المؤلفون: de Boer, Elke, Ockeloen, Charlotte, Kampen, Rosalie, Hampstead, Juliet, Dingemans, Alexander, Rots, Dmitrijs, Lütje, Lukas, Ashraf, Tazeen, Baker, Rachel, Barat-Houari, Mouna, Angle, Brad, Chatron, Nicolas, Denommé-Pichon, Anne-Sophie, Devinsky, Orrin, Dubourg, Christèle, Elmslie, Frances, Elloumi, Houda Zghal, Faivre, Laurence, Fitzgerald-Butt, Sarah, Geneviève, David, Goos, Jacqueline, Helm, Benjamin, Kini, Usha, Lasa-Aranzasti, Amaia, Lesca, Gaetan, Lynch, Sally, Mathijssen, Irene, Mcgowan, Ruth, Monaghan, Kristin, Odent, Sylvie, Pfundt, Rolph, Putoux, Audrey, van Reeuwijk, Jeroen, Santen, Gijs, Sasaki, Erina, Sorlin, Arthur, van der Spek, Peter, Stegmann, Alexander, Swagemakers, Sigrid, Valenzuela, Irene, Viora-Dupont, Eléonore, Vitobello, Antonio, Ware, Stephanie, Wéber, Mathys, Gilissen, Christian, Low, Karen, Fisher, Simon, Dingemans, Alexander J.M., Goos, Jacqueline A.C., Mathijssen, Irene M.J., Santen, Gijs W.E., Stegmann, Alexander P.A., Swagemakers, Sigrid M.A., Vissers, Lisenka E.L.M., Wong, Maggie M.K., Kleefstra, Tjitske

المساهمون: MUMC+: DA KG Lab Specialisten (9), RS: FHML non-thematic output, Pathology, Plastic and Reconstructive Surgery and Hand Surgery, Radboud University [Nijmegen], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Hospices Civils de Lyon (HCL), Institut NeuroMyoGène (INMG), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Agro Dijon, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro), CHU Pontchaillou [Rennes], Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), FHU TRANSLAD (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft, This work was financially supported by Aspasia grants of the Dutch Research Council (015.014.036 to T.K. and 015.014.066 to L.E.L.M.V.), Netherlands Organization for Health Research and Development (91718310 to T.K.), and the Max Planck Society (M.M.K.W., S.E.F.). Individual 4 was sequenced at the Scottish Genomes Partnership. The Scottish Genomes Partnership was funded by the Chief Scientist Office of the Scottish Government Health Directorates (SGP/1) and the Medical Research Council Whole Genome Sequencing for Health and Wealth Initiative (MC/PC/15080). The Deciphering Developmental Disorders study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003). This study makes use of Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources (https://www.deciphergenomics.org/), which is funded by Wellcome. See Deciphering Developmental Disorders study8 or https://www.ddduk.org/access.html for full acknowledgment., Institut Català de la Salut, [de Boer E, Dingemans AJM, Rots D] Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands. Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands. [Ockeloen CW] Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands. [Kampen RA] Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands. [Hampstead JE] Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands. Radboud Institute for Molecular Life Sciences, Radboudumc, Nijmegen, The Netherlands. [Lasa-Aranzasti A] Àrea de Genètica Clínica i Molecular, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Grup de Recerca en Medicina Genètica, Vall d'Hebron Institut de Recerca (VHIR), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: de Boer, E, Ockeloen, C W, Kampen, R A, Hampstead, J E, Dingemans, A J M, Rots, D, Lütje, L, Ashraf, T, Baker, R, Barat-Houari, M, Angle, B, Chatron, N, Denommé-Pichon, A S, Devinsky, O, Dubourg, C, Elmslie, F, Elloumi, H Z, Faivre, L, Fitzgerald-Butt, S, Geneviève, D, Goos, J A C, Helm, B M, Kini, U, Lasa-Aranzasti, A, Lesca, G, Lynch, S A, Mathijssen, I M J, McGowan, R, Monaghan, K G, Odent, S, Pfundt, R, Putoux, A, van Reeuwijk, J, Santen, G W E, Sasaki, E, Sorlin, A, van der Spek, P J, Stegmann, A P A, Swagemakers, S M A, Valenzuela, I, Viora-Dupont, E, Vitobello, A, Ware, S M, Wéber, M, Gilissen, C, Low, K J, Fisher, S E, Vissers, L E L M, Wong, M M K & Kleefstra, T 2022, ' Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein ', Genetics in Medicine, vol. 24, no. 10, pp. 2051-2064 . https://doi.org/10.1016/j.gim.2022.06.007
Genetics in Medicine, 24, 2051-2064
Genetics in Medicine, 24(10), 2051-2064. Nature Publishing Group
Genetics in Medicine, 24(10), 2051-2064. Lippincott Williams & Wilkins
Genetics in Medicine
Genetics in Medicine, 2022, 24 (10), pp.2051-2064. ⟨10.1016/j.gim.2022.06.007⟩
Genetics in Medicine, 24, 10, pp. 2051-2064
Scientia
Genetics in Medicine, 24(10), 2051-2064. ELSEVIER SCIENCE INC

مصطلحات موضوعية: Neuroinformatics, Proteasome Endopeptidase Complex, [SDV]Life Sciences [q-bio], fenómenos genéticos::variación genética::mutación::mutación de sentido erróneo [FENÓMENOS Y PROCESOS], Mutation, Missense, Genotype-phenotype study, enfermedades musculoesqueléticas::enfermedades óseas::enfermedades óseas del desarrollo [ENFERMEDADES], Ossos - Malalties - Aspectes genètics, ANKRD11, All institutes and research themes of the Radboud University Medical Center, Missense variants, Intellectual Disability, Other subheadings::Other subheadings::/genetics [Other subheadings], Humans, Genotype–phenotype study, Musculoskeletal Diseases::Bone Diseases::Bone Diseases, Developmental [DISEASES], Abnormalities, Multiple, Genetics (clinical), [SDV.GEN]Life Sciences [q-bio]/Genetics, Bone Diseases, Developmental, Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Congenital Abnormalities::Stomatognathic System Abnormalities::Tooth Abnormalities [DISEASES], Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Otros calificadores::Otros calificadores::/genética [Otros calificadores], Tooth Abnormalities, Neurodevelopmental disorders, Facies, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], KBG syndrome, Repressor Proteins, Anomalies cromosòmiques, Phenotype, enfermedades y anomalías neonatales congénitas y hereditarias::anomalías congénitas::anomalías del sistema estomatognático::anomalías dentarias [ENFERMEDADES], Genetic Phenomena::Genetic Variation::Mutation::Mutation, Missense [PHENOMENA AND PROCESSES], Chromosome Deletion, Dents - Malformacions - Aspectes genètics, Transcription Factors

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::244a1f99ac7803d8c7cddcccfffebcec
https://hdl.handle.net/1887/3561457

المؤلفون: Elze L; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands., van der Post RS; Department of Pathology, Radboud university medical center, Nijmegen, The Netherlands., Vos JR; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands., Mensenkamp AR; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands., Pamidimarri Naga S; Department of Medical Oncology, Radboud university medical center, Nijmegen, The Netherlands., Hampstead JE; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands., Vermeulen E; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands., Oorsprong M; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands., Hofste T; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands., Simons M; Department of Pathology, Radboud university medical center, Nijmegen, The Netherlands., Nagtegaal ID; Department of Pathology, Radboud university medical center, Nijmegen, The Netherlands., Hoogerbrugge N; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands., de Voer RM; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands., Ligtenberg MJL; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.; Department of Pathology, Radboud university medical center, Nijmegen, The Netherlands.

المصدر: Journal of the National Cancer Institute [J Natl Cancer Inst] 2024 Jul 03. Date of Electronic Publication: 2024 Jul 03.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: United States NLM ID: 7503089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2105 (Electronic) Linking ISSN: 00278874 NLM ISO Abbreviation: J Natl Cancer Inst Subsets: MEDLINE

المؤلفون: de Boer E; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands., Ockeloen CW; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands., Kampen RA; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands., Hampstead JE; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences, Radboudumc, Nijmegen, The Netherlands., Dingemans AJM; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands., Rots D; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands., Lütje L; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands., Ashraf T; Department of Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom., Baker R; Advocate Children's Hospital, Park Ridge, IL., Barat-Houari M; Genetic Laboratory of Rare and Autoinflammatory Diseases, Department of Medical Genetics, Rare Diseases and Personalized Medicine, Centre Hospitalier Universitaire de Montpellier, Montpellier, France., Angle B; Advocate Children's Hospital, Park Ridge, IL., Chatron N; Service de Génétique, Hospices Civils de Lyon, Bron, France; Institut NeuroMyoGene, CNRS UMR5310, INSERM U1217, Université Claude Bernard Lyon 1, Lyon, France., Denommé-Pichon AS; Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, UMR1231-Inserm, Dijon, France; Laboratoire de Génétique Chromosomique et Moléculaire, UF6254 Innovation en Diagnostic Génomique des Maladies Rares, Centre Hospitalier Universitaire de Dijon, Dijon, France., Devinsky O; Department of Neurology, NYU Grossman School of Medicine, NYU Langone Health, New York, NY., Dubourg C; Service de Génétique Moléculaire et Génomique Médicale, CHU de Rennes, Rennes, France; University of Rennes, CNRS, IGDR, UMR 6290, Rennes, France., Elmslie F; South West Thames Regional Clinical Genetics Service, St George's Hospital, University of London, London, United Kingdom., Elloumi HZ; GeneDx, Gaithersburg, MD., Faivre L; Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, UMR1231-Inserm, Dijon, France; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon, Dijon, France., Fitzgerald-Butt S; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indiana University, Indianapolis, IN., Geneviève D; Medical Genetic Department, Rare Diseases and Personalized Medicine, Montpellier University, Inserm U1183, CHU Montpellier, Montpellier, France., Goos JAC; Department of Plastic and Reconstructive Surgery and Hand Surgery, Dutch Craniofacial Center, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands; Department of Bioinformatics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Helm BM; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indiana University, Indianapolis, IN; Department of Epidemiology, Richard M. Fairbanks School of Public Health, Indiana University, Indianapolis, IN., Kini U; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom., Lasa-Aranzasti A; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital and Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain., Lesca G; Service de Génétique, Hospices Civils de Lyon, Bron, France; Institut NeuroMyoGene, CNRS UMR5310, INSERM U1217, Université Claude Bernard Lyon 1, Lyon, France., Lynch SA; Department of Clinical Genetics, Children's Health Ireland at Crumlin and Temple Street, Dublin, Ireland., Mathijssen IMJ; Department of Plastic and Reconstructive Surgery and Hand Surgery, Dutch Craniofacial Center, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., McGowan R; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Scottish Genomes Partnership, Glasgow, United Kingdom., Monaghan KG; GeneDx, Gaithersburg, MD., Odent S; CHU Rennes, Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN ITHACA, Hôpital Sud, Rennes, France., Pfundt R; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands., Putoux A; Service de Génétique - Centre de Référence Anomalies du Développement, Hospices Civils de Lyon, Bron, France; Équipe GENDEV, Centre de Recherche en Neurosciences de Lyon, INSERM U1028 CNRS UMR5292, Université Claude Bernard Lyon 1, Lyon, France., van Reeuwijk J; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands., Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Sasaki E; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom., Sorlin A; Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, UMR1231-Inserm, Dijon, France; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, Dijon, France., van der Spek PJ; Department of Bioinformatics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Stegmann APA; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht University, Maastricht, The Netherlands., Swagemakers SMA; Department of Bioinformatics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Valenzuela I; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital and Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain., Viora-Dupont E; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, Dijon, France., Vitobello A; Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, UMR1231-Inserm, Dijon, France; Laboratoire de Génétique Chromosomique et Moléculaire, UF6254 Innovation en Diagnostic Génomique des Maladies Rares, Centre Hospitalier Universitaire de Dijon, Dijon, France., Ware SM; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indiana University, Indianapolis, IN; Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN., Wéber M; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, Dijon, France., Gilissen C; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences, Radboudumc, Nijmegen, The Netherlands., Low KJ; Department of Clinical Genetics, University Hospital Bristol and Weston NHS Foundation Trust, Bristol, United Kingdom., Fisher SE; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands., Vissers LELM; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands., Wong MMK; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands., Kleefstra T; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Nov; Vol. 25 (11), pp. 100962. Date of Electronic Publication: 2023 Sep 01.

نوع المنشور: Published Erratum

بيانات الدورية: 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: PubMed not MEDLINE; MEDLINE

المؤلفون: Wiel L; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6525 GA, the Netherlands; Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6525 GA, the Netherlands; Department of Medicine, Division of Cardiovascular Medicine, School of Medicine, Stanford University, Stanford, CA, USA., Hampstead JE; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6525 GA, the Netherlands., Venselaar H; Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6525 GA, the Netherlands., Vissers LELM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6525 GA, the Netherlands., Brunner HG; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6525 GA, the Netherlands., Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6525 GA, the Netherlands., Vriend G; Baco Institute of Protein Science, Baco, 5201 Mindoro, Philippines., Veltman JA; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK., Gilissen C; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6525 GA, the Netherlands. Electronic address: christian.gilissen@radboudumc.nl.

المصدر: American journal of human genetics [Am J Hum Genet] 2023 Jan 05; Vol. 110 (1), pp. 92-104. Date of Electronic Publication: 2022 Dec 22.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Neurodevelopmental Disorders*/genetics, Humans ; Protein Domains/genetics ; Mutation/genetics

المؤلفون: de Boer E; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands., Ockeloen CW; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands. Electronic address: Charlotte.Ockeloen@radboudumc.nl., Kampen RA; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands., Hampstead JE; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences, Radboudumc, Nijmegen, The Netherlands., Dingemans AJM; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands., Rots D; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands., Lütje L; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands., Ashraf T; Department of Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom., Baker R; Advocate Children's Hospital, Park Ridge, IL., Barat-Houari M; Genetic Laboratory of Rare and Autoinflammatory Diseases, Department of Medical Genetics, Rare Diseases and Personalized Medicine, Centre Hospitalier Universitaire de Montpellier, Montpellier, France., Angle B; Advocate Children's Hospital, Park Ridge, IL., Chatron N; Service de Génétique, Hospices Civils de Lyon, Bron, France; Institut NeuroMyoGene, CNRS UMR5310, INSERM U1217, Université Claude Bernard Lyon 1, Lyon, France., Denommé-Pichon AS; Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, UMR1231-Inserm, Dijon, France; Laboratoire de Génétique Chromosomique et Moléculaire, UF6254 Innovation en Diagnostic Génomique des Maladies Rares, Centre Hospitalier Universitaire de Dijon, Dijon, France., Devinsky O; Department of Neurology, NYU Grossman School of Medicine, NYU Langone Health, New York, NY., Dubourg C; Service de Génétique Moléculaire et Génomique Médicale, CHU de Rennes, Rennes, France; University of Rennes, CNRS, IGDR, UMR 6290, Rennes, France., Elmslie F; South West Thames Regional Clinical Genetics Service, St George's Hospital, University of London, London, United Kingdom., Elloumi HZ; GeneDx, Gaithersburg, MD., Faivre L; Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, UMR1231-Inserm, Dijon, France; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon, Dijon, France., Fitzgerald-Butt S; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indiana University, Indianapolis, IN., Geneviève D; Medical Genetic Department, Rare Diseases and Personalized Medicine, Montpellier University, Inserm U1183, CHU Montpellier, Montpellier, France., Goos JAC; Department of Plastic and Reconstructive Surgery and Hand Surgery, Dutch Craniofacial Center, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands; Department of Bioinformatics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Helm BM; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indiana University, Indianapolis, IN; Department of Epidemiology, Richard M. Fairbanks School of Public Health, Indiana University, Indianapolis, IN., Kini U; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom., Lasa-Aranzasti A; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital and Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain., Lesca G; Service de Génétique, Hospices Civils de Lyon, Bron, France; Institut NeuroMyoGene, CNRS UMR5310, INSERM U1217, Université Claude Bernard Lyon 1, Lyon, France., Lynch SA; Department of Clinical Genetics, Children's Health Ireland at Crumlin and Temple Street, Dublin, Ireland., Mathijssen IMJ; Department of Plastic and Reconstructive Surgery and Hand Surgery, Dutch Craniofacial Center, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., McGowan R; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Scottish Genomes Partnership, Glasgow, United Kingdom., Monaghan KG; GeneDx, Gaithersburg, MD., Odent S; CHU Rennes, Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN ITHACA, Hôpital Sud, Rennes, France., Pfundt R; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands., Putoux A; Service de Génétique - Centre de Référence Anomalies du Développement, Hospices Civils de Lyon, Bron, France; Équipe GENDEV, Centre de Recherche en Neurosciences de Lyon, INSERM U1028 CNRS UMR5292, Université Claude Bernard Lyon 1, Lyon, France., van Reeuwijk J; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands., Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Sasaki E; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom., Sorlin A; Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, UMR1231-Inserm, Dijon, France; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, Dijon, France., van der Spek PJ; Department of Bioinformatics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Stegmann APA; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht University, Maastricht, The Netherlands., Swagemakers SMA; Department of Bioinformatics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Valenzuela I; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital and Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain., Viora-Dupont E; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, Dijon, France., Vitobello A; Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, UMR1231-Inserm, Dijon, France; Laboratoire de Génétique Chromosomique et Moléculaire, UF6254 Innovation en Diagnostic Génomique des Maladies Rares, Centre Hospitalier Universitaire de Dijon, Dijon, France., Ware SM; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indiana University, Indianapolis, IN; Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN., Wéber M; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, Dijon, France., Gilissen C; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences, Radboudumc, Nijmegen, The Netherlands., Low KJ; Department of Clinical Genetics, University Hospital Bristol and Weston NHS Foundation Trust, Bristol, United Kingdom., Fisher SE; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands., Vissers LELM; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands., Wong MMK; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands., Kleefstra T; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Oct; Vol. 24 (10), pp. 2051-2064. Date of Electronic Publication: 2022 Jul 14.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: 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

مواضيع طبية MeSH: Abnormalities, Multiple*/genetics , Bone Diseases, Developmental*/etiology , Bone Diseases, Developmental*/genetics , Intellectual Disability*/genetics , Repressor Proteins*/genetics , Tooth Abnormalities*/diagnosis, Chromosome Deletion ; Facies ; Humans ; Mutation, Missense ; Phenotype ; Proteasome Endopeptidase Complex/genetics ; Transcription Factors/genetics

SCR Disease Name: KBG syndrome

المؤلفون: Hoegen B; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Hampstead JE; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Engelke UFH; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Kulkarni P; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Wevers RA; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Brunner HG; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Center, GROW School of Oncology and Development, MHENS School of Neuroscience, Maastricht University, Maastricht, The Netherlands., Coene KLM; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Gilissen C; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.

المصدر: Journal of inherited metabolic disease [J Inherit Metab Dis] 2022 Jul; Vol. 45 (4), pp. 682-695. Date of Electronic Publication: 2022 May 22.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

مواضيع طبية MeSH: Metabolic Diseases*/diagnosis , Metabolomics*/methods, Biomarkers/metabolism ; Humans ; Metabolic Networks and Pathways ; Metabolome

المؤلفون: Goldmann JM; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6525 GA, The Netherlands.; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen 6525 GA, The Netherlands., Hampstead JE; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6525 GA, The Netherlands.; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen 6525 GA, The Netherlands., Wong WSW; Inova Translational Medicine Institute (ITMI), Inova Health Systems, Falls Church, Virginia 22042, USA., Wilfert AB; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA., Turner TN; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA., Jonker MA; Department for Health Evidence, Radboud University Medical Center, Nijmegen 6525 GA, The Netherlands., Bernier R; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington 98195, USA., Huynen MA; Centre for Molecular and Biomolecular Informatics, Radboud University Medical Centre, Nijmegen 6525 GA, The Netherlands., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, Washington 98195, USA., Veltman JA; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, United Kingdom., Maxwell GL; Department of Obstetrics and Gynecology, Inova Fairfax Department and Inova Schar Cancer Institute, Falls Church, Virginia 22042, USA., Gilissen C; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6525 GA, The Netherlands.; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen 6525 GA, The Netherlands.

المصدر: Genome research [Genome Res] 2021 Sep; Vol. 31 (9), pp. 1513-1518. Date of Electronic Publication: 2021 Jul 23.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 9518021 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1549-5469 (Electronic) Linking ISSN: 10889051 NLM ISO Abbreviation: Genome Res Subsets: MEDLINE

مواضيع طبية MeSH: Germ Cells*, Humans ; Mutation