and Bourgeron, Thomas

Published
2019
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16. Altered spinogenesis in iPSC-derived cortical neurons from patients with autism carrying de novo SHANK3 mutations

Author

Gouder, Laura, Vitrac, Aline, Goubran-Botros, Hany, Danckaert, Anne, Tinevez, Jean-Yves, André-Leroux, Gwenaëlle, Atanasova, Ekaterina, Lemière, Nathalie, Biton, Anne, Leblond, Claire S., Poulet, Aurélie, Boland, Anne, Deleuze, Jean-François, Benchoua, Alexandra, Delorme, Richard, Bourgeron, Thomas, and Cloëz-Tayarani, Isabelle

Published
2019
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18. Neurobiological Correlates of Change in Adaptive Behavior in Autism

Author

Pretzsch, Charlotte, Schäfer, Tim, Lombardo, Michael, Warrier, Varun, Mann, Caroline, Bletsch, Anke, Chatham, Chris, Floris, Dorothea, Tillmann, Julian, Yousaf, Afsheen, Jones, Emily, Charman, Tony, Ambrosino, Sara, Bourgeron, Thomas, Dumas, Guillaume, Loth, Eva, Oakley, Bethany, Buitelaar, Jan, Cliquet, Freddy, Leblond, Claire, Baron-Cohen, Simon, Beckmann, Christian, Banaschewski, Tobias, Durston, Sarah, Freitag, Christine, LEAP Group, Eu-Aims, Murphy, Declan G.M., Ecker, Christine, Institute of Psychiatry, Psychology & Neuroscience, King's College London, King‘s College London, Frankfurt University Hospital, Goethe-University Frankfurt am Main, University of Trento [Trento], University of Cambridge [UK] (CAM), F. Hoffmann-La Roche [Basel], Universität Zürich [Zürich] = University of Zurich (UZH), University of Vienna [Vienna], Centre for Brain and Cognitive Development [Birkbeck College], Birkbeck College [University of London], Utrecht University [Utrecht], Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Donders Institute for Brain, Cognition and Behaviour, Radboud University [Nijmegen], Radboud University Medical Center [Nijmegen], University Hospital Mannheim | Universitätsmedizin Mannheim, Heidelberg University, University Medical Center [Utrecht], European Project: 115300,EC:FP7:SP1-JTI,IMI-JU-03-2010,EU-AIMS(2012), and European Project: 777394,H2020-JTI-IMI2-2016-10-two-stage,AIMS-2-TRIALS(2018)

Subjects
Psychiatry and Mental health, All institutes and research themes of the Radboud University Medical Center, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Autism Spectrum Disorder, 130 000 Cognitive Neurology & Memory, [SCCO.NEUR]Cognitive science/Neuroscience, Adaptation, Psychological, 220 Statistical Imaging Neuroscience, Humans, Autistic Disorder, Magnetic Resonance Imaging, Follow-Up Studies
Abstract

Objective:Autism spectrum disorder (ASD) is a lifelong neurodevelopmental condition that is associated with significant difficulties in adaptive behavior and variation in clinical outcomes across the life span. Some individuals with ASD improve, whereas others may not change significantly, or regress. Hence, the development of “personalized medicine” approaches is essential. However, this requires an understanding of the biological processes underpinning differences in clinical outcome, at both the individual and subgroup levels, across the lifespan.Methods:The authors conducted a longitudinal follow-up study of 483 individuals (204 with ASD and 279 neurotypical individuals, ages 6–30 years), with assessment time points separated by ∼12–24 months. Data collected included behavioral data (Vineland Adaptive Behavior Scale–II), neuroanatomical data (structural MRI), and genetic data (DNA). Individuals with ASD were grouped into clinically meaningful “increasers,” “no-changers,” and “decreasers” in adaptive behavior. First, the authors compared neuroanatomy between outcome groups. Next, they examined whether deviations from the neurotypical neuroanatomical profile were associated with outcome at the individual level. Finally, they explored the observed neuroanatomical differences’ potential genetic underpinnings.Results:Outcome groups differed in neuroanatomical features (cortical volume and thickness, surface area), including in “social brain” regions previously implicated in ASD. Also, deviations of neuroanatomical features from the neurotypical profile predicted outcome at the individual level. Moreover, neuroanatomical differences were associated with genetic processes relevant to neuroanatomical phenotypes (e.g., synaptic development).Conclusions:This study demonstrates, for the first time, that variation in clinical (adaptive) outcome is associated with both group- and individual-level variation in anatomy of brain regions enriched for genes relevant to ASD. This may facilitate the move toward better targeted/precision medicine approaches.

Published
2022

19. Tackling hypo and hyper sensory processing heterogeneity in autism: From clinical stratification to genetic pathways

Author

Lefebvre, Aline, Tillmann, Julian, Cliquet, Freddy, Amsellem, Frederique, Maruani, Anna, Leblond, Claire, Beggiato, Anita, Germanaud, David, Amestoy, Anouck, Ly-Le Moal, Myriam, Umbricht, Daniel, Chatham, Christopher, Murtagh, Lorraine, Bouvard, Manuel, Leboyer, Marion, Charman, Tony, Bourgeron, Thomas, Delorme, Richard, Dumas, Guillaume, Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Psychiatrie de l'enfant et de l'adolescent [Robert-Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Centre hospitalier Fondation Vallée [Gentilly, France] (CHS), Roche Pharma Research and Early Development [Basel] (pRED), F. Hoffmann-La Roche [Basel], Centre de Référence Déficiences Intellectuelles de causes rares / Rare Disease Reference Center for Intellectual Disability [CHU Robert Debré, AP-HP], AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre hospitalier Charles Perrens [Bordeaux], Fondation FondaMental [Créteil], Institut ROCHE [Boulogne-Billancourt], Roche S.A.S, Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Pôle de Psychiatrie [Hôpital Henri Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital H. Mondor - A. Chenevier, King‘s College London, Service psychiatrique de l'enfant et de l'adolescent [CHU Hôpital Robert Debré], Centre de recherche du CHU Sainte-Justine / Research Center of the Sainte-Justine University Hospital [Montreal, Canada], Université de Montréal (UdeM)-CHU Sainte Justine [Montréal], APHP, Autism Speaks, Autistica and Simons Foundation Autism Research Initiative, DHU protect, European Federation of Pharmaceutical Industries and Associations, European Federation of Pharmaceutical Industries and Associations companies, European Union's Horizon 2020, European Union's Seventh Framework Program, Grant/Award Number: FP7/2007-2013, Fondation a la Recherche Medicale, Fondation de France, Fondation FondaMental, French National Center for Scientific Research, Grant/Award Number: ANR-11-IDEX-0004-02 ANR-10-COHO-10-01 ANR-12-SAMA-0014, Innovative Medicines Initiative 2 Joint Undertaking Grant, Grant/Award Number: 777394, Innovative Medicines Initiative Joint Undertaking, Grant/Award Number: 115300, Innovative Medicines Initiative Joint Undertaking Grant, Institut National de la Santé et de la Recherche Médicale, Institut Pasteur, Grant/Award Number: C07-33, Investissements d'Avenir program, Labex BioPsy, Medical Research Foundation, Roche Institute for Research and Translational Medicine, EU-AIMS LEAP group, ANR-11-IDEX-0004,SUPER,Sorbonne Universités à Paris pour l'Enseignement et la Recherche(2011), ANR-12-SAMA-0014,AutoMobil,Encéphalite avec autoanticorps anti-récepteurs synaptiques : un nouveau modèle de troubles psychotiques(2012), ANR-10-COHO-0010,Psy-COH,FondaMental-Cohortes(2010), European Project: 115300,EC:FP7:SP1-JTI,IMI-JU-03-2010,EU-AIMS(2012), European Project: 777394,H2020-JTI-IMI2-2016-10-two-stage,AIMS-2-TRIALS(2018), European Project: AIMS-2-TRIALS, Cliquet, Freddy, Sorbonne Universités à Paris pour l'Enseignement et la Recherche - - SUPER2011 - ANR-11-IDEX-0004 - IDEX - VALID, Santé Mentale et Addictions - Encéphalite avec autoanticorps anti-récepteurs synaptiques : un nouveau modèle de troubles psychotiques - - AutoMobil2012 - ANR-12-SAMA-0014 - SAMENTA - VALID, Cohortes - FondaMental-Cohortes - - Psy-COH2010 - ANR-10-COHO-0010 - COHO - VALID, European Autism Interventions - A Multicentre Study for Developing New Medications - EU-AIMS - - EC:FP7:SP1-JTI2012-04-01 - 2017-03-31 - 115300 - VALID, and Autism Innovative Medicine Studies-2-Trials - AIMS-2-TRIALS - INCOMING

Subjects
GABA/glutamatergic pathway, excitation and inhibition balance, General Neuroscience, [SCCO.NEUR]Cognitive science/Neuroscience, [SCCO.NEUR] Cognitive science/Neuroscience, autism, sensory profile, autism spectrum disorder, Neurology (clinical), clinical marker, Genetics (clinical)
Abstract

International audience; As an integral part of autism spectrum symptoms, sensory processing issues including both hypo and hyper sensory sensitivities. These sensory specificities may result from an excitation/inhibition imbalance with a poorly understood of their level of convergence with genetic alterations in GABA-ergic and glutamatergic pathways. In our study, we aimed to characterize the hypo/hyper-sensory profile among autistic individuals. We then explored its link with the burden of deleterious mutations in a subset of individuals with available whole-genome sequencing data. To characterize the hypo/hyper-sensory profile, the differential Short Sensory Profile (dSSP) was defined as a normalized and centralized hypo/hypersensitivity ratio from the Short Sensory Profile (SSP). Including 1136 participants (533 autistic individuals, 210 first-degree relatives, and 267 controls) from two independent study samples (PARIS and LEAP), we observed a statistically significant dSSP mean difference between autistic individuals and controls, driven mostly by a high dSSP variability, with an intermediated profile represented by relatives. Our genetic analysis tended to associate the dSSP and the hyposensitivity with mutations of the GABAergic pathway. The major limitation was the dSSP difficulty to discriminate subjects with a similar quantum of hypo- and hyper-sensory symptoms to those with no such symptoms, resulting both in a similar ratio score of 0. However, the dSSP could be a relevant clinical score, and combined with additional sensory descriptions, genetics and endophenotypic substrates, will improve the exploration of the underlying neurobiological mechanisms of sensory processing differences in autism spectrum.

Published
2023

22. Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome

Author

Tabet, Anne-Claude, Rolland, Thomas, Ducloy, Marie, Lévy, Jonathan, Buratti, Julien, Mathieu, Alexandre, Haye, Damien, Perrin, Laurence, Dupont, Céline, Passemard, Sandrine, Capri, Yline, Verloes, Alain, Drunat, Séverine, Keren, Boris, Mignot, Cyril, Marey, Isabelle, Jacquette, Aurélia, Whalen, Sandra, Pipiras, Eva, Benzacken, Brigitte, Chantot-Bastaraud, Sandra, Afenjar, Alexandra, Héron, Delphine, Le Caignec, Cédric, Beneteau, Claire, Pichon, Olivier, Isidor, Bertrand, David, Albert, El Khattabi, Laila, Kemeny, Stephan, Gouas, Laetitia, Vago, Philippe, Mosca-Boidron, Anne-Laure, Faivre, Laurence, Missirian, Chantal, Philip, Nicole, Sanlaville, Damien, Edery, Patrick, Satre, Véronique, Coutton, Charles, Devillard, Françoise, Dieterich, Klaus, Vuillaume, Marie-Laure, Rooryck, Caroline, Lacombe, Didier, Pinson, Lucile, Gatinois, Vincent, Puechberty, Jacques, Chiesa, Jean, Lespinasse, James, Dubourg, Christèle, Quelin, Chloé, Fradin, Mélanie, Journel, Hubert, Toutain, Annick, Martin, Dominique, Benmansour, Abdelamdjid, Leblond, Claire S., Toro, Roberto, Amsellem, Frédérique, Delorme, Richard, and Bourgeron, Thomas

Published
2019
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26. Genetic markers of Restless Legs Syndrome in Parkinson disease

Author

Gan-Or, Ziv, Alcalay, Roy N., Bar-Shira, Anat, Leblond, Claire S., Postuma, Ronald B., Ben-Shachar, Shay, Waters, Cheryl, Johnson, Amelie, Levy, Oren, Mirelman, Anat, Gana-Weisz, Mali, Dupré, Nicolas, Montplaisir, Jacques, Giladi, Nir, Fahn, Stanley, Xiong, Lan, Dion, Patrick A., Orr-Urtreger, Avi, and Rouleau, Guy A.

Published
2015
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27. Qualitative differences in the spatiotemporal brain states supporting configural face processing emerge in adolescence in autism

Author

Haartsen, Rianne, primary, Mason, Luke, additional, Garces, Pilar, additional, Gui, Anna, additional, Charman, Tony, additional, Tillmann, Julian, additional, Johnson, Mark H., additional, Buitelaar, Jan K., additional, Loth, Eva, additional, Murphy, Declan, additional, Jones, Emily J.H., additional, Ahmad, Jumana, additional, Ambrosino, Sara, additional, Banaschewski, Tobias, additional, Baron-Cohen, Simon, additional, Bast, Nico, additional, Baumeister, Sarah, additional, Beckmann, Christian, additional, Bölte, Sven, additional, Bourgeron, Thomas, additional, Bours, Carsten, additional, Brandeis, Daniel, additional, Cornelissen, Ineke, additional, Crawley, Daisy, additional, Davidson, Cate, additional, Dell’ Acqua, Flavio, additional, Durston, Sarah, additional, Ecker, Christine, additional, Ellis, Claire, additional, Faulkner, Jessica, additional, Hayward, Hannah, additional, Hipp, Joerg, additional, Holt, Rosemary, additional, Lai, Meng-Chuan, additional, Leblond, Claire, additional, Meyer-Lindenberg, Andreas, additional, Moessnang, Carolin, additional, Oakley, Bethany, additional, O'Dwyer, Larry, additional, Persico, Antonio, additional, Rausch, Annika, additional, Sabet, Jessica, additional, San Jose Caceres, Antonia, additional, Simonoff, Emily, additional, Tost, Heike, additional, and Rhein, Daniel von, additional

Published
2022
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28. Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

Author

FALS Sequencing Consortium, Cirulli, Elizabeth T., Lasseigne, Brittany N., Petrovski, Slavé, Sapp, Peter C., Dion, Patrick A., Leblond, Claire S., Couthouis, Julien, Lu, Yi-Fan, Wang, Quanli, Krueger, Brian J., Ren, Zhong, Keebler, Jonathan, Han, Yujun, Levy, Shawn E., Boone, Braden E., Wimbish, Jack R., Waite, Lindsay L., Jones, Angela L., Carulli, John P., Day-Williams, Aaron G., Staropoli, John F., Xin, Winnie W., Chesi, Alessandra, Raphael, Alya R., McKenna-Yasek, Diane, Cady, Janet, de Jong, J. M. B. Vianney, Kenna, Kevin P., Smith, Bradley N., Topp, Simon, Miller, Jack, Gkazi, Athina, Al-Chalabi, Ammar, van den Berg, Leonard H., Veldink, Jan, Silani, Vincenzo, Ticozzi, Nicola, Shaw, Christopher E., Baloh, Robert H., Appel, Stanley, Simpson, Ericka, Lagier-Tourenne, Clotilde, Pulst, Stefan M., Gibson, Summer, Trojanowski, John Q., Elman, Lauren, McCluskey, Leo, Grossman, Murray, Shneider, Neil A., Chung, Wendy K., Ravits, John M., Glass, Jonathan D., Sims, Katherine B., Van Deerlin, Vivianna M., Maniatis, Tom, Hayes, Sebastian D., Ordureau, Alban, Swarup, Sharan, Landers, John, Baas, Frank, Allen, Andrew S., Bedlack, Richard S., Harper, J. Wade, Gitler, Aaron D., Rouleau, Guy A., Brown, Robert, Harms, Matthew B., Cooper, Gregory M., Harris, Tim, Myers, Richard M., and Goldstein, David B.

Published
2015

30. Stratifying the autistic phenotype using electrophysiological indices of social perception

Author

Mason, Luke, primary, Moessnang, Carolin, additional, Chatham, Christopher, additional, Ham, Lindsay, additional, Tillmann, Julian, additional, Dumas, Guillaume, additional, Ellis, Claire, additional, Leblond, Claire S., additional, Cliquet, Freddy, additional, Bourgeron, Thomas, additional, Beckmann, Christian, additional, Charman, Tony, additional, Oakley, Beth, additional, Banaschewski, Tobias, additional, Meyer-Lindenberg, Andreas, additional, Baron-Cohen, Simon, additional, Bölte, Sven, additional, Buitelaar, Jan K., additional, Durston, Sarah, additional, Loth, Eva, additional, Oranje, Bob, additional, Persico, Antonio, additional, Dell’Acqua, Flavio, additional, Ecker, Christine, additional, Johnson, Mark H., additional, Murphy, Declan, additional, and Jones, Emily J. H., additional

Published
2022
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32. Interindividual Differences in Cortical Thickness and Their Genomic Underpinnings in Autism Spectrum Disorder

Author

Ecker, Christine, primary, Pretzsch, Charlotte M., additional, Bletsch, Anke, additional, Mann, Caroline, additional, Schaefer, Tim, additional, Ambrosino, Sara, additional, Tillmann, Julian, additional, Yousaf, Afsheen, additional, Chiocchetti, Andreas, additional, Lombardo, Michael V., additional, Warrier, Varun, additional, Bast, Nico, additional, Moessnang, Carolin, additional, Baumeister, Sarah, additional, Dell’Acqua, Flavio, additional, Floris, Dorothea L., additional, Zabihi, Mariam, additional, Marquand, Andre, additional, Cliquet, Freddy, additional, Leblond, Claire, additional, Moreau, Clara, additional, Puts, Nick, additional, Banaschewski, Tobias, additional, Jones, Emily J.H., additional, Mason, Luke, additional, Bölte, Sven, additional, Meyer-Lindenberg, Andreas, additional, Persico, Antonio M., additional, Durston, Sarah, additional, Baron-Cohen, Simon, additional, Spooren, Will, additional, Loth, Eva, additional, Freitag, Christine M., additional, Charman, Tony, additional, Dumas, Guillaume, additional, Bourgeron, Thomas, additional, Beckmann, Christian F., additional, Buitelaar, Jan K., additional, and Murphy, Declan G.M., additional

Published
2022
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33. Hypo- and hyper- sensory processing heterogeneity in Autism Spectrum Disorder

Author

Lefebvre, Aline, primary, Tillmann, Julian, additional, Cliquet, Freddy, additional, Amsellem, Frederique, additional, Maruani, Anna, additional, Leblond, Claire, additional, Beggiato, Anita, additional, Germanaud, David, additional, Amestoy, Anouck, additional, Moal, Myriam Ly-Le, additional, Umbricht, Daniel, additional, Chattam, Christopher, additional, Murtagh, Lorraine, additional, Bouvard, Manuel, additional, Leboyer, Marion, additional, Charman, Tony, additional, Bourgeron, Thomas, additional, Delorme, Richard, additional, and Dumas, Guillaume, additional

Published
2021
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35. Polygenic scores for intelligence, educational attainment and schizophrenia are differentially associated with core autism features, IQ, and adaptive behaviour in autistic individuals

Author

Warrier, Varun, Leblond, Claire, Cliquet, Freddy, Leap, Aims-2-Trials, Bourgeron, Thomas, Baron-Cohen, Simon, University of Cambridge [UK] (CAM), Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Centre National de la Recherche Scientifique (CNRS)-Institut Pasteur [Paris]-Université de Paris (UP), V.W. is funded by St. Catharines College, Cambridge. This study was funded by grants to SBC from the Medical Research Council, the Wellcome Trust, the Autism Research Trust, the Templeton World Charity Foundation, and to T.B. from the Institut Pasteur, the CNRS, The Bettencourt-Schueller and the Cognacq-Jay Foundations, the APHP and the Universite de Paris. SBC was funded by the Autism Research Trust, the Wellcome Trust, the Templeton World Charitable Foundation, and the NIHR Biomedical Research Centre in Cambridge, during the period of this work., List of authors and their affiliations for the EU-AIMS LEAP group : KCL: Dr Antonia San Jose Caceres, Hannah Hayward, Daisy Crawley, Jessica Faulkner, Jessica Sabet, Claire Ellis, Bethany Oakley, Dr. Eva Loth, Prof. Tony Charman, Prof. Declan Murphy, University of Cambridge: Dr. Rosemary Holt , Jack Waldman, Jessica Upadhyay, Nicola Gunby, Dr. Meng-Chuan Lai, Gwilym Renouf, Dr. Amber Ruigrok, Emily Taylor, Dr. Hisham Ziauddeen, Dr. Julia Deakin, Professor Simon Baron-Cohen, UMC Utrecht: Sara Ambrosino di Bruttopilo, Sarai van Dijk, Yvonne Rijks, Tabitha Koops, Miriam Douma, Alyssia Spaan, Iris Selten, Maarten Steffers, Anna Ver Loren van Themaat, Central Institute of Mental Health Mannheim: Dr. Nico Bast, Dr. Sarah Baumeister, Radboudumc: Dr Larry O’Dwyer, Carsten Bours, Annika Rausch Dr. Daniel von Rhein, Ineke Cornelissen, Yvette de Bruin, Maartje Graauwmans, Karolinska Institutet: Elzbieta Kostrzewa, Elodie Cauvet, Dr. Kristiina Tammimies, Rouslan Sitnikow, Institut Pasteur: Dr. Guillaume Dumas, Dr. Yang-Min Kim, and Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité)

Subjects
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], [INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM]
Abstract

Posté sur medRxiv le 24 juillet 2020.; ImportanceSchizophrenia, educational attainment, and intelligence are all genetically correlated with autism. However, autism is a complex condition, with several different core (such as social communication difficulties and repetitive and restricted behaviour) and associated features (such as IQ and adaptive behaviour) contributing to the underlying heterogeneity. It is unknown to what extent polygenic scores (PGS) for these three phenotypes are associated with the core and associated autism features.ObjectiveTo investigate the association of PGS for intelligence, educational attainment and schizophrenia on core autism features, IQ and adaptive behaviour in autistic individuals. To further investigate the effects of stratifying by sex and IQ on these associations.DesignPGS association for the three phenotypes with 12 different autism core and associated features in three cohorts followed by meta-analysis. We additionally conducted sensitivity analyses by stratifying for sex and IQ.Settings :Three cross-sectional, multi-centre cohorts comprising autistic with genotype data, and phenotypic information.ParticipantsAutistic individuals (total N: 2,512 – 3,681) from three different cohorts: Simons Simplex Collection (Nmax = 2,233), Autism Genetic Research Exchange (Nmax = 1,200), and AIMS-2- TRIALS LEAP (Nmax = 262)Main outcome measuresAssociation of PGS for intelligence, educational attainment, and schizophrenia with core autism features, measures of intelligence, and adaptive behaviour in autistic individualsResultsWe identified a similar pattern of correlation among core and associated autism features across all three cohorts. Cluster analyses of these features identified two broad clusters – one consisting of the core features, and another consisting of IQ and adaptive behaviour. PGS for intelligence were only associated with measures of intelligence and adaptive behaviour (e.g. for full-scale IQ, Beta = 0.08, 95%CI = 0.11 – 0.04) for PGS for educational attainment were associated for measures of intelligence, adaptive behaviour, and additionally, non-verbal communication as measured by ADI – a core-autism feature (e.g. for full-scale IQ, Beta = 0.05, 95%CI = 0.08 – 0.02; for ADI non-verbal communication, Beta = 0.05, 95%CI = 0.09 – 0.01). Finally, PGS for schizophrenia were associated with two core autism features: restricted and repetitive behaviour and verbal communication difficulties as measured by the ADI-R (e.g. for ADI restricted and repetitive behaviour: Beta = 0.06, 95%CI = 0.09 – 0.02). Most of these associations were also significant when restricting it to males only or to individuals with IQ > 70. We find limited evidence for heterogeneity between cohorts.Conclusion and relevanceWe identify specific and different patterns of association between PGS for the three phenotypes and core and associated autism features. This provides greater resolution into the shared genetics between autism and the three phenotypes, and suggests one method to investigate heterogeneity in autism and co-occurring conditions.

Published
2021

36. Towards a gene-level map of resilience to genetic variants associated with autism

Author

Rolland, Thomas, Cliquet, Freddy, Anney, Richard, Traut, Nicolas, Mathieu, Alexandre, Huguet, Guillaume, Leblond, Claire, Douard, Elise, Amsellem, Frédérique, Malesys, Simon, Maruani, Anna, Toro, Roberto, Packer, Alan, Chung, Wendy, Jacquemont, Sébastien, Delorme, Richard, Bourgeron, Thomas, Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Centre National de la Recherche Scientifique (CNRS)-Institut Pasteur [Paris]-Université de Paris (UP), Cardiff University, Centre de Recherches Interdisciplinaires (CRI), Université de Paris (UP), Université de Montréal (UdeM), Centre de recherche du CHU Sainte-Justine [Montreal], Université de Montréal (UdeM)-CHU Sainte Justine [Montréal], Service psychiatrique de l'enfant et de l'adolescent [CHU Hôpital Robert Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Simons Foundation, Columbia University Medical Center (CUMC), Columbia University [New York], This work was funded by Institut Pasteur, the Bettencourt-Schueller Foundation, Université de Paris, the Conny-Maeva Charitable Foundation, the Cognacq Jay Foundation, the Eranet-Neuron (ALTRUISM), the GenMed Labex, AIMS-2-TRIALS which received support from the Innovative Medicines Initiative 2 Joint Undertaking under grant agreement No 777394 and the Inception program (Investissement d’Avenir grant ANR-16-CONV-0005). This project has received funding from the European Union’s Horizon 2020 research and innovative program CANDY under grant agreement No 847818., ANR-16-CONV-0005,INCEPTION,Institut Convergences pour l'étude de l'Emergence des Pathologies au Travers des Individus et des populatiONs(2016), Centre National de la Recherche Scientifique (CNRS), Institut Pasteur [Paris], Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPC), and Université Paris Cité (UPC)

Subjects
genetic structures, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], mental disorders, [INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM], behavioral disciplines and activities
Abstract

Posté sur medRxiv le 6 mars 2021.; While over 100 genes are now significantly associated with autism spectrum disorders (ASD), the penetrance of the variants affecting these genes remains poorly understood. Here, we quantified the prevalence of rare loss-of-function (LoF) mutations affecting 156 genes robustly associated with ASD (SPARK genes) using genetic data from more than 10,000 individuals with ASD and 100,000 undiagnosed individuals. We then investigated the clinical, brain imaging and genetic profiles of individuals heterozygous for these rare deleterious variants who were not diagnosed with ASD. These “resilient” individuals, observed in less than 1% of the general population, were equally distributed among males and females, but displayed low polygenic scores for ASD compared to LoF heterozygotes diagnosed with ASD. The interplay between rare and common variants may therefore contribute to the clinical profiles of the individuals carrying LoF in genes associated with ASD.

Published
2021

37. ALS GENES: Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

Author

Cirulli, Elizabeth T., Lasseigne, Brittany N., Petrovski, Slavé, Sapp, Peter C., Dion, Patrick A., Leblond, Claire S., Couthouis, Julien, Lu, Yi-Fan, Wang, Quanli, Krueger, Brian J., Ren, Zhong, Keebler, Jonathan, Han, Yujun, Levy, Shawn E., Boone, Braden E., Wimbish, Jack R., Waite, Lindsay L., Jones, Angela L., Carulli, John P., Day-Williams, Aaron G., Staropoli, John F., Xin, Winnie W., Chesi, Alessandra, Raphael, Alya R., McKenna-Yasek, Diane, Cady, Janet, Vianney de Jong, J. M. B., Kenna, Kevin P., Smith, Bradley N., Topp, Simon, Miller, Jack, Gkazi, Athina, Sequencing Consortium, FALS, Al-Chalabi, Ammar, van den Berg, Leonard H., Veldink, Jan, Silani, Vincenzo, Ticozzi, Nicola, Shaw, Christopher E., Baloh, Robert H., Appel, Stanley, Simpson, Ericka, Lagier-Tourenne, Clotilde, Pulst, Stefan M., Gibson, Summer, Trojanowski, John Q., Elman, Lauren, McCluskey, Leo, Grossman, Murray, Shneider, Neil A., Chung, Wendy K., Ravits, John M., Glass, Jonathan D., Sims, Katherine B., Van Deerlin, Vivianna M., Maniatis, Tom, Hayes, Sebastian D., Ordureau, Alban, Swarup, Sharan, Landers, John, Baas, Frank, Allen, Andrew S., Bedlack, Richard S., Wade Harper, J., Gitler, Aaron D., Rouleau, Guy A., Brown, Robert, Harms, Matthew B., Cooper, Gregory M., Harris, Tim, Myers, Richard M., and Goldstein, David B.

Published
2015

40. Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2

Author

Schmeisser, Michael J., Ey, Elodie, Wegener, Stephanie, Bockmann, Juergen, Stempel, A. Vanessa, Kuebler, Angelika, Janssen, Anna-Lena, Udvardi, Patrick T., Shiban, Ehab, Spilker, Christina, Balschun, Detlef, Skryabin, Boris V., tom Dieck, Susanne, Smalla, Karl-Heinz, Montag, Dirk, Leblond, Claire S., Faure, Philippe, Torquet, Nicolas, Le Sourd, Anne-Marie, Toro, Roberto, Grabrucker, Andreas M., Shoichet, Sarah A., Schmitz, Dietmar, Kreutz, Michael R., Bourgeron, Thomas, Gundelfinger, Eckart D., and Boeckers, Tobias M.

Subjects
Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

Autism spectrum disorders comprise a range of neurodevelopmental disorders characterized by deficits in social interaction and communication, and by repetitive behaviour (1). Mutations in synaptic proteins such as neuroligins (2,3), neurexins (4), GKAPs/SAPAPs (5) and ProSAPs/ Shanks (6-10) were identified in patients with autism spectrum disorder, but the causative mechanisms remain largely unknown. ProSAPs/ Shanks build large homo- and heteromeric protein complexes at excitatory synapses and organize the complex protein machinery of the postsynaptic density in a laminar fashion (11,12). Here we demonstrate that genetic deletion of ProSAP1/Shank2 results in an early, brain-region-specific upregulation of ionotropic glutamate receptors at the synapse and increased levels of ProSAP2/Shank3. Moreover, ProSAP1/[Shank.sup.-/-] mutants exhibit fewer dendritic spines and show reduced basal synaptic transmission, a reduced frequency of miniature excitatory postsynaptic currents and enhanced JV-methyl-D-aspartate receptor-mediated excitatory currents at the physiological level. Mutants are extremely hyperactive and display profound autistic-like behavioural alterations including repetitive grooming as well as abnormalities in vocal and social behaviours. By comparing the data on ProSAP1/[Shank.sup.-/-] mutants with ProSAP2/ Shank3α[β.sup.-/-] mice, we show that different abnormalities in synaptic glutamate receptor expression can cause alterations in social interactions and communication. Accordingly, we propose that appropriate therapies for autism spectrum disorders are to be carefully matched to the underlying synaptopathic phenotype., Many of the recently identified autism spectrum disorders (ASD) candidate genes code for proteins of excitatory synapses (13-15), suggesting that these disorders may arise from molecular imbalances of synaptic connections. [...]

Published
2012
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41. A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

Author

Akimoto, Chizuru, Volk, Alexander E, van Blitterswijk, Marka, Van den Broeck, Marleen, Leblond, Claire S, Lumbroso, Serge, Camu, William, Neitzel, Birgit, Onodera, Osamu, van Rheenen, Wouter, Pinto, Susana, Weber, Markus, Smith, Bradley, Proven, Melanie, Talbot, Kevin, Keagle, Pamela, Chesi, Alessandra, Ratti, Antonia, van der Zee, Julie, Alstermark, Helena, Birve, Anna, Calini, Daniela, Nordin, Angelica, Tradowsky, Daniela C, Just, Walter, Daoud, Hussein, Angerbauer, Sabrina, DeJesus-Hernandez, Mariely, Konno, Takuya, Lloyd-Jani, Anjali, de Carvalho, Mamede, Mouzat, Kevin, Landers, John E, Veldink, Jan H, Silani, Vincenzo, Gitler, Aaron D, Shaw, Christopher E, Rouleau, Guy A, van den Berg, Leonard H, Van Broeckhoven, Christine, Rademakers, Rosa, Andersen, Peter M, and Kubisch, Christian

Published
2014
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42. Sub-diagnostic effects of genetic variants associated with autism

Author

Rolland, Thomas, primary, Cliquet, Freddy, additional, Anney, Richard J.L., additional, Moreau, Clara, additional, Traut, Nicolas, additional, Mathieu, Alexandre, additional, Huguet, Guillaume, additional, Duan, Jinjie, additional, Warrier, Varun, additional, Portalier, Swan, additional, Dry, Louise, additional, Leblond, Claire S., additional, Douard, Elise, additional, Amsellem, Frédérique, additional, Malesys, Simon, additional, Maruani, Anna, additional, Toro, Roberto, additional, Børglum, Anders D., additional, Grove, Jakob, additional, Baron-Cohen, Simon, additional, Packer, Alan, additional, Chung, Wendy K., additional, Jacquemont, Sébastien, additional, Delorme, Richard, additional, and Bourgeron, Thomas, additional

Published
2021
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44. Genetic correlates of phenotypic heterogeneity in autism

Author

Warrier, Varun, Zhang, Xinhe, Reed, Patrick, Havdahl, Alexandra, Moore, Tyler M., Cliquet, Freddy, Leblond, Claire S., Rolland, Thomas, Rosengren, Anders, Caceres, Antonia San Jose, Hayward, Hannah, Crawley, Daisy, Faulkner, Jessica, Sabet, Jessica, Ellis, Claire, Oakley, Bethany, Loth, Eva, Charman, Tony, Murphy, Declan, Holt, Rosemary, Waldman, Jack, Upadhyay, Jessica, Gunby, Nicola, Lai, Meng-Chuan, Renouf, Gwilym, Ruigrok, Amber, Taylor, Emily, Ziauddeen, Hisham, Deakin, Julia, di Bruttopilo, Sara Ambrosino, van Dijk, Sarai, Rijks, Yvonne, Koops, Tabitha, Douma, Miriam, Spaan, Alyssia, Selten, Iris, Steffers, Maarten, van Themaat, Anna Ver Loren, Bast, Nico, Baumeister, Sarah, O’Dwyer, Larry, Bours, Carsten, Rausch, Annika, von Rhein, Daniel, Cornelissen, Ineke, de Bruin, Yvette, Graauwmans, Maartje, Kostrzewa, Elzbieta, Cauvet, Elodie, Tammimies, Kristiina, Sitnikow, Rouslan, Dumas, Guillaume, Kim, Yang-Min, Bourgeron, Thomas, Hougaard, David M., Bybjerg-Grauholm, Jonas, Werge, Thomas, Mortensen, Preben Bo, Mors, Ole, Nordentoft, Merete, Adhya, Dwaipayan, Alamanza, Armandina, Allison, Carrie, Garvey, Isabelle, Parsons, Tracey, Smith, Paula, Tsompanidis, Alex, Burton, Graham J., Heazell, Alexander E. P., Gabis, Lidia V., Biron-Shental, Tal, Lancaster, Madeline A., Srivastava, Deepak P., Mill, Jonathan, Rowitch, David H., Hurles, Matthew E., Geschwind, Daniel H., Børglum, Anders D., Robinson, Elise B., Grove, Jakob, Martin, Hilary C., Baron-Cohen, Simon, University of Cambridge [UK] (CAM), Lovisenberg Diakonale Sykehus - Lovisenberg Diaconal Hospital [Oslo], Norwegian Institute of Public Health [Oslo] (NIPH), University of Oslo (UiO), University of Pennsylvania [Philadelphia], Children’s Hospital of Philadelphia (CHOP ), Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), The Lundbeck Foundation Initiative for Integrative Psychiatric Research (iPSYCH), Copenhagen University Hospital, The Wellcome Trust Sanger Institute [Cambridge], University of California [Los Angeles] (UCLA), University of California, Aarhus University [Aarhus], Broad Institute [Cambridge], Harvard University [Cambridge]-Massachusetts Institute of Technology (MIT), Massachusetts General Hospital [Boston], Harvard T.H. Chan School of Public Health, V.W. is funded by St. Catharine’s College, Cambridge. This study was funded by grants to SBC from the Medical Research Council, the Wellcome Trust, the Autism Research Trust, the Templeton World Charity Foundation, and to T.B. from the Institut Pasteur, the CNRS, The Bettencourt-Schueller and the Cognacq-Jay Foundations, the APHP and the Université de Paris. SBC was funded by the Autism Research Trust, the Wellcome Trust, the Templeton World Charitable Foundation, and the NIHR Biomedical Research Centre in Cambridge, during the period of this work. The Medical Research Council (MRC) funded the Cambridge Autism Research Database (CARD) that made this study possible. SBC also received funding from the Innovative Medicines Initiative 2 Joint Undertaking (JU) under grant agreement No 777394. The JU receives support from the European Union’s Horizon 2020 research and innovation programme and EFPIA and AUTISM SPEAKS, Autistica, SFARI. His research was also supported by the National Institute of Health Research (NIHR) Applied Research Collaboration East of England (ARC EoE) programme. T.M.M. is supported by U.S. National Institutes of Mental Health (NIMH) grant MH117014. The views expressed are those of the authors, and not necessarily those of the NIHR, NHS or Department of Health and Social Care. We acknowledge with gratitude the generous support of Drs Dennis and Mireille Gillings in strengthening the collaboration between S.B.-C. and T.B., and between Cambridge University and the Institut Pasteur. The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR or the Department of Health. The AIMS-2-TRIALS LEAP receives support from the European Union’s Horizon 2020 research and innovation programme and EFPIA and AUTISM SPEAKS, Autistica, SFARI. A full list of the authors and affiliations in the AIMS-2-TRIALS LEAP group is provided in the Supplementary Information. The iPSYCH team was supported by grants from the Lundbeck Foundation (R102-A9118, R155-2014-1724 and R248-2017-2003), NIMH (1U01MH109514-01 to ADB) and the universities and university hospitals of Aarhus and Copenhagen. The Danish National Biobank resource was supported by the Novo Nordisk Foundation. High-performance computer capacity for handling and statistical analysis of iPSYCH data on the GenomeDK HPC facility was provided by the Center for Genomics and Personalized Medicine and the Centre for Integrative Sequencing, iSEQ, Aarhus University, Denmark (grant to ADB). We thank Jonathan Sebat for sharing the de novo variant calls in the SPARK and SSC datasets., Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Warrier, Varun [0000-0003-4532-8571], Havdahl, Alexandra [0000-0002-9268-0423], Moore, Tyler M [0000-0002-1384-0151], Rosengren, Anders [0000-0002-6682-1288], Hurles, Matthew E [0000-0002-2333-7015], Geschwind, Daniel H [0000-0003-2896-3450], Børglum, Anders D [0000-0001-8627-7219], Grove, Jakob [0000-0003-2284-5744], Martin, Hilary C [0000-0002-4454-9084], Bourgeron, Thomas [0000-0001-8164-9220], Baron-Cohen, Simon [0000-0001-9217-2544], Apollo - University of Cambridge Repository, University of Pennsylvania, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), University of California (UC), Harvard University-Massachusetts Institute of Technology (MIT), and S.B.-C. received funding from the Wellcome Trust (214322\Z\18\Z). For the purpose of open access, we have applied a CC BY public copyright licence to any author accepted manuscript version arising from this submission. S.B.-C. also received funding from the Autism Centre of Excellence, the SFARI, the Templeton World Charitable Fund, the MRC and the National Institute for Health Research Cambridge Biomedical Research Centre. The research was supported by the National Institute for Health Research Applied Research Collaboration East of England. Any views expressed are those of the author(s) and not necessarily those of the funder. Some of the results leading to this publication have received funding from the Innovative Medicines Initiative 2 Joint Undertaking under grant agreement no. 777394 for the project AIMS-2-TRIALS. This joint undertaking receives support from the European Union’s Horizon 2020 research and innovation program and the EFPIA and Autism Speaks, Autistica and the SFARI. V.W. is funded by St. Catharine’s College, Cambridge. T.B. has received funding from the Institut Pasteur, the CNRS, the Bettencourt–Schueller and the Cognacq–Jay Foundations, the APHP and the Université de Paris Cité. We acknowledge with gratitude the generous support of D. and M. Gillings in strengthening the collaboration between S.B.-C. and T.B. and between Cambridge University and the Institut Pasteur. The iPSYCH team was supported by grants from the Lundbeck Foundation (R102-A9118, R155-2014-1724 and R248-2017-2003), the NIMH (1U01MH109514-01 to A.D.B.) and the universities and university hospitals of Aarhus and Copenhagen. The Danish National Biobank resource was supported by the Novo Nordisk Foundation. High-performance computer capacity for handling and statistical analysis of iPSYCH data on the GenomeDK HPC facility was provided by the Center for Genomics and Personalized Medicine and the Centre for Integrative Sequencing, iSEQ, Aarhus University, Denmark (grant to A.D.B.). We thank J. Sebat for sharing the de novo variant calls in the SPARK and SSC datasets. We are grateful to all families at the participating SSC sites as well as the principal investigators (A. Beaudet, R. Bernier, J. Constantino, E. Cook, E. Fombonne, D. Geschwind, R. Goin-Kochel, E. Hanson, D. Grice, A. Klin, D. Ledbetter, C. Lord, C. Martin, D. Martin, R. Maxim, J. Miles, O. Ousley, K. Pelphrey, B. Peterson, J. Piggot, C. Saulnier, M. State, W. Stone, J. Sutcliffe, C. Walsh, Z. Warren and E. Wijsman). We are grateful to all families in the SPARK study, the SPARK clinical sites and SPARK staff.

Subjects
Male, Autism Spectrum Disorder, CHILDREN, behavioral disciplines and activities, Developmental psychology, Correlation, 03 medical and health sciences, Nonverbal communication, AGE, Cognition, 0302 clinical medicine, Intellectual Disability, mental disorders, Genetics, medicine, Humans, Limited evidence, GENOME-WIDE ASSOCIATION, Autistic Disorder, Association (psychology), COMMON, SPECTRUM DISORDER, 030304 developmental biology, RISK, ARCHITECTURE, 0303 health sciences, IDENTIFICATION, [SCCO.NEUR]Cognitive science/Neuroscience, medicine.disease, Educational attainment, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, DE-NOVO MUTATIONS, Adaptive behaviour, Schizophrenia, Autism, Female, SIMONS SIMPLEX COLLECTION, Psychology, 030217 neurology & neurosurgery
Abstract

Funder: Wellcome Trust (Wellcome); doi: https://doi.org/10.13039/100004440, Funder: Templeton World Charity Foundation (Templeton World Charity Foundation, Inc.); doi: https://doi.org/10.13039/501100011730, The substantial phenotypic heterogeneity in autism limits our understanding of its genetic etiology. To address this gap, here we investigated genetic differences between autistic individuals (nmax = 12,893) based on core and associated features of autism, co-occurring developmental disabilities and sex. We conducted a comprehensive factor analysis of core autism features in autistic individuals and identified six factors. Common genetic variants were associated with the core factors, but de novo variants were not. We found that higher autism polygenic scores (PGS) were associated with lower likelihood of co-occurring developmental disabilities in autistic individuals. Furthermore, in autistic individuals without co-occurring intellectual disability (ID), autism PGS are overinherited by autistic females compared to males. Finally, we observed higher SNP heritability for autistic males and for autistic individuals without ID. Deeper phenotypic characterization will be critical in determining how the complex underlying genetics shape cognition, behavior and co-occurring conditions in autism.

Published
2020

46. Genetic variations of the melatonin pathway in patients with attention-deficit and hyperactivity disorders

Author

Chaste, Pauline, Clement, Nathalie, Botros, Hany Goubran, Guillaume, Jean-Luc, Konyukh, Marina, Pagan, Cécile, Scheid, Isabelle, Nygren, Gudrun, Anckarsäter, Henrik, Rastam, Maria, Ståhlberg, Ola, Gillberg, Carina I., Melke, Jonas, Delorme, Richard, Leblond, Claire, Toro, Roberto, Huguet, Guillaume, Fauchereau, Fabien, Durand, Christelle, Boudarene, Lydia, Serrano, Emilie, Lemière, Nathalie, Launay, Jean Marie, Leboyer, Marion, Jockers, Ralf, Gillberg, Christopher, and Bourgeron, Thomas

Published
2011
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47. 5 DIFFERENCES IN THE GENETIC BACKGROUND CONTRIBUTE TO RISK AND RESILIENCE TO AUTISM

Author

Rolland, Thomas, primary, Cliquet, Freddy, additional, Anney, Richard, additional, Mathieu, Alexandre, additional, Huguet, Guillaume, additional, Leblond, Claire, additional, Douard, Elise, additional, Fartek, Sandrine, additional, Maruani, Anna, additional, Amsellem, Frederique, additional, Packer, Alan, additional, Jacquemont, Sebastien, additional, Delorme, Richard, additional, and Bourgeron, Thomas, additional

Published
2019
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48. The Butterfly Effect in Alice Munro’s 'Day of the Butterfly'. Chaos, Empathy and the End of Certainty

Author

Majola-Leblond, Claire

Subjects
Munro (Alice), homeostasis, reader response, butterfly effect, chaos theory, sensitive dependency on initial conditions, empathy, Day of the Butterfly, mirror neurons
Abstract

This paper aims at including in the stylistician’s tool-box possibly less familiar tools, borrowed from the scientific domains of chaos theory and neuroscience to develop a comprehensive analysis of literary texts. A close reading of Alice Munro’s “Day of the Butterfly” reveals the short-story to be a chaotic system, a dynamical, non linear system sensitive to initial conditions – to what is commonly known as the “butterfly effect”. Reading such texts involves tracing precise trajectories that fold and stretch along underlying structures called attractors in chaos theory. Literary discourse analysis leads to analyzing attractors in close connection with empathy, a notion whose infinite complexity is now being further revealed by the recent discoveries around mirror neurons and the role of mirror mechanisms in the way we relate to the “real” world and art. Although following the itineraries of complexity tends to produce more questions than answers, and leave the reader in a challenging state of uncertainty, it meaningfully echoes our experience of Alice Munro’s work.

Published
2019

49. 'Motley’s the only wear'* : le stylisticien en habit d’Arlequin. La stylistique au risque de la complexité : 'The Piano Teacher’s Pupil'** de William Trevor

Author

Majola-Leblond, Claire

Subjects
stylistique, Trevor (William), chaos theory, théorie du chaos, short story, complexité, nouvelles, complexity, neurones-miroirs, stylistics, mirror neurons
Abstract

A l’occasion du quarantième anniversaire de la SSA, ce travail se propose d’ajouter quelques nouveaux instruments d’exploration à la boîte à outils développée par Leech et Short (Style in Fiction, 1981) et de voir comment le paradigme de complexité peut permettre à la stylistique de se développer dans de nouvelles directions, prenant en compte des domaines aussi divers que la théorie du chaos et les découvertes en neurosciences. Cet article se veut également un hommage au nouvelliste William Trevor, récemment disparu ; une lecture de l’une de ses dernières nouvelles, « The Piano Teacher’s Pupil » sera proposée. This paper aims at adding a few tools to Leech and Short’s stylistic tool-box (Style in Fiction, 1981) and suggesting new directions for the development of stylistics, with a special interest for the way complexity, chaos theory and neuroscience might articulate with more traditional tools. Special attention will be devoted to one of William Trevor’s last stories, “The Piano teacher’s pupil”.

Published
2019

50. Genetic and Functional ascertainment of the Melatonin Pathway in Patients with Attention Deficit and Hyperactivity Disorders

Author

Chaste, Pauline, Clement, Nathalie, Botros, Hany, Guillaume, Jean-Luc, Konyukh, Marina, Pagan, Cécile, Scheid, Isabelle, Nygren, Gudrun, Anckarsäter, Henrik, Råstam, Maria, Ståhlberg, Ola, Gillberg, I. Carina, Melke, Jonas, Delorme, Richard, Leblond, Claire, Toro, Roberto, Huguet, Guillaume, Fauchereau, Fabien, Durand, Christelle, Boudarene, Lydia, Serrano, Emilie, Lemière, Nathalie, Launay, Jean Marie, Leboyer, Marion, Jockers, Ralf, Gillberg, Christopher, Bourgeron, Thomas, Génétique Humaine et Fonctions Cognitives, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Institut Cochin (UMR_S567 / UMR 8104), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Göteborgs Universitet (GU), Lund University [Lund], AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut fédératif de Recherche Lariboisière (IFR_139), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Fondation FondaMental [Créteil], This work was supported by the Institut Pasteur, Université Paris Diderot, INSERM, CNRS, FP6 ENI‐NET, Fondation FondaMental and Fondation pour la Recherche Médicale (‘Equipe FRM’, RJ)., Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5), and Toro, Roberto

Subjects
[SDV] Life Sciences [q-bio], ASMT, [SDV]Life Sciences [q-bio], AA-NAT, ADHD, receptors, melatonin, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], genes
Abstract

Sleep wake cycles are frequently disturbed in patients with Attention Deficit and Hyperactivity Disorders. We hypothesized that the origin of the sleep problems may be the consequence of an abnormal circadian clock setting regulated by the melatonin pathway. Here, we sequenced all the genes of the melatonin pathway AA-NAT, ASMT, MTNR1A, MTNR1B and GPR50 in 328 individuals from Sweden including 108 patients with ADHD and 220 from the general population. Non-synonymous mutations were identified in all genes at a similar frequency in patients with ADHD and in controls. Among the functional variations, a splice site mutation (IVS5+2T>C) in ASMT and one stop mutation (Y170X) in MTNR1A were only detected in patients with ADHD. Biochemical analyses indicated that these mutations abolish the activity of ASMT and MTNR1A. We also identified clusters of SNPs within MTNR1B showing significant difference in the allelic frequency between ADHD patients and control (maximum signal at rs10830961 P=0.0002). Taken together, these genetic and functional results shed light on one new compelling candidate pathway for susceptibility to circadian rhythms alterations that could help clinicians for providing better treatments of patients with ADHD and sleep problems.

Published
2018

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