第一单位：
Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA; Bioinformatics and Genomics Graduate program, Pennsylvania State University, University Park, PA 16802, USA.
作者：
Corrine,Smolen [1]
;
Matthew,Jensen [1]
;
Lisa,Dyer [2]
;
Lucilla,Pizzo [3]
;
Anastasia,Tyryshkina [4]
;
Deepro,Banerjee [1]
;
Laura,Rohan [3]
;
Emily,Huber [3]
;
Laila,El Khattabi [5]
;
Paolo,Prontera [6]
;
Jean-Hubert,Caberg [7]
;
Anke,Van Dijck [8]
;
Charles,Schwartz [9]
;
Laurence,Faivre [10]
;
Patrick,Callier [10]
;
Anne-Laure,Mosca-Boidron [11]
;
Mathilde,Lefebvre [12]
;
Kate,Pope [13]
;
Penny,Snell [13]
;
Paul J,Lockhart [14]
;
Lucia,Castiglia [15]
;
Ornella,Galesi [15]
;
Emanuela,Avola [15]
;
Teresa,Mattina [16]
;
Marco,Fichera [17]
;
Giuseppa Maria,Luana Mandarà [18]
;
Maria Grazia,Bruccheri [15]
;
Olivier,Pichon [19]
;
Cedric,Le Caignec [20]
;
Radka,Stoeva [21]
;
Silvestre,Cuinat [19]
;
Sandra,Mercier [19]
;
Claire,Bénéteau [19]
;
Sophie,Blesson [22]
;
Ashley,Nordsletten [23]
;
Dominique,Martin-Coignard [22]
;
Erik,Sistermans [24]
;
R Frank,Kooy [8]
;
David J,Amor [25]
;
Corrado,Romano [26]
;
Bertrand,Isidor [19]
;
Jane,Juusola [2]
;
Santhosh,Girirajan [27]
作者单位：
Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA; Bioinformatics and Genomics Graduate program, Pennsylvania State University, University Park, PA 16802, USA.
[1]
GeneDx, Gaithersburg, MD 20877, USA.
[2]
Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.
[3]
Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA; Neuroscience Graduate Program, Pennsylvania State University, University Park, PA 16802, USA.
[4]
Assistance Publique-Hôpitaux de Paris, Department of Medical Genetics, Armand Trousseau and Pitié-Salpêtrière Hospitals, Paris, France.
[5]
Medical Genetics Unit, Hospital "Santa Maria della Misericordia", Perugia, Italy.
[6]
Centre Hospitalier Universitaire de Liège. Domaine Universitaire du Sart Tilman, Liège, Belgium.
[7]
Department of Medical Genetics, University and University Hospital Antwerp, Antwerp, Belgium.
[8]
Greenwood Genetic Center, Greenwood, SC 29646, USA.
[9]
Centre de Genetique et Cenre de Référence Anomalies du développement et syndromes malformatifs, Hôpital d'Enfants, CHU Dijon, Dijon, France; GAD INSERM UMR1231, FHU TRANSLAD, Université de Bourgogne Franche Comté, Dijon, France.
[10]
Laboratoire de Genetique Chromosomique et Moleculaire, CHU Dijon, Dijon, France.
[11]
GAD INSERM UMR1231, FHU TRANSLAD, Université de Bourgogne Franche Comté, Dijon, France.
[12]
Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.
[13]
Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia; Bruce Lefroy Center, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
[14]
Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, 94018 Troina, Italy.
[15]
Medical Genetics, Department of Biomedical and Biotechnological Sciences, University of Catania, 95123 Catania, Italy.
[16]
Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, 94018 Troina, Italy; Medical Genetics, Department of Biomedical and Biotechnological Sciences, University of Catania, 95123 Catania, Italy.
[17]
Medical Genetics, ASP Ragusa, Ragusa, Italy.
[18]
CHU Nantes, Department of Medical Genetics, Nantes, France.
[19]
CHU Toulouse, Department of Medical Genetics, Toulouse, France; ToNIC, Toulouse Neuro Imaging, Center, Inserm, UPS, Université de Toulouse, Toulouse, France.
[20]
Service de Cytogenetique, CHU de Le Mans, Le Mans, France.
[21]
Department of Genetics, Bretonneau University Hospital, Tours, France.
[22]
Department of Psychiatry, University of Michigan, Ann Arbor, MI, USA.
[23]
Department of Clinical Genetics, Amsterdam UMC, Amsterdam, the Netherlands.
[24]
Bruce Lefroy Center, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
[25]
Medical Genetics, Department of Biomedical and Biotechnological Sciences, University of Catania, 95123 Catania, Italy; Medical Genetics, ASP Ragusa, Ragusa, Italy.
[26]
Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA; Bioinformatics and Genomics Graduate program, Pennsylvania State University, University Park, PA 16802, USA; Neuroscience Graduate Program, Pennsylvania State University, University Park, PA 16802, USA; Department of Anthropology, Pennsylvania State University, University Park, PA 16802, USA. Electronic address: sxg47@psu.edu.
[27]
DOI
10.1016/j.ajhg.2023.10.015
PMID
37979581
发布时间
2024-07-25
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