第一单位：
Department of Clinical Genetics, Maastricht University Medical Center+, azM, Maastricht, 6202 AZ, The Netherlands. s.frints@mumc.nl.;Department of Genetics and Cell Biology, School for Oncology and Developmental Biology, GROW, FHML, Maastricht University, Maastricht, 6200 MD, The Netherlands. s.frints@mumc.nl.
作者：
Suzanna G M,Frints [1]
;
Aysegul,Ozanturk [2]
;
Germán,Rodríguez Criado [3]
;
Ute,Grasshoff [4]
;
Bas,de Hoon [5]
;
Michael,Field [6]
;
Sylvie,Manouvrier-Hanu [7]
;
Scott,E Hickey [8]
;
Molka,Kammoun [9]
;
Karen W,Gripp [10]
;
Claudia,Bauer [4]
;
Christopher,Schroeder [4]
;
Annick,Toutain [11]
;
Theresa,Mihalic Mosher [12]
;
Benjamin J,Kelly [13]
;
Peter,White [14]
;
Andreas,Dufke [4]
;
Eveline,Rentmeester [15]
;
Sungjin,Moon [2]
;
Daniel C,Koboldt [14]
;
Kees E P,van Roozendaal [16]
;
Hao,Hu [17]
;
Stefan A,Haas [18]
;
Hans-Hilger,Ropers [17]
;
Lucinda,Murray [6]
;
Eric,Haan [19]
;
Marie,Shaw [20]
;
Renee,Carroll [20]
;
Kathryn,Friend [21]
;
Jan,Liebelt [22]
;
Lynne,Hobson [21]
;
Marjan,De Rademaeker [23]
;
Joep,Geraedts [16]
;
Jean-Pierre,Fryns [9]
;
Joris,Vermeesch [9]
;
Martine,Raynaud [11]
;
Olaf,Riess [4]
;
Joost,Gribnau [15]
;
Nicholas,Katsanis [2]
;
Koen,Devriendt [9]
;
Peter,Bauer [4]
;
Jozef,Gecz [24]
;
Christelle,Golzio [25]
;
Cristina,Gontan [15]
;
Vera M,Kalscheuer [26]
作者单位：
Department of Clinical Genetics, Maastricht University Medical Center+, azM, Maastricht, 6202 AZ, The Netherlands. s.frints@mumc.nl.;Department of Genetics and Cell Biology, School for Oncology and Developmental Biology, GROW, FHML, Maastricht University, Maastricht, 6200 MD, The Netherlands. s.frints@mumc.nl.
[1]
Center for Human Disease Modeling and Departments of Pediatrics and Psychiatry, Duke University, Durham, NC, 27710, USA.
[2]
Unidad de Genética Clínica, Hospital Virgen del Rocío, Sevilla, 41920, Spain.
[3]
Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, 72076, Germany.
[4]
Department of Developmental Biology, Erasmus University Medical Center, Rotterdam, 3015 CN, Rotterdam, The Netherlands.;Department of Gynaecology and Obstetrics, Erasmus University Medical Center, Rotterdam, 3015 CN, The Netherlands.
[5]
GOLD (Genetics of Learning and Disability) Service, Hunter Genetics, Waratah, NSW, 2298, Australia.
[6]
Clinique de Génétique médicale Guy Fontaine, Centre de référence maladies rares Anomalies du développement Hôpital Jeanne de Flandre, Lille, 59000, France.;EA 7364 RADEME Maladies Rares du Développement et du Métabolisme, Faculté de Médecine, Université de Lille, Lille, 59000, France.
[7]
Division of Molecular & Human Genetics, Nationwide Children's Hospital, Columbus, OH, 43205, USA.;Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, 43205, USA.
[8]
Center for Human Genetics, University Hospitals Leuven, Leuven, 3000, Belgium.
[9]
Alfred I. duPont Hospital for Children Nemours, Wilmington, DE, 19803, USA.
[10]
Service de Génétique, Hôpital Bretonneau, CHU de Tours, Tours, 37044, France.;UMR 1253, iBrain, Université de Tours, Inserm, Tours, 37032, France.
[11]
Division of Molecular & Human Genetics, Nationwide Children's Hospital, Columbus, OH, 43205, USA.;Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, 43205, USA.;The Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, 43205, USA.
[12]
The Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, 43205, USA.
[13]
Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, 43205, USA.;The Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, 43205, USA.
[14]
Department of Developmental Biology, Erasmus University Medical Center, Rotterdam, 3015 CN, Rotterdam, The Netherlands.
[15]
Department of Clinical Genetics, Maastricht University Medical Center+, azM, Maastricht, 6202 AZ, The Netherlands.;Department of Genetics and Cell Biology, School for Oncology and Developmental Biology, GROW, FHML, Maastricht University, Maastricht, 6200 MD, The Netherlands.
[16]
Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, 14195, Germany.
[17]
Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin, 14195, Germany.
[18]
Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5000, Australia.;South Australian Clinical Genetics Service, SA Pathology (at Women's and Children's Hospital), North Adelaide, SA, 5006, Australia.
[19]
Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5000, Australia.
[20]
Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, 5006, Australia.
[21]
South Australian Clinical Genetics Service, SA Pathology (at Women's and Children's Hospital), North Adelaide, SA, 5006, Australia.
[22]
Centre for Medical Genetics, Reproduction and Genetics, Reproduction Genetics and Regenerative Medicine, Vrije Universiteit Brussel (VUB), UZ Brussel, 1090, Brussels, Belgium.
[23]
Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5000, Australia.;South Australian Health and Medical Research Institute, Adelaide, SA, 5000, Australia.
[24]
Center for Human Disease Modeling and Departments of Pediatrics and Psychiatry, Duke University, Durham, NC, 27710, USA.;Institut de Génétique et de Biologie Moléculaire et Cellulaire, Department of Translational Medicine and Neurogenetics; Centre National de la Recherche Scientifique, UMR7104; Institut National de la Santé et de la Recherche Médicale, U964, Université de Strasbourg, 67400, Illkirch, France.
[25]
Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, 14195, Germany. kalscheu@molgen.mpg.de.
[26]
DOI
10.1038/s41380-018-0065-x
PMID
29728705
发布时间
2025-01-03
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