Zobrazeno 1 - 10
of 1 557
pro vyhledávání: '"Van Reeuwijk J"'
Autor:
Schobers G; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands., Pennings M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., de Vries J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Kwint M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., van Reeuwijk J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands., Corominas Galbany J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., van Beek R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Kamping E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Timmermans R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Haer-Wigman L; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands., Cremers FPM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands., Roosing S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands., Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Kremer H; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands., Brunner HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.; Maastricht University Medical Center, Clinical Genetics, Maastricht, Netherlands., Yntema HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands. helger.ijntema@raboudumc.nl.; Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands. helger.ijntema@raboudumc.nl., Vissers LELM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands. lisenka.vissers@radboudumc.nl.; Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands. lisenka.vissers@radboudumc.nl.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Sep 27. Date of Electronic Publication: 2024 Sep 27.
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.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
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.
Autor:
Dingemans AJM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Artificial Intelligence, Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, the Netherlands., Hinne M; Department of Artificial Intelligence, Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, the Netherlands., Truijen KMG; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Goltstein L; 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., Schuurs-Hoeijmakers J; 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., Diets IJ; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., den Hoed J; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, the Netherlands., de Boer E; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Coenen-van der Spek J; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Jansen S; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., van Bon BW; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Jonis N; 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., 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., Campeau PM; Department of Pediatrics, University of Montreal, Montreal, Quebec, Canada., Palmer EE; Faculty of Medicine and Health, UNSW Sydney, Sydney, New South Wales, Australia.; Sydney Children's Hospitals Network, Sydney, New South Wales, Australia., Van Esch H; Center for Human Genetics, University Hospitals Leuven, University of Leuven, Leuven, Belgium., Lyon GJ; Department of Human Genetics and George A. Jervis Clinic, Institute for Basic Research in Developmental Disabilities (IBR), Staten Island, NY, USA.; Biology PhD Program, The Graduate Center, The City University of New York, New York City, NY, USA., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Rauch A; Institute of Medical Genetics, University of Zürich, Zürich, Switzerland., Marom R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Baralle D; Faculty of Medicine, University of Southampton, Southampton, UK., 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., van Gerven MAJ; Department of Artificial Intelligence, Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, the Netherlands., Vissers LELM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands. lisenka.vissers@radboudumc.nl., 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 genetics [Nat Genet] 2023 Sep; Vol. 55 (9), pp. 1598-1607. Date of Electronic Publication: 2023 Aug 07.
Autor:
de Boer E; Department of Human Genetics, Radboudumc University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, the Netherlands., Marcelis C; Department of Human Genetics, Radboudumc University Medical Center, Nijmegen, the Netherlands., Neveling K; Department of Human Genetics, Radboudumc University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, the Netherlands., van Beusekom E; Department of Human Genetics, Radboudumc University Medical Center, Nijmegen, the Netherlands., Hoischen A; Department of Human Genetics, Radboudumc University Medical Center, Nijmegen, the Netherlands.; Department of Internal Medicine and Radboud Center for Infectious Diseases, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands., Klein WM; Department of Medical Imaging, Radiology, Radboud University Medical Center, Nijmegen, the Netherlands., de Leeuw N; Department of Human Genetics, Radboudumc University Medical Center, Nijmegen, the Netherlands., Mantere T; Department of Human Genetics, Radboudumc University Medical Center, Nijmegen, the Netherlands.; Laboratory of Cancer Genetics and Tumor Biology, Cancer and Translational Medicine Research Unit and Biocenter Oulu, University of Oulu, Oulu, Finland., Melo US; Max Planck Institute for Molecular Genetics, RG Development & Disease, Berlin, Germany.; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany., van Reeuwijk J; Department of Human Genetics, Radboudumc University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, the Netherlands., Smeets D; Department of Human Genetics, Radboudumc University Medical Center, Nijmegen, the Netherlands., Spielmann M; Max Planck Institute for Molecular Genetics, RG Development & Disease, Berlin, Germany.; Institute of Human Genetics, University Hospitals Schleswig-Holstein, University of Lübeck and Kiel University, 23562 Lübeck, Kiel, Germany.; DZHK (German Centre for Cardiovascular Research), Partner Site Hamburg/Lübeck/Kiel, Lübeck, Germany., Kleefstra T; Department of Human Genetics, Radboudumc University Medical Center, 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., van Bokhoven H; Department of Human Genetics, Radboudumc University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, the Netherlands.; Department of Cognitive Neuroscience, Radboudumc, Nijmegen, the Netherlands., Vissers LELM; Department of Human Genetics, Radboudumc University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, the Netherlands.
Publikováno v:
HGG advances [HGG Adv] 2023 Apr 25; Vol. 4 (3), pp. 100200. Date of Electronic Publication: 2023 Apr 25 (Print Publication: 2023).
Autor:
van der Sanden BPGH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Schobers G; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Corominas Galbany J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Koolen DA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Sinnema M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., van Reeuwijk J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Stumpel CTRM; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; GROW School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands., Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., de Vries BBA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Ruiterkamp-Versteeg M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Leijsten N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Kwint M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Derks R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Swinkels H; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., den Ouden A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Rinne T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., de Leeuw N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Stegmann AP; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Stevens SJ; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., van den Wijngaard A; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Brunner HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; GROW School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands., Yntema HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Nelen MR; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Vissers LELM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. lisenka.vissers@radboudumc.nl.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. lisenka.vissers@radboudumc.nl.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2023 Jan; Vol. 31 (1), pp. 81-88. Date of Electronic Publication: 2022 Sep 16.
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. 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.
Publikováno v:
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.
Autor:
van der Velde KJ; University of Groningen and University Medical Center Groningen, Genomics Coordination Center, Antonius Deusinglaan 1, 9713 AV, Groningen, The Netherlands.; University of Groningen and University Medical Center Groningen, Department of Genetics, Antonius Deusinglaan 1, 9713 AV, Groningen, The Netherlands., Singh G; Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Center for Molecular and Biomolecular Informatics, Geert Grooteplein 28, 6525 GA, Nijmegen, The Netherlands., Kaliyaperumal R; Leiden University Medical Center, Department of Human Genetics, Einthovenweg 20, 2333 ZC, Leiden, The Netherlands., Liao X; Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Center for Molecular and Biomolecular Informatics, Geert Grooteplein 28, 6525 GA, Nijmegen, The Netherlands., de Ridder S; Amsterdam University Medical Center, University of Amsterdam, Department of Pathology, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands., Rebers S; The Netherlands Cancer Institute, Division of Molecular Pathology, Plesmanlaan 121, 1066 CX, Amsterdam, The Netherlands., Kerstens HHD; Prinses Máxima Center for Pediatric Oncology, Kemmeren group, Heidelberglaan 25, 3584 CS, Utrecht, The Netherlands., de Andrade F; University of Groningen and University Medical Center Groningen, Genomics Coordination Center, Antonius Deusinglaan 1, 9713 AV, Groningen, The Netherlands., van Reeuwijk J; Radboud University Medical Center, Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Geert Grooteplein 10, 6525 GA, Nijmegen, The Netherlands., De Gruyter FE; University Medical Center Utrecht, Department of Genetics, Heidelberglaan 100, 3584 CX, Utrecht, The Netherlands., Hiltemann S; Erasmus Medical Center, Department of Pathology, Doctor Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands., Ligtvoet M; Nictiz - Dutch competence centre for electronic exchange of health and care information, Oude Middenweg 55, 2491 AC, The Hague, The Netherlands., Weiss MM; Radboud University Medical Center, Department of Human Genetics, Geert Grooteplein 10, 6525 GA, Nijmegen, The Netherlands., van Deutekom HWM; University Medical Center Utrecht, Department of Genetics, Heidelberglaan 100, 3584 CX, Utrecht, The Netherlands., Jansen AML; University Medical Center Utrecht, Department of Pathology, Heidelberglaan 100, 3584 CX, Utrecht, The Netherlands., Stubbs AP; Erasmus Medical Center, Department of Pathology, Doctor Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands., Vissers LELM; Radboud University Medical Center, Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Geert Grooteplein 10, 6525 GA, Nijmegen, The Netherlands., Laros JFJ; Leiden University Medical Center, Department of Human Genetics, Einthovenweg 20, 2333 ZC, Leiden, The Netherlands.; Leiden University Medical Center, Department of Clinical Genetics, Einthovenweg 20, 2333 ZC, Leiden, The Netherlands.; Rijksinstituut voor Volksgezondheid en Milieu, Antonie van Leeuwenhoeklaan 9, 3721 MA, Bilthoven, The Netherlands., van Enckevort E; University of Groningen and University Medical Center Groningen, Genomics Coordination Center, Antonius Deusinglaan 1, 9713 AV, Groningen, The Netherlands., Stemkens D; VSOP - Patient Alliance for Rare and Genetic Diseases The Netherlands, Koninginnelaan 23, 3762 DA, Soest, The Netherlands., 't Hoen PAC; Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Center for Molecular and Biomolecular Informatics, Geert Grooteplein 28, 6525 GA, Nijmegen, The Netherlands., Beliën JAM; Amsterdam University Medical Center, Vrije Universiteit Amsterdam, Department of Pathology, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands., van Gijn ME; University of Groningen and University Medical Center Groningen, Department of Genetics, Antonius Deusinglaan 1, 9713 AV, Groningen, The Netherlands., Swertz MA; University of Groningen and University Medical Center Groningen, Genomics Coordination Center, Antonius Deusinglaan 1, 9713 AV, Groningen, The Netherlands. m.a.swertz@rug.nl.; University of Groningen and University Medical Center Groningen, Department of Genetics, Antonius Deusinglaan 1, 9713 AV, Groningen, The Netherlands. m.a.swertz@rug.nl.
Publikováno v:
Scientific data [Sci Data] 2022 Apr 13; Vol. 9 (1), pp. 169. Date of Electronic Publication: 2022 Apr 13.
Autor:
Dingemans AJM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Radboud University, Nijmegen, The Netherlands; Department of Artificial Intelligence, Faculty of Social Sciences, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Radboud University, Nijmegen, The Netherlands., Hinne M; Department of Artificial Intelligence, Faculty of Social Sciences, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Radboud University, Nijmegen, The Netherlands., Jansen S; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Radboud University, Nijmegen, The Netherlands., van Reeuwijk J; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Radboud University, Nijmegen, The Netherlands., de Leeuw N; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Radboud University, Nijmegen, The Netherlands., Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Radboud University, Nijmegen, The Netherlands., van Bon BW; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Radboud University, Nijmegen, The Netherlands., Vulto-van Silfhout AT; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Radboud University, Nijmegen, The Netherlands., Kleefstra T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Radboud University, Nijmegen, The Netherlands., Koolen DA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Radboud University, Nijmegen, The Netherlands., van Gerven MAJ; Department of Artificial Intelligence, Faculty of Social Sciences, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Radboud University, Nijmegen, The Netherlands., Vissers LELM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Radboud University, Nijmegen, The Netherlands., de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Radboud University, Nijmegen, The Netherlands. Electronic address: Bert.deVries@radboudumc.nl.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Mar; Vol. 24 (3), pp. 645-653. Date of Electronic Publication: 2021 Nov 30.