Author information:
(1)Department of Surgery, Division of Orthopaedic Surgery, The Children's 
Hospital of Philadelphia, Philadelphia, PA 19104, USA.
(2)Department of Obstetrics and Gynecology, Wayne State University School of 
Medicine, Detroit, MI 48201, USA.
(3)Division of Medical Genetics, Department of Pediatrics, David Geffen School 
of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.
(4)Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, 
CA 90027, USA.
(5)Division of Medical Genetics, Department of Pediatrics, David Geffen School 
of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; 
Department of Human Genetics, David Geffen School of Medicine, University of 
California, Los Angeles, Los Angeles, CA 90095, USA.
(6)Department of Clinical Genetics, Leiden University Medical Centre, 2300 LC 
Leiden, the Netherlands.
(7)Division of Clinical and Metabolic Genetics, Department of Pediatrics, The 
Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada; 
Institute of Medical Sciences, University of Toronto, Toronto, ON M5G 1X8, 
Canada.
(8)Institute of Human Genetics, University Hospital Essen, University of 
Duisburg-Essen, 45147 Essen, Germany.
(9)Institute of Human Genetics, University Hospital Essen, University of 
Duisburg-Essen, 45147 Essen, Germany; Institute für Humangenetik, 
Universitätsklinikum Düsseldorf, Heinrich-Heine-Universität, 40225 Düsseldorf, 
Germany.
(10)Neurovascular Unit and Cognitive Disorders (EA-3808 NEUVACOD), Université de 
Poitiers, 86073 Poitiers, France; Service de Génétique Clinique, Centre 
Hospitalier Universitaire de Poitiers, 86021 Poitiers, France.
(11)Assistance Publique-Hôpitaux de Paris, Groupe Hospitalier Pitié-Salpêtrière, 
Département de Génétique, 75013 Paris, France.
(12)Service de Génétique, Centre Hospitalier Universitaire de Nice Hôpital de 
l'Archet 2,151 route Saint Antoine de la Ginestière, 062002 Nice, France.
(13)Center for Human Genetics, University Hospitals Leuven, 3000 Leuven, 
Belgium.
(14)Laboratory for Molecular Diagnosis, Center for Human Genetics, University 
Hospitals Leuven, 3000 Leuven, Belgium.
(15)University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh, 
University of Pittsburgh School of Medicine, Pittsburgh, PA 15224, USA.
(16)Roberts Individualized Medical Genetics Center, Division of Human Genetics, 
The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
(17)Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, 
Philadelphia, PA 19104, USA.
(18)MRC Weatherall Institute of Molecular Medicine, University of Oxford, John 
Radcliffe Hospital, Oxford OX3 9DS, UK.
(19)MRC Weatherall Institute of Molecular Medicine, University of Oxford, John 
Radcliffe Hospital, Oxford OX3 9DS, UK; Clinical Genetics Service, Nottingham 
University Hospitals NHS Trust, City Hospital Campus, Nottingham NG5 1PB, UK.
(20)Clinical Genetics Service, Nottingham University Hospitals NHS Trust, City 
Hospital Campus, Nottingham NG5 1PB, UK.
(21)Wessex Clinical Genetics Services, University Hospital Southampton NHS 
Foundation Trust, Southampton SO16 5YA, UK.
(22)GeneDx, Gaithersburg, MD 20877, USA.
(23)Division of Medical Genetics, Department of Pediatrics, Duke University, 
Durham, NC 27707, USA.
(24)Service de Génétique, Génomique, et Procréation, Centre Hospitalier 
Universitaire Grenoble Alpes, 38700 La Tronche, France; INSERM 1209, CNRS UMR 
5309, Institute for Advanced Biosciences, Université Grenoble Alpes, 38706 
Grenoble, France.
(25)Section of Genetics, Department of Pediatrics, University of Colorado School 
of Medicine and Children's Hospital Colorado, Aurora, CO 80045, USA.
(26)Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, 
1000 Ljubljana, Slovenia.
(27)Centre Hospitalier Universitaire Nantes, Service de Génétique Médicale, 
44000 Nantes, France.
(28)Centre Hospitalier Universitaire Nantes, Service de Génétique Médicale, 
44000 Nantes, France; Université de Nantes, CNRS, INSERM, L'Institut du Thorax, 
44000 Nantes, France.
(29)Service de Cytogénétique, Centre Hospitalier Universitaire de Le Mans, 72037 
Le Mans, France.
(30)Department of Surgery, Division of Orthopaedic Surgery, The Children's 
Hospital of Philadelphia, Philadelphia, PA 19104, USA. Electronic address: 
lefebvrev1@email.chop.edu.
(31)Centre Hospitalier Universitaire Nantes, Service de Génétique Médicale, 
44000 Nantes, France; Centre Hospitalier Universitaire Toulouse, Service de 
Génétique Médicale, 31000 Toulouse, France. Electronic address: 
lecaignec.c@chu-toulouse.fr.