第一单位：
Murdoch Children's Research Institute, Flemington Road, Parkville, Victoria 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Flemington Road, Parkville, Victoria 3052, Australia.
作者：
David J,Amor [1]
;
Sarah E M,Stephenson [1]
;
Mirna,Mustapha [2]
;
Martin A,Mensah [3]
;
Charlotte W,Ockeloen [4]
;
Wei Shern,Lee [1]
;
Rick M,Tankard [5]
;
Dean G,Phelan [1]
;
Marwan,Shinawi [6]
;
Arjan P M,de Brouwer [7]
;
Rolph,Pfundt [4]
;
Cari,Dowling [8]
;
Tomi L,Toler [6]
;
V Reid,Sutton [9]
;
Emanuele,Agolini [10]
;
Martina,Rinelli [10]
;
Rossella,Capolino [11]
;
Diego,Martinelli [12]
;
Giuseppe,Zampino [13]
;
Miroslav,Dumić [14]
;
William,Reardon [15]
;
Charles,Shaw-Smith [16]
;
Richard J,Leventer [17]
;
Martin B,Delatycki [1]
;
Tjitske,Kleefstra [7]
;
Stefan,Mundlos [3]
;
Geert,Mortier [18]
;
Melanie,Bahlo [5]
;
Nicola J,Allen [8]
;
Paul J,Lockhart [19]
作者单位：
Murdoch Children's Research Institute, Flemington Road, Parkville, Victoria 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Flemington Road, Parkville, Victoria 3052, Australia.
[1]
Department of Otolaryngology-Head and Neck Surgery, Stanford University, Stanford, CA 94305, USA.
[2]
Institut für Medizinische Genetik, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, Berlin 13353, Germany.
[3]
Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands.
[4]
The Walter and Eliza Hall Institute of Medical Research, Royal Parade, Parkville, Victoria 3052, Australia; Department of Medical Biology, University of Melbourne, Parkville, Victoria 3010, Australia.
[5]
Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA.
[6]
Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500HB Nijmegen, The Netherlands.
[7]
Molecular Neurobiology Laboratory, Salk Institute for Biological Studies, 10010 North Torrey Pines Road, La Jolla, CA 92037, USA.
[8]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
[9]
Laboratory of Medical Genetics, Department of Laboratories, IRCCS Bambino Gesù Children's Hospital, Rome 00165, Italy.
[10]
Medical Genetics, Department of Pediatrics, IRCCS Bambino Gesù Children's Hospital, Rome 00165, Italy.
[11]
Division of Metabolism, Department of Pediatric Subspecialties, IRCCS Bambino Gesù Children's Hospital Rome 00165, Italy.
[12]
Center for Rare Disease and Congenital Defects, Fondazione Policlinico Universitario A. Gemelli, Catholic University, Rome 00168, Italy.
[13]
Department of Pediatrics Rebro, University of Zagreb Medical School, Kispaticeva 12, 10 000 Zagreb, Croatia.
[14]
Department of Clinical Genetics, Our Lady's Children Hospital Crumlin, Dublin, D12, V004, Ireland.
[15]
Department of Clinical Genetics, Royal Devon and Exeter National Health Service Foundation Trust, Exeter EX1 2ED, UK.
[16]
Murdoch Children's Research Institute, Flemington Road, Parkville, Victoria 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Flemington Road, Parkville, Victoria 3052, Australia; Department of Neurology, Royal Children's Hospital, Flemington Road, Parkville, Victoria 3052, Australia.
[17]
Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, B-2650 Antwerp (Edegem), Belgium.
[18]
Murdoch Children's Research Institute, Flemington Road, Parkville, Victoria 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Flemington Road, Parkville, Victoria 3052, Australia. Electronic address: paul.lockhart@mcri.edu.au.
[19]
DOI
10.1016/j.ajhg.2019.02.026
PMID
30982611
发布时间
2020-08-24
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