| Authors: |
Shi Y; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Silva A; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., Debuy C; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Ghosh S; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., McConkey H; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Schot R; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Deng R; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Nikoncuk A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Hoefsloot LH; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., van Ham TJ; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Simpson BN; Center for Experimental Neurotherapeutics, St. Jude Children's Research Hospital, Department of Pediatrics, University of Tennessee Health Science Center, Le Bonheur Children's Hospital, Memphis, TN, USA., Miller D; Division of Genetics and Metabolism, Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA., Pillai NR; Division of Genetics and Metabolism, Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA., Holder-Espinasse M; Department of Clinical Genetics, Guy's Hospital London, UK., Almoguera B; Department of Genetics and Genomics. Fundación Jiménez Díaz University Hospital & Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain; CIBERER (Biomedical Research Network Center for Rare Diseases), Carlos III Health Institute (ISCIII). Madrid, Spain., Blanco-Kelly F; Department of Genetics and Genomics. Fundación Jiménez Díaz University Hospital & Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain; CIBERER (Biomedical Research Network Center for Rare Diseases), Carlos III Health Institute (ISCIII). Madrid, Spain., Clowes V; North West Thames Regional Genetics Service, London North West Healthcare NHS Trust, London, UK., Yoon G; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada., Monteleone B; Division of Clinical Genetics, NYU Grossman Long Island School of Medicine, 1111 Franklin Avenue, Pod3A, Garden City, NY 11530., Vasquez J; Division of Clinical Genetics, NYU Grossman Long Island School of Medicine, 1111 Franklin Avenue, Pod3A, Garden City, NY 11530., Pérez de la Fuente R; Department of Genetics, 12 de Octubre University Hospital, Madrid, Spain; Group of Rare, Mitochondrial and Neuromuscular Diseases (RMND), 12 de Octubre University Hospital Research Institute (i+12), Madrid, Spain; UDISGEN (Dysmorphology and Genetics Unit), 12 de Octubre University Hospital, Madrid, Spain., Bellido-Cuéllar S; Epilepsy-vEEG Unit. Neurology Department. 12 Octubre University Hospital, Madrid, Spain., Barrios-Machain U; UDISGEN (Dysmorphology and Genetics Unit), 12 de Octubre University Hospital, Madrid, Spain; Department of Pediatric Endocrinology, 12 Octubre University Hospital, Madrid, Spain., Moreno-Sáez Y; Department of Genetics, 12 de Octubre University Hospital, Madrid, Spain., Steindl K; University of Zurich, Institute of Medical Genetics, Wagistrasse 12, 8952 Schlieren, Switzerland., Begemann A; University of Zurich, Institute of Medical Genetics, Wagistrasse 12, 8952 Schlieren, Switzerland., Rauch A; University of Zurich, Institute of Medical Genetics, Wagistrasse 12, 8952 Schlieren, Switzerland; University Children's Hospital Zurich, Zurich, Switzerland., Busa T; Medical Genetics Department, Timone Children's Hospital, APHM, 13385 Marseille, France., Gorokhova S; Medical Genetics Department, Timone Children's Hospital, APHM, 13385 Marseille, France; Aix Marseille Univ, INSERM, Marseille Medical Genetics, U1251, 13385 Marseille, France., Lakhani S; Center for Neurogenetics, Weill Cornell Medicine, New York, NY, USA., Grinspan Z; Department of Pediatrics, Weill Cornell Medicine, New York, NY, USA., Garde A; Centre de Génétique, CRMRs 'Anomalies du Développement et syndromes malformatifs' et 'Déficiences Intellectuelles de causes rares', 'GenoPsy' et 'Neurogène', FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Mau Them FT; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU-TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France., Bruel AL; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU-TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France., Delanne J; Centre de Génétique, CRMRs 'Anomalies du Développement et syndromes malformatifs' et 'Déficiences Intellectuelles de causes rares', 'GenoPsy' et 'Neurogène', FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Safraou H; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU-TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France., Colin E; Centre de Génétique, CRMRs 'Anomalies du Développement et syndromes malformatifs' et 'Déficiences Intellectuelles de causes rares', 'GenoPsy' et 'Neurogène', FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU-TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France., Parikh AS; Center for Human Genetics, University Hospitals Cleveland Medical Center and Case Western Reserve University School of Medicine, Cleveland, Ohio, USA., Slavotinek A; Department of Pediatrics, University of California San Francisco, San Francisco., Devine P; Department of Pediatrics, University of California San Francisco, San Francisco., Shillington A; Cincinnati Children's Hospital Department of Human Genetics., Sorlin A; Clinical Genetics unit, National Center of Genetics, Laboratoire national de santé, Dudelange, Luxembourg., Menzies D; Foetopathologie, National Center of Pathologie, Laboratoire national de santé, Dudelange, Luxembourg., Mehta L; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA., Close C; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA., Heid C; Department of Pathology, University of Missouri, USA., Ahmed SA; Department of Clinical Genetics, Southern California Kaiser Permanente., Gomes A; Department of Pediatrics, University of California San Diego, San Diego, CA, USA; Division of Genetics/Dysmorphology, Rady Children's Hospital San Diego, San Diego, CA, USA., Bird LM; Department of Pediatrics, University of California San Diego, San Diego, CA, USA; Division of Genetics/Dysmorphology, Rady Children's Hospital San Diego, San Diego, CA, USA., Aref-Eshghi E; GeneDx, LLC, Gaithersburg MD 20877 USA., Cardona-Londoño KJ; Bioscience Program, Biological and Environmental Science and Engineering Division, Computational Bioscience Research Center, King Abdullah University of Science and Technology (KAUST), Thuwal, 23955-6900, Saudi Arabia., Arold ST; Bioscience Program, Biological and Environmental Science and Engineering Division, Computational Bioscience Research Center, King Abdullah University of Science and Technology (KAUST), Thuwal, 23955-6900, Saudi Arabia; Centre de Biologie Structurale, CNRS, INSERM, Université de Montpellier, 34090, Montpellier, France., Li JM; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany., Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany., Kleefstra T; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Lanko K; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Sadikovic B; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands. Electronic address: t.barakat@erasmusmc.nl. |
