Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS

Autor: Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp S, Kenna KP, Scotter EL, Kost J, Keagle P, Miller JW, Calini D, Vance C, Danielson EW, Troakes C, Tiloca C, Al Sarraj S, Lewis EA, King A, Colombrita C, Pensato V, Castellotti B, de Belleroche J, Baas F, ten Asbroek AL, Sapp PC, McKenna Yasek D, McLaughlin RL, Polak M, Asress S, Esteban Pérez J, Muñoz Blanco JL, Simpson M, SLAGEN Consortium, van Rheenen W, Diekstra FP, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Morrison KE, Williams KL, Nicholson GA, Blair IP, Dion PA, Leblond CS, Rouleau GA, Hardiman O, Veldink JH, van den Berg LH, Al Chalabi A, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, García Redondo A, Wu Z, Glass JD, Gellera C, Ratti A, Brown RH Jr, Silani V, Shaw CE, Landers JE, COMI , GIANCARLO

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_____10495::6daeffcca4d8b64c305b41c71ab61433

Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

Autor: Leblond, CS, Heinrich, J, Delorme, R, Proepper, C, Betancur, C, Huguet, G, Konyukh, M, Chaste, P, Oliveira, G

Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders with a complex inheritance pattern. While many rare variants in synaptic proteins have been identified in patients with ASD, little is known about their effects

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1504::f3612043f6b651c4e15841d6bd4b36f2
https://hdl.handle.net/10400.4/1425

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

Autor: Bloomfield M; Department of Psychology, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK., Lautarescu A; Department of Psychology, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK alexandra.lautarescu@kcl.ac.uk.; Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology, & Neuroscience, King's College London, London, UK., Heraty S; Department of Psychological Sciences, Birkbeck University of London, London, UK., Douglas S; AIMS-2-TRIALS A-Reps, Cambridge University, Cambridge, UK., Violland P; AIMS-2-TRIALS A-Reps, Cambridge University, Cambridge, UK., Plas R; AIMS-2-TRIALS A-Reps, Cambridge University, Cambridge, UK., Ghosh A; AIMS-2-TRIALS A-Reps, Cambridge University, Cambridge, UK., Van den Bosch K; AIMS-2-TRIALS A-Reps, Cambridge University, Cambridge, UK., Eaton E; Autism Research Centre, Cambridge University, Cambridge, UK., Absoud M; Department of Children's Neurosciences, Evelina London Children's Hospital, Guy's and St Thomas' Hospitals NHS Trust, London, UK.; Department of Women and Children's Health, Faculty of Life Sciences and Medicine, School of Life Course Sciences, King's College London, London, UK., Battini R; Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa, Italy.; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy., Blázquez Hinojosa A; Department of Child and Adolescent Psychiatry and Psychology, Institute of Neurosciences, Hospital Clinic Universitari Barcelona, Barcelona, Spain., Bolshakova N; Department of Psychiatry, School of Medicine, Trinity College Dublin, Dublin, Ireland., Bölte S; Center of Neurodevelopmental Disorders (KIND), Department of Women's and Children's Health, Centre for Psychiatry Research, Karolinska Institutet, Stockholm, Sweden.; Child and Adolescent Psychiatry, Stockholm Health Care Services, Stockholm, Sweden.; Curtin Autism Research Group, Curtin School of Allied Health, Curtin University, Perth, Western Australia, Australia., Bonanni P; Epilepsy Unit, Scientific Institute IRCCS E. Medea Conegliano, Treviso, Italy., Borg J; Centre for Psychiatry Research and Centre for Cognitive and Computational Neuropsychiatry (CCNP), Department of Clinical Neuroscience, Karolinska Institutet & Stockholm Health Care Services, Stockholm, Sweden.; Department of Neuropsychiatry, Region Västra Götaland, Sahlgrenska University Hospital, Gothenburg, Sweden.; Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, Sahlgrenska Academy at The University of Gothenburg, Gothenburg, Sweden., Calderoni S; Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa, Italy.; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy., Calvo Escalona R; Department of Child and Adolescent Psychiatry and Psychology, Institute of Neurosciences, Hospital Clinic Universitari Barcelona, Barcelona, Spain.; Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Madrid, Spain.; Department of Medicine, Institute of Neuroscience, University of Barcelona, Barcelona, Spain., Castelo-Branco M; Institute of Physiology, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.; Coimbra Institute for Biomedical Imaging and Translational Research (CIBIT), Institute of Nuclear Sciences Applied to Health (ICNAS), University of Coimbra, Coimbra, Portugal., Castro-Fornieles J; Department of Child and Adolescent Psychiatry and Psychology, Institute of Neurosciences, Hospital Clinic Universitari Barcelona, Barcelona, Spain.; Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Madrid, Spain.; Department of Medicine, Institute of Neuroscience, University of Barcelona, Barcelona, Spain., Caro P; Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany., Cliquet F; Génétique Humaine et Fonctions Cognitives, UMR3571 CNRS, Institut Pasteur, Paris, France., Danieli A; Epilepsy Unit, Scientific Institute IRCCS E. Medea Conegliano, Treviso, Italy., Delorme R; Child and Adolescent Psychiatry Department, Robert Debre Hospital, APHP, Paris, France., Elia M; Unit of Neurology and Clinical Neurophysiopathology, Oasi Research Institute-IRCCS, Troina, Italy., Hempel M; Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany., Leblond CS; Génétique Humaine et Fonctions Cognitives, UMR3571 CNRS, Institut Pasteur, Paris, France., Madeira N; Coimbra Institute for Biomedical Imaging and Translational Research (CIBIT), Institute of Nuclear Sciences Applied to Health (ICNAS), University of Coimbra, Coimbra, Portugal.; Psychiatry Department, Centro Hospitalar e Universitário de Coimbra EPE, Coimbra, Portugal.; Institute of Psychological Medicine, Faculty of Medicine, University of Coimbra, Coimbra, Portugal., McAlonan G; Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology, & Neuroscience, King's College London, London, UK.; Behavioural and Developmental Clinical Academic Group, South London and Maudsley NHS Foundation Trust, London, UK., Milone R; Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa, Italy., Molloy CJ; Department of Psychiatry, School of Medicine, Trinity College Dublin, Dublin, Ireland., Mouga S; Coimbra Institute for Biomedical Imaging and Translational Research (CIBIT), Institute of Nuclear Sciences Applied to Health (ICNAS), University of Coimbra, Coimbra, Portugal., Montiel V; Pediatric Neurology Department, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Deu, Barcelona, Spain., Pina Rodrigues A; Coimbra Institute for Biomedical Imaging and Translational Research (CIBIT), Institute of Nuclear Sciences Applied to Health (ICNAS), University of Coimbra, Coimbra, Portugal., Schaaf CP; Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany., Serrano M; Pediatric Neurology Department, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Deu, Barcelona, Spain., Tammimies K; Center of Neurodevelopmental Disorders (KIND), Department of Women's and Children's Health, Centre for Psychiatry Research, Karolinska Institutet, Stockholm, Sweden.; Astrid Lindgren Children's Hospital, Karolinska University Hospital, Stockholm, Sweden., Tye C; Department of Psychology, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK., Vigevano F; Neurological Sciences and Rehabilitation Medicine Scientific Area, Bambino Gesù Children's Hospital, Rome, Italy.; Paediatric Neurorehabilitation Department, IRCCS San Raffaele, Rome, UK., Oliveira G; Coimbra Institute for Biomedical Imaging and Translational Research (CIBIT), Institute of Nuclear Sciences Applied to Health (ICNAS), University of Coimbra, Coimbra, Portugal.; University Clinic of Pediatrics, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.; Child Developmental Center and Research and Clinical Training Center, Pediatric Hospital, Centro Hospitalar e Universitário de Coimbra (CHUC), Coimbra, Portugal., Mazzone B; Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa, Italy., O'Neill C; Cure Sanfilippo Foundation, Columbia, South Carolina, USA., Pender J; SYNGAP Research Fund, San Diego, California, USA., Romero V; Dup15q e.V, Hessen, Germany., Tillmann J; Roche Pharma Research and Early Development, Roche Innovation Center, Basel, Switzerland., Oakley B; Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology, & Neuroscience, King's College London, London, UK., Murphy DGM; Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology, & Neuroscience, King's College London, London, UK.; South London and Maudsley NHS Foundation Trust, London, UK.; Institute for Translational Neurodevelopment, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK., Gallagher L; Department of Psychiatry, School of Medicine, Trinity College Dublin, Dublin, Ireland.; SickKids Research Institute, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Ontario, Canada.; Child and Youth Division Centre for Addiction and Mental Health, CAMH, Toronto, Ontario, Canada.; Department of Psychiatry, Temerty Faculty of Medicine, Univerisity of Toronto, Toronto, Ontario, Canada., Bourgeron T; Génétique Humaine et Fonctions Cognitives, UMR3571 CNRS, Institut Pasteur, Paris, France., Chatham C; F Hoffmann-La Roche Ltd, Basel, Switzerland., Charman T; Department of Psychology, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.

Publikováno v: BMJ open [BMJ Open] 2024 Jun 04; Vol. 14 (6), pp. e080746. Date of Electronic Publication: 2024 Jun 04.

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

Autor: Pretzsch CM; Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK. charlotte.pretzsch@kcl.ac.uk., Floris DL; Methods of Plasticity Research, Department of Psychology, University of Zurich, Zurich, Switzerland.; Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands., Schäfer T; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital Frankfurt, Goethe University Frankfurt, Frankfurt am Main, Germany., Bletsch A; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital Frankfurt, Goethe University Frankfurt, Frankfurt am Main, Germany., Gurr C; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital Frankfurt, Goethe University Frankfurt, Frankfurt am Main, Germany., Lombardo MV; Laboratory for Autism and Neurodevelopmental Disorders, Center for Neuroscience and Cognitive Systems @UniTn, Istituto Italiano di Tecnologia, Rovereto, Italy., Chatham CH; F. Hoffmann La Roche, Innovation Center Basel, Basel, Switzerland., Tillmann J; F. Hoffmann La Roche, Innovation Center Basel, Basel, Switzerland., Charman T; Clinical Child Psychology, Department of Psychology, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK., Arenella M; Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., Jones E; Centre for Brain & Cognitive Development, University of London, London, UK., Ambrosino S; University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands., Bourgeron T; Human Genetics and Cognitive Functions, Institut Pasteur, UMR3571 CNRS, IUF, Université Paris Cité, Paris, France., Dumas G; CHU Sainte-Justine Research Center, Department of Psychiatry, University of Montreal, Montreal, QC, Canada., Cliquet F; Human Genetics and Cognitive Functions, Institut Pasteur, UMR3571 CNRS, IUF, Université Paris Cité, Paris, France., Leblond CS; Human Genetics and Cognitive Functions, Institut Pasteur, UMR3571 CNRS, IUF, Université Paris Cité, Paris, France., Loth E; Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK., Oakley B; Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK., Buitelaar JK; Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands., Baron-Cohen S; Autism Research Centre, Department of Psychiatry, University of Cambridge, Cambridge, UK., Beckmann CF; Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands., Persico AM; Child and Adolescent Neuropsychiatry, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy., Banaschewski T; Department of Child and Adolescent Psychiatry, Central Institute of Mental Health, Medical Faculty Mannheim, University of Heidelberg, Mannheim, Germany., Durston S; University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands., Freitag CM; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital Frankfurt, Goethe University Frankfurt, Frankfurt am Main, Germany., Murphy DGM; Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK., Ecker C; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital Frankfurt, Goethe University Frankfurt, Frankfurt am Main, Germany.

Publikováno v: Molecular psychiatry [Mol Psychiatry] 2023 May; Vol. 28 (5), pp. 2158-2169. Date of Electronic Publication: 2023 Mar 29.

Genetic correlates of phenotypic heterogeneity in autism.

Autor: Warrier V; Autism Research Centre, Department of Psychiatry, University of Cambridge, Cambridge, UK. vw260@medschl.cam.ac.uk., Zhang X; Autism Research Centre, Department of Psychiatry, University of Cambridge, Cambridge, UK., Reed P; Autism Research Centre, Department of Psychiatry, University of Cambridge, Cambridge, UK., Havdahl A; Nic Waals Institute, Lovisenberg Diaconal Hospital, Oslo, Norway.; Department of Mental Disorders, Norwegian Institute of Public Health, Oslo, Norway.; PROMENTA Research Center, Department of Psychology, University of Oslo, Oslo, Norway., Moore TM; Department of Psychiatry, University of Pennsylvania, Philadelphia, PA, USA.; Lifespan Brain Institute of the Children's Hospital of Philadelphia and University of Pennsylvania, Philadelphia, PA, USA., Cliquet F; Human Genetics and Cognitive Functions, Institut Pasteur, UMR3571 CNRS, Université de Paris Cité, Paris, France., Leblond CS; Human Genetics and Cognitive Functions, Institut Pasteur, UMR3571 CNRS, Université de Paris Cité, Paris, France., Rolland T; Human Genetics and Cognitive Functions, Institut Pasteur, UMR3571 CNRS, Université de Paris Cité, Paris, France., Rosengren A; The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.; Institute of Biological Psychiatry, MHC Sct Hans, Copenhagen University Hospital, Copenhagen, Denmark., Rowitch DH; Department of Paediatrics, Cambridge University Clinical School, Cambridge, UK., Hurles ME; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Geschwind DH; Program in Neurobehavioral Genetics, Semel Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.; Department of Neurology, Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.; Department of Psychiatry, Semel Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA., Børglum AD; The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.; Center for Genomics and Personalized Medicine (CGPM), Aarhus University, Aarhus, Denmark.; Department of Biomedicine (Human Genetics) and iSEQ Center, Aarhus University, Aarhus, Denmark., Robinson EB; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA., Grove J; The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.; Center for Genomics and Personalized Medicine (CGPM), Aarhus University, Aarhus, Denmark.; Department of Biomedicine (Human Genetics) and iSEQ Center, Aarhus University, Aarhus, Denmark.; Bioinformatics Research Centre, Aarhus University, Aarhus, Denmark., Martin HC; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Bourgeron T; Human Genetics and Cognitive Functions, Institut Pasteur, UMR3571 CNRS, Université de Paris Cité, Paris, France., Baron-Cohen S; Autism Research Centre, Department of Psychiatry, University of Cambridge, Cambridge, UK. sb205@cam.ac.uk.

Publikováno v: Nature genetics [Nat Genet] 2022 Sep; Vol. 54 (9), pp. 1293-1304. Date of Electronic Publication: 2022 Jun 02.