[Tooth eruption disturbances and syndromes]

Autor: Bc, Oosterkamp, Cw, Ockeloen, Carine Carels, Am, Kuijpers-Jagtman

Publikováno v: Europe PubMed Central

In the tooth eruption mechanism, various disturbances can appear as a result of gene mutations, a consequence of which can be that tooth eruption does not occur. There are 5 syndromes which involve the complete failure of several or even all teeth to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::84dda267c37ff41e2abeaefed23d739d
http://europepmc.org/abstract/med/24881265

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.

Autor: Rots D; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands; Genetics Laboratory, Children's Clinical University Hospital, Riga, Latvia., Choufani S; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON M5G 1X8, Canada., Faundes V; Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de Los Alimentos (INTA), Universidad de Chile, Santiago, Chile; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Dingemans AJM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Joss S; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, UK., Foulds N; Wessex Clinical Genetics Services, University Hospital Southampton NHS Foundation Trust, Southampton SO16 5YA, UK., Jones EA; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Stewart S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Vasudevan P; Department of Clinical Genetics, University Hospitals of Leicester, Leicester Royal Infirmary, Leicester LE1 7RH, UK., Dabir T; Northern Ireland Regional Genetics Centre, Belfast City Hospital, Belfast, UK., Park SM; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Jewell R; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK., Brown N; Victorian Clinical Genetics Service, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, Royal Children's Hospital, The University of Melbourne, Melbourne, VIC, Australia., Pais L; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Jacquemont S; Department of Pediatrics, University of Montreal, Montreal, QC, Canada., Jizi K; Service de Génétique Médicale, CHU Ste-Justine, Montréal, QC, Canada., Ravenswaaij-Arts CMAV; University of Groningen, University Medical Centre Groningen, Department Genetics, Groningen, the Netherlands., Kroes HY; Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Stumpel CTRM; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands; GROW-School for Oncology and Reproduction, Maastricht, the Netherlands., Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Diets IJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Nizon M; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France., Vincent M; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France., Cogné B; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France., Besnard T; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France., Kambouris M; Division of Genetics, Department of Pathology and Laboratory Medicine Department, Sidra Medicine, Doha, Qatar., Anderson E; Liverpool Centre for Genomic Medicine, Liverpool Women's NHS Foundation Trust, Liverpool, UK., Zackai EH; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., McDougall C; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Donoghue S; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., O'Donnell-Luria A; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Valivullah Z; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., O'Leary M; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA, USA., Srivastava S; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Byers H; Department of Pediatrics, Stanford University, Stanford, CA, USA., Leslie N; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Mazzola S; Center for Personalized Genetic Healthcare, Cleveland Clinic, Cleveland, OH, USA., Tiller GE; Department of Genetics, Kaiser Permanente, Los Angeles, CA, USA., Vera M; Department of Genetics, Kaiser Permanente, Los Angeles, CA, USA., Shen JJ; Division of Genetics, Department of Pediatrics, UCSF Fresno, Fresno, CA, USA; Division of Genomic Medicine, Department of Pediatrics, University of California Davis, Sacramento, CA, USA., Boles R; NeuraBilities Healthcare, Philadelphia, PA, USA., Jain V; All Wales Medical Genomics Service, Wales Genomic Health Centre, Cardiff Edge Business Park, Longwood Drive, Whitchurch, Cardiff CF14 7YU, UK., Brischoux-Boucher E; Centre de Génétique Humaine, CHU de Besançon, Université de Franche-Comté, Besançon, France., Kinning E; Clinical Genetics, Birmingham Women's and Children's, Birmingham, UK., Simpson BN; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati, Cincinnati, OH, USA., Giltay JC; Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Harris J; Kennedy Krieger Institute, Baltimore, MD, USA; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Keren B; Department of Genetics, APHP Sorbonne University, Paris, France., Guimier A; Service de Médecine Genomique des Maladies Rares, CRMR Anomalies Du Développement, Hôpital Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris, Paris, France., Marijon P; Laboratoire de Biologie Médicale Multisites Seqoia FMG2025, 75014 Paris, France., Vries BBA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Motter CS; Genetic Center, Akron Children's Hospital, Akron, OH, USA., Mendelsohn BA; Department of Medical Genetics, Kaiser Permanente, Oakland, CA, USA., Coffino S; Department of Pediatric Neurology, Kaiser Permanente, Oakland, CA, USA., Gerkes EH; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands., Afenjar A; APHP Sorbonne Université, Centre de Référence Malformations et Maladies Congénitales Du Cervelet et Déficiences Intellectuelles de Causes Rares, Département de Génétique et Embryologie Médicale, Hôpital Trousseau, Paris, France., Visconti P; IRCCS Istituto Delle Scienze Neurologiche di Bologna, UOSI Disturbi Dello Spettro Autistico, Bologna, Italy., Bacchelli E; Pharmacy and Biotechnology Department, University of Bologna, Bologna, Italy., Maestrini E; Pharmacy and Biotechnology Department, University of Bologna, Bologna, Italy., Delahaye-Duriez A; Medical Genomics and Clinical Genetics Unit, AP-HP, Hôpital Jean Verdier, Bondy, France., Gooch C; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis, MO, USA., Hendriks Y; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Adams H; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands., Thauvin-Robinet C; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Dijon, France; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France; Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Josephi-Taylor S; Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, NSW, Australia; Discipline of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia., Bertoli M; Northern Genetics Service, Newcastle Upon Tyne NHS Foundation Trust, Newcastle Upon Tyne, UK., Parker MJ; Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, UK., Rutten JW; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Caluseriu O; Department of Medical Genetics, University of Alberta, Edmonton, Canada., Vernon HJ; Johns Hopkins University School of Medicine, Baltimore, MD, USA., Kaziyev J; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Zhu J; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Kremen J; Division of Endocrinology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Frazier Z; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Osika H; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Breault D; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Nair S; Department of Fetal Medicine, Lifeline Super Specialty Hospital, Kerala, India., Lewis SME; Department of Medical Genetics, BC Children's Hospital Research Institute, The University of British Columbia, Vancouver, BC, Canada., Ceroni F; Pharmacy and Biotechnology Department, University of Bologna, Bologna, Italy; Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK., Viggiano M; Pharmacy and Biotechnology Department, University of Bologna, Bologna, Italy., Posar A; IRCCS Istituto Delle Scienze Neurologiche di Bologna, UOSI Disturbi Dello Spettro Autistico, Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Brittain H; Department of Clinical Genetics, Birmingham Women's & Children's NHS Trust, Birmingham, UK., Giovanna T; Medical Genetics Unit, Meyer Children's Hospital IRCCS Florence, Florence, Italy., Giulia G; Medical Genetics Unit,Meyer Children's Hospital IRCCS, Florence, Italy., Quteineh L; Division of Genetic Medicine, Geneva University Hospitals, 1205 Geneva, Switzerland., Ha-Vinh Leuchter R; Division of Development and Growth, Department of Pediatrics, University of Geneva, Geneva, Switzerland., Zonneveld-Huijssoon E; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands., Mellado C; Sección de Genética y Errores Congénitos Del Metabolismo, División de Pediatría, Pontificia Universidad Católica de Chile, Santiago, Chile., Marey I; CHU Grenoble Alpes, Grenoble, France., Coudert A; CHU Grenoble Alpes, Grenoble, France., Aracena Alvarez MI; Unit of Genetics and Metabolic Diseases, Division of Pediatrics, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile., Kennis MGP; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Bouman A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Roifman M; The Prenatal Diagnosis and Medical Genetics Program, Division of Maternal Fetal Medicine, Department of Obstetrics and Gynaecology, University of Toronto, Toronto, Canada., Amorós Rodríguez MI; Deparment of Pediatrics, Hospital Punta Europa Algeciras, Cadiz, Spain., Ortigoza-Escobar JD; Movement Disorders Unit, Institut de Recerca Sant Joan de Déu, CIBERER-ISCIII and European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain., Vernimmen V; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands; GROW-School for Oncology and Reproduction, Maastricht, the Netherlands., Sinnema M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Brunner HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Vissers LELM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands., Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, the Netherlands. Electronic address: t.kleefstra@erasmusmc.nl., Weksberg R; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, the Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada. Electronic address: rweksb@sickkids.ca., Banka S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2024 Aug 08; Vol. 111 (8), pp. 1626-1642. Date of Electronic Publication: 2024 Jul 15.

Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals.

Autor: Dingemans AJM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Jansen S; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., van Reeuwijk J; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., de Leeuw N; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Schuurs-Hoeijmakers J; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., van Bon BW; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Marcelis C; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Ockeloen CW; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Willemsen M; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., van der Sluijs PJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Kooy RF; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium., Vulto-van Silfhout AT; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Kleefstra T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Koolen DA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Vissers LELM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands. Bert.deVries@radboudumc.nl.

Publikováno v: Nature medicine [Nat Med] 2024 Jul; Vol. 30 (7), pp. 1994-2003. Date of Electronic Publication: 2024 May 14.

Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome.

Autor: Buijsse N; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Jansen FE; Department of Pediatric Neurology, Brain Center, University Medical Center Utrecht, Utrecht, The Netherlands., Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., van Kempen MJA; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Zeidler S; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Willemsen MH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Scarano E; Department of Pediatrics, St. Orsola-Malpighi Hospital, Bologna, Italy., Monticone S; Department of Pediatrics, Azienda Ospedaliero Universitaria Maggiore della Carità, Novara, Italy., Zonneveld-Huijssoon E; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Low KJ; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS trust, University of Bristol, Bristol, UK., Bayat A; Department for Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark., Sisodiya SM; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology and Chalfont Centre for Epilepsy, Chalfont St Peter, UK., Samanta D; Child Neurology Section, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA., Lesca G; Department of Genetics, University Hospitals of Lyon, Lyon, France., de Jong D; Department of Neurology, Academic Center for Epileptology Kempenhaeghe/MUMC+, Heeze, The Netherlands., Giltay JC; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Verbeek NE; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Brilstra EH; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Vlaskamp DRM; Department of Pediatrics, University Medical Center Utrecht, Utrecht, The Netherlands.

Publikováno v: Epilepsia open [Epilepsia Open] 2023 Dec; Vol. 8 (4), pp. 1300-1313. Date of Electronic Publication: 2023 Aug 18.

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.

Autor: 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.

Publikováno v: 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.