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CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.

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Title: CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
Authors: Pavinato L; Department of Medical Sciences, University of Turin, 10126 Turin, Italy.; Institute of Human Genetics, Center for Molecular Medicine Cologne, Center for Rare Diseases Cologne, University Hospital Cologne, University of Cologne, 50931 Cologne, Germany., Delle Vedove A; Institute of Human Genetics, Center for Molecular Medicine Cologne, Center for Rare Diseases Cologne, University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.; Institute for Genetics, University of Cologne, 50674 Cologne, Germany., Carli D; Department of Public Health and Pediatrics, University of Turin, 10126 Turin, Italy.; Pediatric Onco-Hematology, Stem Cell Transplantation and Cell Therapy Division, Regina Margherita Children's Hospital, Città Della Salute e Della Scienza di Torino, 10126 Turin, Italy., Ferrero M; Department of Medical Sciences, University of Turin, 10126 Turin, Italy.; Experimental Zooprophylactic Institute of Piedmont, Liguria e Valle d'Aosta, 10154 Turin, Italy., Carestiato S; Department of Medical Sciences, University of Turin, 10126 Turin, Italy., Howe JL; The Centre for Applied Genomics, Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Agolini E; Laboratory of Medical Genetics, IRCCS, Ospedale Pediatrico Bambino Gesù, Rome, Italy., Coviello DA; Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., van de Laar I; Clinical Genetics, Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, 3015 CN, Rotterdam, The Netherlands., Au PYB; Department of Medical Genetics, Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB T2N 1N4, Canada., Di Gregorio E; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, 10126 Turin, Italy., Fabbiani A; Medical Genetics Unit, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.; Medical Genetics, University of Siena, 53100 Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy., Croci S; Medical Genetics, University of Siena, 53100 Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy., Mencarelli MA; Medical Genetics Unit, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy., Bruno LP; Medical Genetics, University of Siena, 53100 Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy., Renieri A; Medical Genetics Unit, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.; Medical Genetics, University of Siena, 53100 Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy., Veltra D; Laboratory of Medical Genetics, School of Medicine, National & Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, 11527 Athens, Greece., Sofocleous C; Laboratory of Medical Genetics, School of Medicine, National & Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, 11527 Athens, Greece., Faivre L; Centre de référence Anomalies du Développement et Syndromes Malformatifs, Fédération Hospitalo-Universitaire TRANSLAD, CHU Dijon, 21079 Dijon, France.; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, 21078 Dijon, France., Mazel B; Centre de référence Anomalies du Développement et Syndromes Malformatifs, Fédération Hospitalo-Universitaire TRANSLAD, CHU Dijon, 21079 Dijon, France., Safraou H; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, 21078 Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France., Denommé-Pichon AS; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, 21078 Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France., van Slegtenhorst MA; Clinical Genetics, Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, 3015 CN, Rotterdam, The Netherlands., Giesbertz N; Department of Genetics, University Medical Centre Utrecht, 3584 CX, Utrecht, The Netherlands., van Jaarsveld RH; Department of Genetics, University Medical Centre Utrecht, 3584 CX, Utrecht, The Netherlands., Childers A; Greenwood Genetic Center, Greenville, SC 29646, USA., Rogers RC; Greenwood Genetic Center, Greenville, SC 29646, USA., Novelli A; Laboratory of Medical Genetics, IRCCS, Ospedale Pediatrico Bambino Gesù, Rome, Italy., De Rubeis S; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Buxbaum JD; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Scherer SW; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada.; McLaughlin Centre, University of Toronto, Toronto, ON M5S 1A1, Canada., Ferrero GB; Department of Clinical and Biological Sciences, University of Turin, 10149 Orbassano, TO, Italy., Wirth B; Institute of Human Genetics, Center for Molecular Medicine Cologne, Center for Rare Diseases Cologne, University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.; Institute for Genetics, University of Cologne, 50674 Cologne, Germany., Brusco A; Department of Medical Sciences, University of Turin, 10126 Turin, Italy.; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, 10126 Turin, Italy.
Source: Brain : a journal of neurology [Brain] 2023 Feb 13; Vol. 146 (2), pp. 534-548.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
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  Data: <searchLink fieldCode="AU" term="%22Pavinato+L%22">Pavinato L</searchLink>; Department of Medical Sciences, University of Turin, 10126 Turin, Italy.; Institute of Human Genetics, Center for Molecular Medicine Cologne, Center for Rare Diseases Cologne, University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22Delle+Vedove+A%22">Delle Vedove A</searchLink>; Institute of Human Genetics, Center for Molecular Medicine Cologne, Center for Rare Diseases Cologne, University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.; Institute for Genetics, University of Cologne, 50674 Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22Carli+D%22">Carli D</searchLink>; Department of Public Health and Pediatrics, University of Turin, 10126 Turin, Italy.; Pediatric Onco-Hematology, Stem Cell Transplantation and Cell Therapy Division, Regina Margherita Children's Hospital, Città Della Salute e Della Scienza di Torino, 10126 Turin, Italy.<br /><searchLink fieldCode="AU" term="%22Ferrero+M%22">Ferrero M</searchLink>; Department of Medical Sciences, University of Turin, 10126 Turin, Italy.; Experimental Zooprophylactic Institute of Piedmont, Liguria e Valle d'Aosta, 10154 Turin, Italy.<br /><searchLink fieldCode="AU" term="%22Carestiato+S%22">Carestiato S</searchLink>; Department of Medical Sciences, University of Turin, 10126 Turin, Italy.<br /><searchLink fieldCode="AU" term="%22Howe+JL%22">Howe JL</searchLink>; The Centre for Applied Genomics, Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.<br /><searchLink fieldCode="AU" term="%22Agolini+E%22">Agolini E</searchLink>; Laboratory of Medical Genetics, IRCCS, Ospedale Pediatrico Bambino Gesù, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Coviello+DA%22">Coviello DA</searchLink>; Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22van+de+Laar+I%22">van de Laar I</searchLink>; Clinical Genetics, Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, 3015 CN, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Au+PYB%22">Au PYB</searchLink>; Department of Medical Genetics, Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB T2N 1N4, Canada.<br /><searchLink fieldCode="AU" term="%22Di+Gregorio+E%22">Di Gregorio E</searchLink>; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, 10126 Turin, Italy.<br /><searchLink fieldCode="AU" term="%22Fabbiani+A%22">Fabbiani A</searchLink>; Medical Genetics Unit, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.; Medical Genetics, University of Siena, 53100 Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Croci+S%22">Croci S</searchLink>; Medical Genetics, University of Siena, 53100 Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Mencarelli+MA%22">Mencarelli MA</searchLink>; Medical Genetics Unit, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Bruno+LP%22">Bruno LP</searchLink>; Medical Genetics, University of Siena, 53100 Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Renieri+A%22">Renieri A</searchLink>; Medical Genetics Unit, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.; Medical Genetics, University of Siena, 53100 Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Veltra+D%22">Veltra D</searchLink>; Laboratory of Medical Genetics, School of Medicine, National & Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, 11527 Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Sofocleous+C%22">Sofocleous C</searchLink>; Laboratory of Medical Genetics, School of Medicine, National & Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, 11527 Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Faivre+L%22">Faivre L</searchLink>; Centre de référence Anomalies du Développement et Syndromes Malformatifs, Fédération Hospitalo-Universitaire TRANSLAD, CHU Dijon, 21079 Dijon, France.; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, 21078 Dijon, France.<br /><searchLink fieldCode="AU" term="%22Mazel+B%22">Mazel B</searchLink>; Centre de référence Anomalies du Développement et Syndromes Malformatifs, Fédération Hospitalo-Universitaire TRANSLAD, CHU Dijon, 21079 Dijon, France.<br /><searchLink fieldCode="AU" term="%22Safraou+H%22">Safraou H</searchLink>; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, 21078 Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France.<br /><searchLink fieldCode="AU" term="%22Denommé-Pichon+AS%22">Denommé-Pichon AS</searchLink>; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, 21078 Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France.<br /><searchLink fieldCode="AU" term="%22van+Slegtenhorst+MA%22">van Slegtenhorst MA</searchLink>; Clinical Genetics, Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, 3015 CN, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Giesbertz+N%22">Giesbertz N</searchLink>; Department of Genetics, University Medical Centre Utrecht, 3584 CX, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Jaarsveld+RH%22">van Jaarsveld RH</searchLink>; Department of Genetics, University Medical Centre Utrecht, 3584 CX, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Childers+A%22">Childers A</searchLink>; Greenwood Genetic Center, Greenville, SC 29646, USA.<br /><searchLink fieldCode="AU" term="%22Rogers+RC%22">Rogers RC</searchLink>; Greenwood Genetic Center, Greenville, SC 29646, USA.<br /><searchLink fieldCode="AU" term="%22Novelli+A%22">Novelli A</searchLink>; Laboratory of Medical Genetics, IRCCS, Ospedale Pediatrico Bambino Gesù, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22De+Rubeis+S%22">De Rubeis S</searchLink>; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.<br /><searchLink fieldCode="AU" term="%22Buxbaum+JD%22">Buxbaum JD</searchLink>; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.<br /><searchLink fieldCode="AU" term="%22Scherer+SW%22">Scherer SW</searchLink>; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada.; McLaughlin Centre, University of Toronto, Toronto, ON M5S 1A1, Canada.<br /><searchLink fieldCode="AU" term="%22Ferrero+GB%22">Ferrero GB</searchLink>; Department of Clinical and Biological Sciences, University of Turin, 10149 Orbassano, TO, Italy.<br /><searchLink fieldCode="AU" term="%22Wirth+B%22">Wirth B</searchLink>; Institute of Human Genetics, Center for Molecular Medicine Cologne, Center for Rare Diseases Cologne, University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.; Institute for Genetics, University of Cologne, 50674 Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22Brusco+A%22">Brusco A</searchLink>; Department of Medical Sciences, University of Turin, 10126 Turin, Italy.; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, 10126 Turin, Italy.
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