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PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.

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Title: PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.
Authors: Masson A; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France., Paccaud J; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France., Orefice M; Department of Biology, University of Pisa, Pisa, Italy., Colin E; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.; University Hospital of Angers, Angers, France., Mäkitie O; Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Clinical Genetics and Genomics, Karolinska University Hospital, Solna, Sweden.; Folkhälsan Institute of Genetics, Helsinki, Finland.; Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Cormier-Daire V; INSERM UMR1163, Imagine Institute, Paris Cité University, Paris, France.; Service de médecine génomique des maladies rares, Centre de référence pour les maladies osseuses constitutionnelles, AP-HP, Hôpital Necker-Enfants Malades, Paris, F-75015, France., Relator R; Verspeeten Clinical Genome Centre, London Health Sciences, London, Ontario, Canada., Ghosh S; Verspeeten Clinical Genome Centre, London Health Sciences, London, Ontario, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada., Strub JM; Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, 67087, France.; Infrastructure Nationale de Protéomique ProFI, Strasbourg, 67087, France., Schaeffer-Reiss C; Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, 67087, France.; Infrastructure Nationale de Protéomique ProFI, Strasbourg, 67087, France., Marcelis C; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands., Koolen DA; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., de Boer E; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Vissers LE; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Gardeitchik T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Aarts LA; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands., Rinne T; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands., Terhal PA; Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands., Verbeek NE; Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands., Zuurbier LC; Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands., Plomp AS; Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands., Wessels MW; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands., de Man SA; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands.; Department of Pediatrics, Amphia Hospital, Breda, Netherlands., Bouman A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands., Bird LM; Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, California, USA., Saadeh-Haddad R; Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, USA., Guillen Sacoto MJ; GeneDx, LLC, Gaithersburg, Maryland, USA., Person R; GeneDx, LLC, Gaithersburg, Maryland, USA., Gooch C; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, USA., Hurst AC; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA., Hiatt SM; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA., Littlejohn RO; Department of Pediatrics, Baylor College of Medicine, San Antonio, Texas, USA., Roeder ER; Department of Pediatrics, Baylor College of Medicine, San Antonio, Texas, USA., Mori M; Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; The Ohio State University College of Medicine, Columbus, Ohio, USA., Hickey SE; Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; The Ohio State University College of Medicine, Columbus, Ohio, USA., Hunter JM; Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA., Lee K; Caris Life Sciences, Phoenix, Arizona, USA., Osman K; Genetics institute and., Halloun R; Pediatric endocrinology Unit, Ruth Rappaport Children's Hospital, Rambam Health Care Campus, Haifa, Israel., Bachmann-Gagescu R; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland., Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland.; University Children's Hospital Zurich, Zurich, Switzerland., Wieczorek D; Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Luppe J; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Duplomb-Jego L; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France., El It F; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France., Duffourd Y; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France., Tran Mau-Them F; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU-TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.; GCS AURAGEN, Lyon, France., Huber C; INSERM UMR1163, Imagine Institute, Paris Cité University, Paris, France.; Service de médecine génomique des maladies rares, Centre de référence pour les maladies osseuses constitutionnelles, AP-HP, Hôpital Necker-Enfants Malades, Paris, F-75015, France., Gordon CT; INSERM UMR1163, Imagine Institute, Paris Cité University, Paris, France., Taylan F; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Clinical Genetics and Genomics, Karolinska University Hospital, Solna, Sweden., Mäkitie RE; Folkhälsan Institute of Genetics, Helsinki, Finland.; Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland.; Department of Otorhinolaryngology, Head and Neck Surgery, Helsinki University Hospital, University of Helsinki, Helsinki, Finland., Costantini A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; INSERM UMR1163, Imagine Institute, Paris Cité University, Paris, France., Valta H; Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Robertson S; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand., Poke G; Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand., Francoise M; Centre Hospitalier William Morey, Chalon-sur-Saône, France., Ciolfi A; Molecular Genetics and Functional Genomics and., Tartaglia M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Ekhilevitch N; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel., Zaid R; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel., Levy MA; Verspeeten Clinical Genome Centre, London Health Sciences, London, Ontario, Canada., Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences, London, Ontario, Canada., McConkey H; Verspeeten Clinical Genome Centre, London Health Sciences, London, Ontario, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada., Delanne J; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France., Chevarin M; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France., Vautrot V; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France., Bourgeois V; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France., Nguyen S; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France., Marle N; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France., Callier P; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France., Safraou H; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU-TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.; GCS AURAGEN, Lyon, France., Morgan A; Murdoch Children's Research Institute, Parkville, Australia.; Department of Paediatrics, Royal Children's Hospital, University of Melbourne, Parkville, Australia., Amor DJ; Murdoch Children's Research Institute, Parkville, Australia.; Department of Paediatrics, Royal Children's Hospital, University of Melbourne, Parkville, Australia., Hildebrand MS; Murdoch Children's Research Institute, Parkville, Australia.; Department of Medicine, Austin Health, University of Melbourne, Heidelberg, Australia., Coman D; Queensland Children's Hospital, Brisbane, Australia.; School of Medicine, Univesrity of Queensland, Brisbane, Australia., Aubert Mucca M; Service de Génétique Médicale, Hôpital Purpan, CHU, 31059, Toulouse, France., Thevenon J; GCS AURAGEN, Lyon, France.; Service de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France.; Université Grenoble Alpes, INSERM U 1209, CNRS UMR 5309, Institut for Advanced Biosciences, Grenoble, France., Laffargue F; Service de Génétique Médicale, CHU de Clermont-Ferrand, Clermont-Ferrand, France., Bilan F; GCS AURAGEN, Lyon, France.; CHU de Poitiers, Service de Génétique, EA3808 NEUVACOD, Poitiers, France., Pebrel-Richard C; GCS AURAGEN, Lyon, France.; Cytogénétique Médicale, Centre Hospitalier Universitaire de Clermont-Ferrand, CHU Estaing, 63000 Clermont-Ferrand, France., Yoon G; Divisions of Neurology and Clinical and Metabolic Genetics, Department of Paediatrics, and., Axford MM; Division of Genome Diagnostics, Department of Laboratory Medicine and Pathobiology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada., Pérez-Jurado LA; Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain.; Hospital del Mar - Hospital del Mar Research Institute, Barcelona, Spain., Sevilla-Porras M; Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain., Black DL; Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, UCLA, Los Angeles, California, USA., Philippe C; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU-TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.; GCS AURAGEN, Lyon, France., Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences, London, Ontario, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada., Thauvin-Robinet C; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU-TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de référence maladies rares déficiences intellectuelles de causes rares, Centre de Génétique, FHU-TRANSLAD, Dijon, France., Olivier-Faivre L; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de Référence maladies rares, Anomalies du Développement et syndromes malformatifs, Centre de Génétique, FHU-TRANSLAD, Dijon, France., Ori M; Department of Biology, University of Pisa, Pisa, Italy., Thomas Q; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France., Vitobello A; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU-TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.; GCS AURAGEN, Lyon, France.
Source: The Journal of clinical investigation [J Clin Invest] 2025 Sep 18; Vol. 135 (22). Date of Electronic Publication: 2025 Sep 18 (Print Publication: 2025).
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: eCollection Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE
Database: MEDLINE Ultimate
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DbLabel: MEDLINE Ultimate
An: 40965981
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
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Items – Name: Title
  Label: Title
  Group: Ti
  Data: PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Masson+A%22">Masson A</searchLink>; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Paccaud+J%22">Paccaud J</searchLink>; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Orefice+M%22">Orefice M</searchLink>; Department of Biology, University of Pisa, Pisa, Italy.<br /><searchLink fieldCode="AU" term="%22Colin+E%22">Colin E</searchLink>; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.; University Hospital of Angers, Angers, France.<br /><searchLink fieldCode="AU" term="%22Mäkitie+O%22">Mäkitie O</searchLink>; Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Clinical Genetics and Genomics, Karolinska University Hospital, Solna, Sweden.; Folkhälsan Institute of Genetics, Helsinki, Finland.; Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland.<br /><searchLink fieldCode="AU" term="%22Cormier-Daire+V%22">Cormier-Daire V</searchLink>; INSERM UMR1163, Imagine Institute, Paris Cité University, Paris, France.; Service de médecine génomique des maladies rares, Centre de référence pour les maladies osseuses constitutionnelles, AP-HP, Hôpital Necker-Enfants Malades, Paris, F-75015, France.<br /><searchLink fieldCode="AU" term="%22Relator+R%22">Relator R</searchLink>; Verspeeten Clinical Genome Centre, London Health Sciences, London, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Ghosh+S%22">Ghosh S</searchLink>; Verspeeten Clinical Genome Centre, London Health Sciences, London, Ontario, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Strub+JM%22">Strub JM</searchLink>; Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, 67087, France.; Infrastructure Nationale de Protéomique ProFI, Strasbourg, 67087, France.<br /><searchLink fieldCode="AU" term="%22Schaeffer-Reiss+C%22">Schaeffer-Reiss C</searchLink>; Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, 67087, France.; Infrastructure Nationale de Protéomique ProFI, Strasbourg, 67087, France.<br /><searchLink fieldCode="AU" term="%22Marcelis+C%22">Marcelis C</searchLink>; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands.<br /><searchLink fieldCode="AU" term="%22Koolen+DA%22">Koolen DA</searchLink>; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands.<br /><searchLink fieldCode="AU" term="%22Pfundt+R%22">Pfundt R</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.<br /><searchLink fieldCode="AU" term="%22de+Boer+E%22">de Boer E</searchLink>; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.<br /><searchLink fieldCode="AU" term="%22Vissers+LE%22">Vissers LE</searchLink>; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.<br /><searchLink fieldCode="AU" term="%22Gardeitchik+T%22">Gardeitchik T</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.<br /><searchLink fieldCode="AU" term="%22Aarts+LA%22">Aarts LA</searchLink>; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands.<br /><searchLink fieldCode="AU" term="%22Rinne+T%22">Rinne T</searchLink>; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands.<br /><searchLink fieldCode="AU" term="%22Terhal+PA%22">Terhal PA</searchLink>; Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands.<br /><searchLink fieldCode="AU" term="%22Verbeek+NE%22">Verbeek NE</searchLink>; Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands.<br /><searchLink fieldCode="AU" term="%22Zuurbier+LC%22">Zuurbier LC</searchLink>; Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands.<br /><searchLink fieldCode="AU" term="%22Plomp+AS%22">Plomp AS</searchLink>; Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands.<br /><searchLink fieldCode="AU" term="%22Wessels+MW%22">Wessels MW</searchLink>; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands.<br /><searchLink fieldCode="AU" term="%22de+Man+SA%22">de Man SA</searchLink>; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands.; Department of Pediatrics, Amphia Hospital, Breda, Netherlands.<br /><searchLink fieldCode="AU" term="%22Bouman+A%22">Bouman A</searchLink>; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands.<br /><searchLink fieldCode="AU" term="%22Bird+LM%22">Bird LM</searchLink>; Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, California, USA.<br /><searchLink fieldCode="AU" term="%22Saadeh-Haddad+R%22">Saadeh-Haddad R</searchLink>; Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, USA.<br /><searchLink fieldCode="AU" term="%22Guillen+Sacoto+MJ%22">Guillen Sacoto MJ</searchLink>; GeneDx, LLC, Gaithersburg, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Person+R%22">Person R</searchLink>; GeneDx, LLC, Gaithersburg, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Gooch+C%22">Gooch C</searchLink>; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, USA.<br /><searchLink fieldCode="AU" term="%22Hurst+AC%22">Hurst AC</searchLink>; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.<br /><searchLink fieldCode="AU" term="%22Thompson+ML%22">Thompson ML</searchLink>; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA.<br /><searchLink fieldCode="AU" term="%22Hiatt+SM%22">Hiatt SM</searchLink>; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA.<br /><searchLink fieldCode="AU" term="%22Littlejohn+RO%22">Littlejohn RO</searchLink>; Department of Pediatrics, Baylor College of Medicine, San Antonio, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Roeder+ER%22">Roeder ER</searchLink>; Department of Pediatrics, Baylor College of Medicine, San Antonio, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Mori+M%22">Mori M</searchLink>; Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; The Ohio State University College of Medicine, Columbus, Ohio, USA.<br /><searchLink fieldCode="AU" term="%22Hickey+SE%22">Hickey SE</searchLink>; Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; The Ohio State University College of Medicine, Columbus, Ohio, USA.<br /><searchLink fieldCode="AU" term="%22Hunter+JM%22">Hunter JM</searchLink>; Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.<br /><searchLink fieldCode="AU" term="%22Lee+K%22">Lee K</searchLink>; Caris Life Sciences, Phoenix, Arizona, USA.<br /><searchLink fieldCode="AU" term="%22Osman+K%22">Osman K</searchLink>; Genetics institute and.<br /><searchLink fieldCode="AU" term="%22Halloun+R%22">Halloun R</searchLink>; Pediatric endocrinology Unit, Ruth Rappaport Children's Hospital, Rambam Health Care Campus, Haifa, Israel.<br /><searchLink fieldCode="AU" term="%22Bachmann-Gagescu+R%22">Bachmann-Gagescu R</searchLink>; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland.<br /><searchLink fieldCode="AU" term="%22Rauch+A%22">Rauch A</searchLink>; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland.; University Children's Hospital Zurich, Zurich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Wieczorek+D%22">Wieczorek D</searchLink>; Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany.<br /><searchLink fieldCode="AU" term="%22Platzer+K%22">Platzer K</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Luppe+J%22">Luppe J</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Duplomb-Jego+L%22">Duplomb-Jego L</searchLink>; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.<br /><searchLink fieldCode="AU" term="%22El+It+F%22">El It F</searchLink>; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Duffourd+Y%22">Duffourd Y</searchLink>; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Tran+Mau-Them+F%22">Tran Mau-Them F</searchLink>; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU-TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.; GCS AURAGEN, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Huber+C%22">Huber C</searchLink>; INSERM UMR1163, Imagine Institute, Paris Cité University, Paris, France.; Service de médecine génomique des maladies rares, Centre de référence pour les maladies osseuses constitutionnelles, AP-HP, Hôpital Necker-Enfants Malades, Paris, F-75015, France.<br /><searchLink fieldCode="AU" term="%22Gordon+CT%22">Gordon CT</searchLink>; INSERM UMR1163, Imagine Institute, Paris Cité University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Taylan+F%22">Taylan F</searchLink>; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Clinical Genetics and Genomics, Karolinska University Hospital, Solna, Sweden.<br /><searchLink fieldCode="AU" term="%22Mäkitie+RE%22">Mäkitie RE</searchLink>; Folkhälsan Institute of Genetics, Helsinki, Finland.; Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland.; Department of Otorhinolaryngology, Head and Neck Surgery, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.<br /><searchLink fieldCode="AU" term="%22Costantini+A%22">Costantini A</searchLink>; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; INSERM UMR1163, Imagine Institute, Paris Cité University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Valta+H%22">Valta H</searchLink>; Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.<br /><searchLink fieldCode="AU" term="%22Robertson+S%22">Robertson S</searchLink>; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.<br /><searchLink fieldCode="AU" term="%22Poke+G%22">Poke G</searchLink>; Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand.<br /><searchLink fieldCode="AU" term="%22Francoise+M%22">Francoise M</searchLink>; Centre Hospitalier William Morey, Chalon-sur-Saône, France.<br /><searchLink fieldCode="AU" term="%22Ciolfi+A%22">Ciolfi A</searchLink>; Molecular Genetics and Functional Genomics and.<br /><searchLink fieldCode="AU" term="%22Tartaglia+M%22">Tartaglia M</searchLink>; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Ekhilevitch+N%22">Ekhilevitch N</searchLink>; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.<br /><searchLink fieldCode="AU" term="%22Zaid+R%22">Zaid R</searchLink>; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.<br /><searchLink fieldCode="AU" term="%22Levy+MA%22">Levy MA</searchLink>; Verspeeten Clinical Genome Centre, London Health Sciences, London, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Kerkhof+J%22">Kerkhof J</searchLink>; Verspeeten Clinical Genome Centre, London Health Sciences, London, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22McConkey+H%22">McConkey H</searchLink>; Verspeeten Clinical Genome Centre, London Health Sciences, London, Ontario, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Delanne+J%22">Delanne J</searchLink>; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Chevarin+M%22">Chevarin M</searchLink>; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Vautrot+V%22">Vautrot V</searchLink>; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Bourgeois+V%22">Bourgeois V</searchLink>; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Nguyen+S%22">Nguyen S</searchLink>; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Marle+N%22">Marle N</searchLink>; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Callier+P%22">Callier P</searchLink>; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Safraou+H%22">Safraou H</searchLink>; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU-TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.; GCS AURAGEN, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Morgan+A%22">Morgan A</searchLink>; Murdoch Children's Research Institute, Parkville, Australia.; Department of Paediatrics, Royal Children's Hospital, University of Melbourne, Parkville, Australia.<br /><searchLink fieldCode="AU" term="%22Amor+DJ%22">Amor DJ</searchLink>; Murdoch Children's Research Institute, Parkville, Australia.; Department of Paediatrics, Royal Children's Hospital, University of Melbourne, Parkville, Australia.<br /><searchLink fieldCode="AU" term="%22Hildebrand+MS%22">Hildebrand MS</searchLink>; Murdoch Children's Research Institute, Parkville, Australia.; Department of Medicine, Austin Health, University of Melbourne, Heidelberg, Australia.<br /><searchLink fieldCode="AU" term="%22Coman+D%22">Coman D</searchLink>; Queensland Children's Hospital, Brisbane, Australia.; School of Medicine, Univesrity of Queensland, Brisbane, Australia.<br /><searchLink fieldCode="AU" term="%22Aubert+Mucca+M%22">Aubert Mucca M</searchLink>; Service de Génétique Médicale, Hôpital Purpan, CHU, 31059, Toulouse, France.<br /><searchLink fieldCode="AU" term="%22Thevenon+J%22">Thevenon J</searchLink>; GCS AURAGEN, Lyon, France.; Service de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France.; Université Grenoble Alpes, INSERM U 1209, CNRS UMR 5309, Institut for Advanced Biosciences, Grenoble, France.<br /><searchLink fieldCode="AU" term="%22Laffargue+F%22">Laffargue F</searchLink>; Service de Génétique Médicale, CHU de Clermont-Ferrand, Clermont-Ferrand, France.<br /><searchLink fieldCode="AU" term="%22Bilan+F%22">Bilan F</searchLink>; GCS AURAGEN, Lyon, France.; CHU de Poitiers, Service de Génétique, EA3808 NEUVACOD, Poitiers, France.<br /><searchLink fieldCode="AU" term="%22Pebrel-Richard+C%22">Pebrel-Richard C</searchLink>; GCS AURAGEN, Lyon, France.; Cytogénétique Médicale, Centre Hospitalier Universitaire de Clermont-Ferrand, CHU Estaing, 63000 Clermont-Ferrand, France.<br /><searchLink fieldCode="AU" term="%22Yoon+G%22">Yoon G</searchLink>; Divisions of Neurology and Clinical and Metabolic Genetics, Department of Paediatrics, and.<br /><searchLink fieldCode="AU" term="%22Axford+MM%22">Axford MM</searchLink>; Division of Genome Diagnostics, Department of Laboratory Medicine and Pathobiology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Pérez-Jurado+LA%22">Pérez-Jurado LA</searchLink>; Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain.; Hospital del Mar - Hospital del Mar Research Institute, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Sevilla-Porras+M%22">Sevilla-Porras M</searchLink>; Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Black+DL%22">Black DL</searchLink>; Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.<br /><searchLink fieldCode="AU" term="%22Philippe+C%22">Philippe C</searchLink>; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU-TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.; GCS AURAGEN, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Sadikovic+B%22">Sadikovic B</searchLink>; Verspeeten Clinical Genome Centre, London Health Sciences, London, Ontario, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Thauvin-Robinet+C%22">Thauvin-Robinet C</searchLink>; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU-TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de référence maladies rares déficiences intellectuelles de causes rares, Centre de Génétique, FHU-TRANSLAD, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Olivier-Faivre+L%22">Olivier-Faivre L</searchLink>; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de Référence maladies rares, Anomalies du Développement et syndromes malformatifs, Centre de Génétique, FHU-TRANSLAD, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Ori+M%22">Ori M</searchLink>; Department of Biology, University of Pisa, Pisa, Italy.<br /><searchLink fieldCode="AU" term="%22Thomas+Q%22">Thomas Q</searchLink>; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Vitobello+A%22">Vitobello A</searchLink>; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU-TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.; GCS AURAGEN, Lyon, France.
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  Data: <searchLink fieldCode="JN" term="%227802877%22">The Journal of clinical investigation</searchLink> [J Clin Invest] 2025 Sep 18; Vol. 135 (22). <i>Date of Electronic Publication: </i>2025 Sep 18 (<i>Print Publication: </i>2025).
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  Data: Journal Article; Research Support, Non-U.S. Gov't
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22American+Society+for+Clinical+Investigation%22">American Society for Clinical Investigation </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>7802877 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Internet <i>ISSN: </i>1558-8238 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200219738%22">00219738 </searchLink><i>NLM ISO Abbreviation: </i>J Clin Invest <i>Subsets: </i>MEDLINE
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        Value: 10.1172/JCI182100
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      – TitleFull: PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.
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              M: 09
              Text: 2025 Sep 18
              Type: published
              Y: 2025
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