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
Description
ISSN:1530-0366
DOI:10.1016/j.gim.2025.101375