第一单位：
Human Genetics Department, Radboud University Medical Center, PO Box 9101, 6500HB Nijmegen, the Netherlands; Language and Genetics Department, Max Planck Institute for Psycholinguistics, PO Box 310, 6500AH Nijmegen, the Netherlands; Donders Institute for Brain, Cognition, and Behaviour, PO Box 9104, 6500HE Nijmegen, the Netherlands. Electronic address: lot.snijdersblok@radboudumc.nl.
作者：
Lot,Snijders Blok [1]
;
Tjitske,Kleefstra [2]
;
Hanka,Venselaar [3]
;
Saskia,Maas [4]
;
Hester Y,Kroes [5]
;
Augusta M A,Lachmeijer [5]
;
Koen L I,van Gassen [5]
;
Helen V,Firth [6]
;
Susan,Tomkins [7]
;
Simon,Bodek [7]
;
DDD Study [6]
;
Katrin,Õunap [8]
;
Monica H,Wojcik [9]
;
Christopher,Cunniff [10]
;
Katherine,Bergstrom [10]
;
Zoë,Powis [11]
;
Sha,Tang [11]
;
Deepali N,Shinde [11]
;
Catherine,Au [12]
;
Alejandro D,Iglesias [12]
;
Kosuke,Izumi [13]
;
Jacqueline,Leonard [13]
;
Ahmad,Abou Tayoun [14]
;
Samuel W,Baker [14]
;
Marco,Tartaglia [15]
;
Marcello,Niceta [15]
;
Maria Lisa,Dentici [15]
;
Nobuhiko,Okamoto [16]
;
Noriko,Miyake [17]
;
Naomichi,Matsumoto [17]
;
Antonio,Vitobello [18]
;
Laurence,Faivre [19]
;
Christophe,Philippe [18]
;
Christian,Gilissen [20]
;
Laurens,Wiel [21]
;
Rolph,Pfundt [20]
;
Pelagia,Deriziotis [22]
;
Han G,Brunner [23]
;
Simon E,Fisher [24]
作者单位：
Human Genetics Department, Radboud University Medical Center, PO Box 9101, 6500HB Nijmegen, the Netherlands; Language and Genetics Department, Max Planck Institute for Psycholinguistics, PO Box 310, 6500AH Nijmegen, the Netherlands; Donders Institute for Brain, Cognition, and Behaviour, PO Box 9104, 6500HE Nijmegen, the Netherlands. Electronic address: lot.snijdersblok@radboudumc.nl.
[1]
Human Genetics Department, Radboud University Medical Center, PO Box 9101, 6500HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition, and Behaviour, PO Box 9104, 6500HE Nijmegen, the Netherlands.
[2]
Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, PO Box 9101, 6500HB Nijmegen, the Netherlands.
[3]
Amsterdam University Medical Center, University of Amsterdam, Department of Clinical Genetics, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands.
[4]
Department of Genetics, University Medical Center Utrecht, PO Box 85090, 3508AB Utrecht, the Netherlands.
[5]
Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
[6]
Clinical Genetics Service, University Hospitals Bristol National Health Service Foundation Trust, Bristol BS2 8HW, UK.
[7]
Department of Clinical Genetics, United Laboratories, Tartu University Hospital and Institute of Clinical Medicine, University of Tartu, Tartu 51014, Estonia; Institute of Clinical Medicine, University of Tartu, Tartu 51014, Estonia.
[8]
The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Division of Newborn Medicine, Division of Genetics, Boston Children's Hospital, Boston, MA 02115, USA.
[9]
Division of Medical Genetics, Department of Pediatrics, Weill Cornell Medicine, New York, NY 10021, USA.
[10]
Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92656, USA.
[11]
Division of Clinical Genetics, Department of Pediatrics, New York Presbyterian Hospital, Columbia University, New York, NY 10032, USA.
[12]
Division of Human Genetics, the Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
[13]
Division of Genomic Diagnostics, the Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
[14]
Genetics and Rare Diseases Research Division, Bambino Gesù Children Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, 00146 Rome, Italy.
[15]
Department of Medical Genetics, Osaka Women's and Children's Hospital, 840 Murodo-cho, Izumi, Osaka 594-1101, Japan.
[16]
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
[17]
UF Innovation en Diagnostic Génomique des Maladies Rares, Centre Hospitalier Universitaire Dijon Bourgogne, 21000 Dijon, France; INSERM UMR1231 Génétique des Anomalies du Développement, F-21000 Dijon, France.
[18]
INSERM UMR1231 Génétique des Anomalies du Développement, F-21000 Dijon, France; Centre de Référence Maladies Rares « Anomalies du Développement et Syndrome Malformatifs » de l'Est, Centre de Génétique, Hôpital d'Enfants, Fédération Hospitalo-Universitaire Médecine TRANSLationnelle et Anomalies du Développement, Centre Hospitalier Universitaire Dijon Bourgogne, 21000 Dijon, France.
[19]
Human Genetics Department, Radboud University Medical Center, PO Box 9101, 6500HB Nijmegen, the Netherlands.
[20]
Human Genetics Department, Radboud University Medical Center, PO Box 9101, 6500HB Nijmegen, the Netherlands; Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, PO Box 9101, 6500HB Nijmegen, the Netherlands.
[21]
Language and Genetics Department, Max Planck Institute for Psycholinguistics, PO Box 310, 6500AH Nijmegen, the Netherlands.
[22]
Human Genetics Department, Radboud University Medical Center, PO Box 9101, 6500HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition, and Behaviour, PO Box 9104, 6500HE Nijmegen, the Netherlands; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, 6202AZ Maastricht, the Netherlands.
[23]
Language and Genetics Department, Max Planck Institute for Psycholinguistics, PO Box 310, 6500AH Nijmegen, the Netherlands; Donders Institute for Brain, Cognition, and Behaviour, PO Box 9104, 6500HE Nijmegen, the Netherlands. Electronic address: simon.fisher@mpi.nl.
[24]
DOI
10.1016/j.ajhg.2019.06.007
PMID
31303265
发布时间
2024-09-22
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