第一单位：
Translational Genomics Research Institute, Neurogenomics Division, Phoenix, AZ 85004, USA; Translational Genomics Research Institute's Center for Rare Childhood Disorders, Phoenix, AZ 85012, USA. Electronic address: cbalak@ucsd.edu.
作者：
Chris,Balak [1]
;
Marianne,Benard [2]
;
Elise,Schaefer [3]
;
Sumaiya,Iqbal [4]
;
Keri,Ramsey [5]
;
Michèle,Ernoult-Lange [2]
;
Francesca,Mattioli [6]
;
Lorida,Llaci [5]
;
Véronique,Geoffroy [7]
;
Maité,Courel [2]
;
Marcus,Naymik [5]
;
Kristine K,Bachman [8]
;
Rolph,Pfundt [9]
;
Patrick,Rump [10]
;
Johanna,Ter Beest [9]
;
Ingrid M,Wentzensen [11]
;
Kristin G,Monaghan [11]
;
Kirsty,McWalter [11]
;
Ryan,Richholt [12]
;
Antony,Le Béchec [13]
;
Wayne,Jepsen [5]
;
Matt,De Both [5]
;
Newell,Belnap [14]
;
Anne,Boland [15]
;
Ignazio S,Piras [5]
;
Jean-François,Deleuze [15]
;
Szabolcs,Szelinger [5]
;
Hélène,Dollfus [3]
;
Jamel,Chelly [16]
;
Jean,Muller [17]
;
Arthur,Campbell [4]
;
Dennis,Lal [18]
;
Sampathkumar,Rangasamy [5]
;
Jean-Louis,Mandel [19]
;
Vinodh,Narayanan [5]
;
Matt,Huentelman [5]
;
Dominique,Weil [2]
;
Amélie,Piton [20]
作者单位：
Translational Genomics Research Institute, Neurogenomics Division, Phoenix, AZ 85004, USA; Translational Genomics Research Institute's Center for Rare Childhood Disorders, Phoenix, AZ 85012, USA. Electronic address: cbalak@ucsd.edu.
[1]
Sorbonne Université, CNRS, Institut de Biologie Paris-Seine, Laboratoire de Biologie du Développement, F-75005 Paris, France.
[2]
Medical Genetics Department, University Hospitals of Strasbourg, the Institute of Medical Genetics of Alsace, 67000 Strasbourg, France; Laboratoire de Génétique Médicale, Institut de Génétique Médicale d'Alsace, INSERM U1112, Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, 67081 Strasbourg, France.
[3]
Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA.
[4]
Translational Genomics Research Institute, Neurogenomics Division, Phoenix, AZ 85004, USA; Translational Genomics Research Institute's Center for Rare Childhood Disorders, Phoenix, AZ 85012, USA.
[5]
Institute of Genetics and Molecular and Cellular Biology, Illkirch, France; French National Center for Scientific Research, UMR7104, 67400 Illkirch, France; National Institute of Health and Medical Research U964, 67400 Illkirch, France; University of Strasbourg, 67081 Illkirch, France.
[6]
Laboratoire de Génétique Médicale, Institut de Génétique Médicale d'Alsace, INSERM U1112, Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, 67081 Strasbourg, France.
[7]
Geisinger Medical Center, Dansville, PA 17822, USA.
[8]
Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, the Netherlands.
[9]
Radboud University Nijmegen Medical Center, Department of Human Genetics, Division of Genome Diagnostics, 6525 GA Nijmegen, the Netherlands.
[10]
GeneDx, Gaithersburg, MD 20877, USA.
[11]
Translational Genomics Research Institute, Neurogenomics Division, Phoenix, AZ 85004, USA.
[12]
Medical Bioinformatics Unit, UF7363, Strasbourg University Hospital, 67000 Strasbourg, France.
[13]
Translational Genomics Research Institute's Center for Rare Childhood Disorders, Phoenix, AZ 85012, USA.
[14]
Centre National de Recherche en Génomique Humaine, Institut de Biologie François Jacob, CEA, Université Paris-Saclay, F-91057, Evry, France.
[15]
Institute of Genetics and Molecular and Cellular Biology, Illkirch, France; French National Center for Scientific Research, UMR7104, 67400 Illkirch, France; National Institute of Health and Medical Research U964, 67400 Illkirch, France; University of Strasbourg, 67081 Illkirch, France; Molecular Genetics Unit, Strasbourg University Hospital, 67000 Strasbourg, France.
[16]
Laboratoire de Génétique Médicale, Institut de Génétique Médicale d'Alsace, INSERM U1112, Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, 67081 Strasbourg, France; Molecular Genetics Unit, Strasbourg University Hospital, 67000 Strasbourg, France.
[17]
Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH 44195, USA; Genomic Medicine Institute, Lerner Research Institute Cleveland Clinic, Cleveland, OH 44195, USA; Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany.
[18]
Institute of Genetics and Molecular and Cellular Biology, Illkirch, France; French National Center for Scientific Research, UMR7104, 67400 Illkirch, France; National Institute of Health and Medical Research U964, 67400 Illkirch, France; University of Strasbourg, 67081 Illkirch, France; University of Strasbourg Institute of Advanced Studies, 67081 Strasbourg, France.
[19]
Institute of Genetics and Molecular and Cellular Biology, Illkirch, France; French National Center for Scientific Research, UMR7104, 67400 Illkirch, France; National Institute of Health and Medical Research U964, 67400 Illkirch, France; University of Strasbourg, 67081 Illkirch, France; Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH 44195, USA. Electronic address: piton@igbmc.fr.
[20]
DOI
10.1016/j.ajhg.2019.07.010
PMID
31422817
发布时间
2023-10-13
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