第一单位：
Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
作者：
Matthew A,Lines [1]
;
Paula,Goldenberg [2]
;
Ashley,Wong [2]
;
Siddharth,Srivastava [3]
;
Allan,Bayat [4]
;
Hanne,Hove [5]
;
Helena Gásdal,Karstensen [6]
;
Kwame,Anyane-Yeboa [7]
;
Jun,Liao [8]
;
Nan,Jiang [8]
;
Alison,May [9]
;
Edwin,Guzman [10]
;
Manuela,Morleo [11]
;
Stefano,D'Arrigo [12]
;
Claudia,Ciaccio [12]
;
Chiara,Pantaleoni [12]
;
Raffaele,Castello [13]
;
TUDP Study Group [13]
;
Shane,McKee [14]
;
Jinfon,Ong [15]
;
Hana,Zibdeh-Lough [16]
;
Frederic,Tran-Mau-Them [17]
;
Anna,Gerasimenko [18]
;
Delphine,Heron [18]
;
Boris,Keren [18]
;
Henri,Margot [19]
;
Jean-Madeleine,de Sainte Agathe [18]
;
Lydie,Burglen [20]
;
Thomas,Voets [21]
;
Joris,Vriens [22]
;
A Micheil,Innes [1]
;
David A,Dyment [23]
作者单位：
Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
[1]
Medical Genetics Unit, Department of Pediatrics, MassGeneral Hospital for Children, Boston, Massachusetts, USA.
[2]
Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
[3]
Department of Epilepsy Genetics and Personalized Medicine, Filadelfia Epilepsy Hospital, Dianalund, Denmark.;Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.
[4]
Department of Pediatrics, Center of Rare Diseases, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.
[5]
Department of Genetics, Center of Diagnostics, Copenhagen University Hospital - Rigshospitalet, Rigshospitalet, Denmark.
[6]
Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, New York, USA.
[7]
Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, New York, USA.
[8]
Division of Child Neurology, Department of Neurology, Columbia University Irving Medical Center, New York, New York, USA.
[9]
Division of Clinical Genetics, Department of Pediatrics, New York Presbyterian Hospital, Columbia University, New York, New York, USA.
[10]
Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.;Department of Precision Medicine, University of Campania "Luigi Vanvitelli", Naples, Italy.
[11]
Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
[12]
Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.
[13]
Northern Ireland Regional Genetics Service, Belfast, UK.
[14]
Child Neurology Consultants of Austin, Austin, Texas, USA.
[15]
Department of Pediatrics, Dell Children's Medical Center of Central Texas, Austin, Texas, USA.
[16]
UF6254 Innovation en Diagnostic Genomique des Maladies Rares, Dijon, France.
[17]
APHP Sorbonne Université, GH Pitié Salpêtriére et Trousseau, Département de Génétique, Centre de référence "déficiences intellectuelles de causes rares", Paris, France.
[18]
Universitie Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France.
[19]
APHP, Sorbonne Université, Hôpital TROUSSEAU, Centre de Référence des Malformations et Maladies Congénitales du Cervelet et Département de Génétique, Paris, France.
[20]
Laboratory of Ion Channel Research and TRP Research Platform Leuven (TRPLe), Department of Cellular and Molecular Medicine, University of Leuven, Leuven, Belgium.;VIB Center for Brain & Disease Research, Leuven, Belgium.
[21]
Laboratory of Experimental Gynecology and Obstetrics, Department of Development and Regeneration, University of Leuven, Leuven, Belgium.
[22]
Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.
[23]
DOI
10.1002/ajmg.a.62673
PMID
35146895
发布时间
2022-12-07
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