[1
]Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium
[2
]Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent
University, 9000 Ghent, Belgium
[3
]UMR1231 GAD, Inserm - Université de Bourgogne, Dijon, France
[4
]Centre de Référence Maladies Rares "Anomalies du Développement et Syndromes Malformatifs",
Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France
[5
]University Grenoble Alpes, Inserm U1209, CNRS UMR 5309, Institute for Advanced Biosciences
(IAB), 38000 Grenoble, France
[6
]Department of Pathology and Laboratory Medicine, Western University, London, ON N5A
3K7, Canada
[7
]Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON N6A 5W9,
Canada
[8
]Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD,
CHU Dijon Bourgogne, 21000 Dijon, France
[9
]GeneDx, Gaithersburg, MD, USA
[10
]Division of Medical Genetics, Department of Pediatrics, McGovern Medical School at
the University of Texas Health Science Center at Houston (UTHealth Houston), Houston,
TX, USA
[11
]Children’s Memorial Hermann Hospital, Houston, TX, USA
[12
]Unité de Génétique Chromosomique, CHU Montpellier, Montpellier, France
[13
]Montpellier University, Inserm U1183, Montpellier, France
[14
]Reference center for rare disease developmental anomaly malformative syndrome, Department
of Medical Genetics, Montpellier Hospital, Montpellier, France
[15
]Greenwood Genetic Center, Greenwood, SC, USA
[16
]Department of Paediatrics, Odense University Hospital, Odense, Denmark
[17
]Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark
[18
]Human Genetics, Department of Clinical Research, Health Faculty, University of Southern
Denmark, 5000 Odense, Denmark
[19
]Laboratoire de Génétique Chromosomique et Moléculaire, Pôle de Biologie, CHU de Dijon,
Dijon, France
[20
]Translational Cytogenomics Research Unit, Bambino Gesù Children’s Hospital, IRCCS,
Rome, Italy
[21
]Telethon Institute of Genetics and Medicine, Pozzuoli, Italy
[22
]Department of Translational Medicine, University of Naples Federico II, Naples, Italy
[23
]Medical Genetics Department, CHU Bordeaux, Bordeaux, France
[24
]INSERM U1211, Laboratoire MRGM, Bordeaux University, Bordeaux, France
[25
]Pathology Department, CHU Bordeaux, Bordeaux, France
[26
]Service de génétique, CHU de Reims, Reims, France
[27
]Service de génétique médicale, CHU de Nantes, Nantes, France
[28
]L’institut du thorax, INSERM, CNRS, UNIV Nantes, CHU de Nantes, Nantes, France
[29
]Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad
Institute of MIT and Harvard, Cambridge, MA, USA
[30
]Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Parkville,
VIC, Australia
[31
]Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA
[32
]Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX,
USA
[33
]Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics,
Baylor College of Medicine, Houston, TX, USA
[34
]Texas Children’s Hospital, Houston, TX, USA
[35
]Internal Medicine A, Danek Gertner Institute of Human Genetics, Sheba Medical Center,
Ramat Gan, Israel
[36
]Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
[37
]Baylor Genetics Laboratories, Houston, TX, USA
[38
]Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy
[39
]UO Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy
[40
]Neonatal Intensive Care Unit, Maggiore Hospital, Bologna, Italy
[41
]Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy
[42
]Université Paris Cité, Imagine Institute, INSERM UMR1163, Paris 75015, France
[43
]Department of Neurology, Ghent University Hospital, 9000 Ghent, Belgium
[44
]Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA
[45
]Centre de Référence Maladies Rares « Déficiences intellectuelles de causes rares »,
Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France
License:
This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).