The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant.
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| Title: | The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant. |
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| Authors: | Aerden M; Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium. mio.aerden@uzleuven.be., Denommé-Pichon AS; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France., Bonneau D; Department of Biochemistry and Genetics, Angers University Hospital and UMR CNRS 6015-INSERM 1083, Angers, France., Bruel AL; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France., Delanne J; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France.; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon, Dijon, France., Gérard B; Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Mazel B; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France.; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon, Dijon, France., Philippe C; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France., Pinson L; Service de génétique - Centre de Référence Anomalies du Développement CLAD Sud Est, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, France., Prouteau C; Department of Biochemistry and Genetics, Angers University Hospital and UMR CNRS 6015-INSERM 1083, Angers, France., Putoux A; Centre de Référence Anomalies du Développement et Syndromes Malformatifs Centre Est, Hospices Civils de Lyon, Lyon, France., Tran Mau-Them F; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France., Viora-Dupont É; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France.; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon, Dijon, France., Vitobello A; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France., Ziegler A; Department of Biochemistry and Genetics, Angers University Hospital and UMR CNRS 6015-INSERM 1083, Angers, France., Piton A; Hôpitaux Universitaires de Strasbourg, Laboratoire de Diagnostic Génétique, Strasbourg, France., Isidor B; Service de Genetique Medicale, CHU de Nantes & Inserm, CNRS, Universite de Nantes, l'institut du thorax, Nantes, France., Francannet C; Service de Genetique Medicale, CHU de Clermont-Ferrand, Clermont-Ferrand, France., Maillard PY; Service de Genetique Medicale, IGMA, Hopitaux Universitaires de Strasbourg, Strasbourg, France., Julia S; Service de Génétique Clinique, CHU Toulouse, Toulouse, France., Philippe A; Service de Genetique Medicale, IGMA, Hopitaux Universitaires de Strasbourg, Strasbourg, France., Schaefer E; Service de Genetique Medicale, IGMA, Hopitaux Universitaires de Strasbourg, Strasbourg, France., Koene S; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Ruivenkamp C; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Hoffer M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Legius E; Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium., Theunis M; Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium., Keren B; Genetic Department, Pitié-Salpêtrière Hospital, AP-HP.Sorbonne Université, Paris, France., Buratti J; Genetic Department, Pitié-Salpêtrière Hospital, AP-HP.Sorbonne Université, Paris, France., Charles P; Genetic Department, Pitié-Salpêtrière Hospital, AP-HP.Sorbonne Université, Paris, France., Courtin T; Genetic Department, Pitié-Salpêtrière Hospital, AP-HP.Sorbonne Université, Paris, France., Misra-Isrie M; Department of Human Genetics, Amsterdam University Medical Centers, Location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., van Haelst M; Department of Human Genetics, Amsterdam University Medical Centers, Location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Waisfisz Q; Department of Human Genetics, Amsterdam University Medical Centers, Location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Wieczorek D; Heinrich-Heine-Universität, Institut für Humangenetik, Düsseldorf, Germany., Schmetz A; Heinrich-Heine-Universität, Institut für Humangenetik, Düsseldorf, Germany., 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., Debray FG; Centre Hospitalier Universitaire de Liège, Center of Human Genetics, Liège, Belgium., Bramswig NC; Heinrich-Heine-Universität, Institut für Humangenetik, Düsseldorf, Germany., Atallah I; Lausanne University Hospital, Division of Genetic Medicine, Lausanne, Switzerland., Fodstad H; Lausanne University Hospital, Division of Genetic Medicine, Lausanne, Switzerland., Jouret G; National Center of Genetics (NCG), Laboratoire national de santé (LNS), Dudelange, Luxembourg., Almoguera B; Fundación Jiménez Díaz Hospital, Department of Genetics and Genomics, Madrid, Spain., Tahsin-Swafiri S; Fundación Jiménez Díaz Hospital, Department of Genetics and Genomics, Madrid, Spain., Santos-Simarro F; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, Madrid, Spain.; Molecular Diagnostics and Clinical Genetics Unit (UDMGC), Hospital Universitari Son Espses, IdISBa, Palma, Spain., Palomares-Bralo M; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, Madrid, Spain., López-González V; Hospital Clínico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, Sección de Genética Médica, Servicio de Pediatría, Murcia, Spain., Kibaek M; Pediatric Department, Odense University Hospital, Odense, Denmark., Tørring PM; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Renieri A; Medical Genetics, University of Siena, Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Bruno LP; Medical Genetics, University of Siena, Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy., Õunap K; Tartu University Hospital, Genetic and Personalized Medicine Clinic, Department of Clinical Genetics, Tartu, Estonia.; University of Tartu, Institute of Clinical Medicine, Tartu, Estonia., Wojcik M; Department of Pediatrics, Boston Children's Hospital, Divisions of Newborn Medicine and Genetics and Genomics, Boston, MA, USA.; The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany., Krawitz P; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany., Van Esch H; Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium. hilde.vanesch@uzleuven.be. |
| Source: | European journal of human genetics : EJHG [Eur J Hum Genet] 2023 Apr; Vol. 31 (4), pp. 461-468. Date of Electronic Publication: 2023 Feb 07. |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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