作者：
Andrea,Accogli [1]
;
Sara,Calabretta [2]
;
Judith,St-Onge [3]
;
Nassima,Boudrahem-Addour [3]
;
Alexandre,Dionne-Laporte [4]
;
Pascal,Joset [5]
;
Silvia,Azzarello-Burri [5]
;
Anita,Rauch [5]
;
Joel,Krier [6]
;
Elizabeth,Fieg [6]
;
Juan C,Pallais [6]
;
Undiagnosed Diseases Network [7]
;
Allyn,McConkie-Rosell [7]
;
Marie,McDonald [8]
;
Sharon F,Freedman [3]
;
Jean-Baptiste,Rivière [3]
;
Joël,Lafond-Lapalme [9]
;
Brittany N,Simpson [9]
;
Robert J,Hopkin [10]
;
Aurélien,Trimouille [10]
;
Julien,Van-Gils [11]
;
Amber,Begtrup [11]
;
Kirsty,McWalter [12]
;
Heron,Delphine [12]
;
Boris,Keren [13]
;
David,Genevieve [14]
;
Emanuela,Argilli [14]
;
Elliott H,Sherr [15]
;
Mariasavina,Severino [16]
;
Guy A,Rouleau [2]
;
Patricia T,Yam [17]
;
Frédéric,Charron [18]
;
Myriam,Srour
作者单位：
Department of Pediatrics, Division of Pediatric Neurology, McGill University, H4A 3J1, Montreal, QC, Canada; Medical Genetics Unit, IRCCS Ospedale Policlinico San Martino, 16132 Genova, Italy; Dipartimento di Neuroscienze, Reabilitazione, Oftalmologia, Genetica e Scienze Materno-Infantili, Università degli Studi di Genova, 16132 Genova Italy.
[1]
Montreal Clinical Research Institute, H2W 1R7 Montreal, QC, Canada.
[2]
McGill University Health Center Research Institute, H4A 3J1, Montreal, QC, Canada.
[3]
Montreal Neurological Institute, McGill University, H3A 2B4, Montreal, QC, Canada.
[4]
Institute of Medical Genetics, University of Zurich, CH-8952 Schlieren, Switzerland.
[5]
Brigham and Women's Hospital, Boston, MA 02115, USA.
[6]
Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, NC 27707, USA.
[7]
Department of Ophthalmology, Duke University Medical Center, Durham, NC 27710, USA.
[8]
Division of Human Genetics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA.
[9]
Centre Hospitalier Universitaire Bordeaux, Service de Génétique Médicale, 33076 Bordeaux, France; Laboratoire Maladies Rares: Génétique et Métabolisme, Inserm U1211, Université de Bordeaux, 33076 Bordeaux, France.
[10]
GeneDx, Gaithersburg, MD 20877, USA.
[11]
Département de Génétique, Centre de Référence des Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75013 Paris.
[12]
Département de Genetique Médicale, Maladies Rares et Médecine Personnalisée, Centre de Référence Anomalies du Développement, Université Montpellier, Unité Inserm U1183, Centre Hospitalier Universitaire Montpellier, 34000 Montpellier, France.
[13]
Departments of Neurology and Pediatrics, Weill Institute of Neuroscience and Institute of Human Genetics, University of California, CA 94143 San Francisco.
[14]
Istituto di Ricovero e Cura a Carattere Scientifico, Istituto Giannina Gaslini, 16147 Genova, Italy.
[15]
Montreal Neurological Institute, McGill University, H3A 2B4, Montreal, QC, Canada; Department of Neurology and Neurosurgery, McGill University, H3A 2B4, Montreal, QC, Canada.
[16]
Montreal Clinical Research Institute, H2W 1R7 Montreal, QC, Canada; Department of Medicine, University of Montreal, H3C 3J7, Montreal, QC, Canada; Department of Anatomy and Cell Biology, McGill University, H4A 3J1, Montreal, QC, Canada; Department of Experimental Medicine, McGill University, H4A 3J1, Montreal, QC, Canada. Electronic address: frederic.charron@ircm.qc.ca.
[17]
Department of Pediatrics, Division of Pediatric Neurology, McGill University, H4A 3J1, Montreal, QC, Canada; McGill University Health Center Research Institute, H4A 3J1, Montreal, QC, Canada; Department of Neurology and Neurosurgery, McGill University, H3A 2B4, Montreal, QC, Canada. Electronic address: myriam.srour@mcgill.ca.
[18]
DOI
10.1016/j.ajhg.2019.09.005
PMID
31585109
发布时间
2022-07-16
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