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AUTS2-related syndrome: Insights from a large European cohort.

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Title: AUTS2-related syndrome: Insights from a large European cohort.
Authors: Loberti L; Medical Genetics, University of Siena, Siena, Italy; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Adamo L; Medical Genetics, University of Siena, Siena, Italy; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena, Italy., Antolini E; Medical Genetics, University of Siena, Siena, Italy; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena, Italy., Casamassima G; Medical Genetics, University of Siena, Siena, Italy; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena, Italy., Destrèe A; Institut de Pathologie et de Génétique, Gosselies, Belgium., Brunetti-Pierri N; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy; Scuola Superiore Meridionale (SSM, School of Advanced Studies), Genomics and Experimental Medicine Program, University of Naples Federico II, Naples, Italy., Genevieve D; Montpellier University and INSERM U1183, Montpellier, France; Reference Center for Malformative Syndrome and Developmental Anomalies, Clinical Genetics Unit, Montpellier University Hospital, ERN ITHACA, Montpellier, France., Christophe P; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement', FHU-TRANSLAD, Dijon, France., Coubes C; Département de Génétique Médicale, Hôpital Arnaud de Villeneuve, CHRU Montpellier, Montpellier, France., Van Esch H; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium., Herget T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Lisfeld J; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Möllring AC; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Zenker M; Institute of Human Genetics, University Hospital, Otto-von-Guericke University Magdeburg, Magdeburg, Germany., Levy J; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, France., Perrin L; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, France., Tabet AC; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, France., Maruani A; Excellence Centre for Autism & Neuro-developmental Disorders, Child and Adolescent Psychiatry Department, Robert Debré Hospital, Paris, and CRMR Déficiences intellectuelles et TND de causes rares-Robert-Debré, Paris, France., Sorlin A; National Center of Genetics, Laboratoire National de Santé, Dudelange, Luxembourg., Stieber D; National Center of Genetics, Laboratoire National de Santé, Dudelange, Luxembourg., Herissant L; National Center of Genetics, Laboratoire National de Santé, Dudelange, Luxembourg., Dahan K; National Center of Genetics, Laboratoire National de Santé, Dudelange, Luxembourg., Sinibaldi L; Medical Genetics Unit and Scientific Rectorate and Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Capolino R; Medical Genetics Unit and Scientific Rectorate and Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Dentici ML; Medical Genetics Unit and Scientific Rectorate and Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Dallapiccola B; Medical Genetics Unit and Scientific Rectorate and Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Novelli A; Medical Genetics Unit and Scientific Rectorate and Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Garavelli L; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy., Caraffi SG; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy., Piatelli G; U.O.C. Neurochirurgia, IRCCS Istituto Giannina Gaslini, Genova, Italy., Valenzuela I; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Spain., Digilio MC; Medical Genetics Unit and Scientific Rectorate and Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Caumes R; Service de Génétique Clinique, CHU Lille, Lille, France., Knopp C; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany., Chwiałkowska K; IMAGENE.ME SA, Bialystok, Poland; Centre for Bioinformatics and Data Analysis, Medical University of Bialystok, Białystok, Poland., Jezela-Stanek A; IMAGENE.ME SA, Bialystok, Poland; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland., Kwasniewski M; IMAGENE.ME SA, Bialystok, Poland; Centre for Bioinformatics and Data Analysis, Medical University of Bialystok, Białystok, Poland., Korotko U; IMAGENE.ME SA, Bialystok, Poland; Centre for Bioinformatics and Data Analysis, Medical University of Bialystok, Białystok, Poland., Gorzałczyńska E; IMAGENE.ME SA, Bialystok, Poland., Canitano R; Division of Child and Adolescent Neuropsychiatry, University of Siena, Siena, Italy., Grosso S; Clinical Paediatrics, Department of Molecular Medicine and Development, University of Siena, Siena, Italy., Rahikkala E; Department of Clinical Genetics, Research Unit of Clinical Medicine, and Medical Research Center Oulu, University of Oulu, and Oulu University Hospital, Oulu, Finland., Mattern L; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany., Elbracht M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany., Zuffardi O; Unit of Medical Genetics, Department of Molecular Medicine, University of Pavia, Pavia, Italy., Caputo V; Medical Genetics, University of Siena, Siena, Italy; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Toschi B; Medical Genetics Unit, Oncological Department, University Hospital of Pisa, Pisa, Italy., Beunders G; University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands., Leeuwen L; University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands., Elting MW; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands., van der Laan L; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands., Broekema MF; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands., Groffen AJ; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands., van de Kamp JM; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands., van Haelst MM; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands., Alders M; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands., Mauro SP; UOC Genetica Medica, Presidio Ospedaliero Vito Fazzi, Lecce, Italy., De Razza F; UOC Genetica Medica, Presidio Ospedaliero Vito Fazzi, Lecce, Italy., Varvara D; UOC Genetica Medica, Presidio Ospedaliero Vito Fazzi, Lecce, Italy., Kick J; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Gaspar H; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Braun D; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Lausberg E; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany., Maier A; Department of Neurology, Medical Faculty RWTH Aachen University, Aachen, Germany., Ruault V; Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHU Montpellier, Montpellier, France., Genesio R; Department of Molecular Medicine and Medical Biotechnology, Federico II University of Naples, Naples, Italy., Tartaglia M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Tita R; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Bruttini M; Medical Genetics, University of Siena, Siena, Italy; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Longo I; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Baldassarri M; Medical Genetics, University of Siena, Siena, Italy; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Mencarelli MA; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Renieri A; Medical Genetics, University of Siena, Siena, Italy; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Pinto AM; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy. Electronic address: annamaria.pinto@dbm.unisi.it.
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2025 Jun; Vol. 27 (6), pp. 101375. Date of Electronic Publication: 2025 Feb 12.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
Database: MEDLINE Ultimate
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DbLabel: MEDLINE Ultimate
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Items – Name: Title
  Label: Title
  Group: Ti
  Data: AUTS2-related syndrome: Insights from a large European cohort.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Loberti+L%22">Loberti L</searchLink>; Medical Genetics, University of Siena, Siena, Italy; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Adamo+L%22">Adamo L</searchLink>; Medical Genetics, University of Siena, Siena, Italy; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Antolini+E%22">Antolini E</searchLink>; Medical Genetics, University of Siena, Siena, Italy; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Casamassima+G%22">Casamassima G</searchLink>; Medical Genetics, University of Siena, Siena, Italy; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Destrèe+A%22">Destrèe A</searchLink>; Institut de Pathologie et de Génétique, Gosselies, Belgium.<br /><searchLink fieldCode="AU" term="%22Brunetti-Pierri+N%22">Brunetti-Pierri N</searchLink>; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy; Scuola Superiore Meridionale (SSM, School of Advanced Studies), Genomics and Experimental Medicine Program, University of Naples Federico II, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Genevieve+D%22">Genevieve D</searchLink>; Montpellier University and INSERM U1183, Montpellier, France; Reference Center for Malformative Syndrome and Developmental Anomalies, Clinical Genetics Unit, Montpellier University Hospital, ERN ITHACA, Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Christophe+P%22">Christophe P</searchLink>; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement', FHU-TRANSLAD, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Coubes+C%22">Coubes C</searchLink>; Département de Génétique Médicale, Hôpital Arnaud de Villeneuve, CHRU Montpellier, Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Van+Esch+H%22">Van Esch H</searchLink>; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.<br /><searchLink fieldCode="AU" term="%22Herget+T%22">Herget T</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Kortüm+F%22">Kortüm F</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Lisfeld+J%22">Lisfeld J</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Möllring+AC%22">Möllring AC</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Zenker+M%22">Zenker M</searchLink>; Institute of Human Genetics, University Hospital, Otto-von-Guericke University Magdeburg, Magdeburg, Germany.<br /><searchLink fieldCode="AU" term="%22Levy+J%22">Levy J</searchLink>; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, France.<br /><searchLink fieldCode="AU" term="%22Perrin+L%22">Perrin L</searchLink>; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, France.<br /><searchLink fieldCode="AU" term="%22Tabet+AC%22">Tabet AC</searchLink>; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, France.<br /><searchLink fieldCode="AU" term="%22Maruani+A%22">Maruani A</searchLink>; Excellence Centre for Autism & Neuro-developmental Disorders, Child and Adolescent Psychiatry Department, Robert Debré Hospital, Paris, and CRMR Déficiences intellectuelles et TND de causes rares-Robert-Debré, Paris, France.<br /><searchLink fieldCode="AU" term="%22Sorlin+A%22">Sorlin A</searchLink>; National Center of Genetics, Laboratoire National de Santé, Dudelange, Luxembourg.<br /><searchLink fieldCode="AU" term="%22Stieber+D%22">Stieber D</searchLink>; National Center of Genetics, Laboratoire National de Santé, Dudelange, Luxembourg.<br /><searchLink fieldCode="AU" term="%22Herissant+L%22">Herissant L</searchLink>; National Center of Genetics, Laboratoire National de Santé, Dudelange, Luxembourg.<br /><searchLink fieldCode="AU" term="%22Dahan+K%22">Dahan K</searchLink>; National Center of Genetics, Laboratoire National de Santé, Dudelange, Luxembourg.<br /><searchLink fieldCode="AU" term="%22Sinibaldi+L%22">Sinibaldi L</searchLink>; Medical Genetics Unit and Scientific Rectorate and Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Capolino+R%22">Capolino R</searchLink>; Medical Genetics Unit and Scientific Rectorate and Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Dentici+ML%22">Dentici ML</searchLink>; Medical Genetics Unit and Scientific Rectorate and Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Dallapiccola+B%22">Dallapiccola B</searchLink>; Medical Genetics Unit and Scientific Rectorate and Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Novelli+A%22">Novelli A</searchLink>; Medical Genetics Unit and Scientific Rectorate and Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Garavelli+L%22">Garavelli L</searchLink>; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.<br /><searchLink fieldCode="AU" term="%22Caraffi+SG%22">Caraffi SG</searchLink>; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.<br /><searchLink fieldCode="AU" term="%22Piatelli+G%22">Piatelli G</searchLink>; U.O.C. Neurochirurgia, IRCCS Istituto Giannina Gaslini, Genova, Italy.<br /><searchLink fieldCode="AU" term="%22Valenzuela+I%22">Valenzuela I</searchLink>; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Digilio+MC%22">Digilio MC</searchLink>; Medical Genetics Unit and Scientific Rectorate and Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Caumes+R%22">Caumes R</searchLink>; Service de Génétique Clinique, CHU Lille, Lille, France.<br /><searchLink fieldCode="AU" term="%22Knopp+C%22">Knopp C</searchLink>; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.<br /><searchLink fieldCode="AU" term="%22Chwiałkowska+K%22">Chwiałkowska K</searchLink>; IMAGENE.ME SA, Bialystok, Poland; Centre for Bioinformatics and Data Analysis, Medical University of Bialystok, Białystok, Poland.<br /><searchLink fieldCode="AU" term="%22Jezela-Stanek+A%22">Jezela-Stanek A</searchLink>; IMAGENE.ME SA, Bialystok, Poland; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland.<br /><searchLink fieldCode="AU" term="%22Kwasniewski+M%22">Kwasniewski M</searchLink>; IMAGENE.ME SA, Bialystok, Poland; Centre for Bioinformatics and Data Analysis, Medical University of Bialystok, Białystok, Poland.<br /><searchLink fieldCode="AU" term="%22Korotko+U%22">Korotko U</searchLink>; IMAGENE.ME SA, Bialystok, Poland; Centre for Bioinformatics and Data Analysis, Medical University of Bialystok, Białystok, Poland.<br /><searchLink fieldCode="AU" term="%22Gorzałczyńska+E%22">Gorzałczyńska E</searchLink>; IMAGENE.ME SA, Bialystok, Poland.<br /><searchLink fieldCode="AU" term="%22Canitano+R%22">Canitano R</searchLink>; Division of Child and Adolescent Neuropsychiatry, University of Siena, Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Grosso+S%22">Grosso S</searchLink>; Clinical Paediatrics, Department of Molecular Medicine and Development, University of Siena, Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Rahikkala+E%22">Rahikkala E</searchLink>; Department of Clinical Genetics, Research Unit of Clinical Medicine, and Medical Research Center Oulu, University of Oulu, and Oulu University Hospital, Oulu, Finland.<br /><searchLink fieldCode="AU" term="%22Mattern+L%22">Mattern L</searchLink>; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.<br /><searchLink fieldCode="AU" term="%22Elbracht+M%22">Elbracht M</searchLink>; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.<br /><searchLink fieldCode="AU" term="%22Zuffardi+O%22">Zuffardi O</searchLink>; Unit of Medical Genetics, Department of Molecular Medicine, University of Pavia, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Caputo+V%22">Caputo V</searchLink>; Medical Genetics, University of Siena, Siena, Italy; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Toschi+B%22">Toschi B</searchLink>; Medical Genetics Unit, Oncological Department, University Hospital of Pisa, Pisa, Italy.<br /><searchLink fieldCode="AU" term="%22Beunders+G%22">Beunders G</searchLink>; University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Leeuwen+L%22">Leeuwen L</searchLink>; University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Elting+MW%22">Elting MW</searchLink>; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+der+Laan+L%22">van der Laan L</searchLink>; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Broekema+MF%22">Broekema MF</searchLink>; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Groffen+AJ%22">Groffen AJ</searchLink>; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+de+Kamp+JM%22">van de Kamp JM</searchLink>; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Haelst+MM%22">van Haelst MM</searchLink>; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Alders+M%22">Alders M</searchLink>; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Mauro+SP%22">Mauro SP</searchLink>; UOC Genetica Medica, Presidio Ospedaliero Vito Fazzi, Lecce, Italy.<br /><searchLink fieldCode="AU" term="%22De+Razza+F%22">De Razza F</searchLink>; UOC Genetica Medica, Presidio Ospedaliero Vito Fazzi, Lecce, Italy.<br /><searchLink fieldCode="AU" term="%22Varvara+D%22">Varvara D</searchLink>; UOC Genetica Medica, Presidio Ospedaliero Vito Fazzi, Lecce, Italy.<br /><searchLink fieldCode="AU" term="%22Kick+J%22">Kick J</searchLink>; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.<br /><searchLink fieldCode="AU" term="%22Gaspar+H%22">Gaspar H</searchLink>; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.<br /><searchLink fieldCode="AU" term="%22Braun+D%22">Braun D</searchLink>; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.<br /><searchLink fieldCode="AU" term="%22Lausberg+E%22">Lausberg E</searchLink>; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.<br /><searchLink fieldCode="AU" term="%22Maier+A%22">Maier A</searchLink>; Department of Neurology, Medical Faculty RWTH Aachen University, Aachen, Germany.<br /><searchLink fieldCode="AU" term="%22Ruault+V%22">Ruault V</searchLink>; Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHU Montpellier, Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Genesio+R%22">Genesio R</searchLink>; Department of Molecular Medicine and Medical Biotechnology, Federico II University of Naples, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Tartaglia+M%22">Tartaglia M</searchLink>; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Tita+R%22">Tita R</searchLink>; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Bruttini+M%22">Bruttini M</searchLink>; Medical Genetics, University of Siena, Siena, Italy; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Longo+I%22">Longo I</searchLink>; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Baldassarri+M%22">Baldassarri M</searchLink>; Medical Genetics, University of Siena, Siena, Italy; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Mencarelli+MA%22">Mencarelli MA</searchLink>; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Renieri+A%22">Renieri A</searchLink>; Medical Genetics, University of Siena, Siena, Italy; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Pinto+AM%22">Pinto AM</searchLink>; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy. Electronic address: annamaria.pinto@dbm.unisi.it.
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  Data: <searchLink fieldCode="JN" term="%229815831%22">Genetics in medicine : official journal of the American College of Medical Genetics</searchLink> [Genet Med] 2025 Jun; Vol. 27 (6), pp. 101375. <i>Date of Electronic Publication: </i>2025 Feb 12.
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  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9815831 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1530-0366 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210983600%22">10983600 </searchLink><i>NLM ISO Abbreviation: </i>Genet Med <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=39953909
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      – Type: doi
        Value: 10.1016/j.gim.2025.101375
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
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        StartPage: 101375
    Titles:
      – TitleFull: AUTS2-related syndrome: Insights from a large European cohort.
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          Dates:
            – D: 01
              M: 06
              Text: 2025 Jun
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-electronic
              Value: 1530-0366
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            – Type: volume
              Value: 27
            – Type: issue
              Value: 6
          Titles:
            – TitleFull: Genetics in medicine : official journal of the American College of Medical Genetics
              Type: main
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