换一批Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus
第一作者：
Beunders,G.
作者：
Beunders,G. [1]
;
Voorhoeve,E. [2]
;
Golzio,C. [3]
;
Pardo,L.M. [4]
;
Rosenfeld,J.A. [5]
;
Talkowski,M.E. [6]
;
Simonic,I. [7]
;
Lionel,A.C. [8]
;
Vergult,S. [9]
;
Pyatt,R.E. [10]
;
VanDeKamp,J. [11]
;
Nieuwint,A. [12]
;
Weiss,M.M. [13]
;
Rizzu,P. [14]
;
Verwer,L.E.N.I. [15]
;
VanSpaendonk,R.M.L. [16]
;
Shen,Y. [17]
;
Wu,B.-L. [18]
;
Yu,T. [19]
;
Yu,Y. [20]
;
Chiang,C. [21]
;
Gusella,J.F. [22]
;
Lindgren,A.M. [23]
;
Morton,C.C. [24]
;
VanBinsbergen,E. [25]
;
Bulk,S. [26]
;
VanRossem,E. [27]
;
Vanakker,O. [28]
;
Armstrong,R. ;
Park,S.-M. ;
Greenhalgh,L. ;
Maye,U. ;
Neill,N.J. ;
Abbott,K.M. ;
Sell,S. ;
Ladda,R. ;
Farber,D.M. ;
Bader,P.I. ;
Cushing,T. ;
Drautz,J.M. ;
Konczal,L. ;
Nash,P. ;
DeLosReyes,E. ;
Carter,M.T. ;
Hopkins,E. ;
Marshall,C.R. ;
Osborne,L.R. ;
Gripp,K.W. ;
Thrush,D.L. ;
Hashimoto,S. ;
Gastier-Foster,J.M. ;
Astbury,C. ;
Ylstra,B. ;
Meijers-Heijboer,H. ;
Posthuma,D. ;
Menten,B. ;
Mortier,G. ;
Scherer,S.W. ;
Eichler,E.E. ;
Girirajan,S. ;
Katsanis,N. ;
Groffen,A.J. ;
Sistermans,E.A.
作者单位：
Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH 43205, United
[1]
Center for Medical Genetics, University Hospital Ghent, Ghent 9000, Belgium
[2]
Department of Genome Sciences, Howard Hughes Medical Institute, University of Washington, Seattle
[3]
Clinical Genetics, Royal Liverpool Children's Hospital, Eaton Road, Alder Hey, Liverpool L12 2AP
[4]
East Anglian Medical Genetics Service, Addenbrooke's Hospital, Cambridge University Hospitals
[5]
Department of Laboratory Medicine, Boston Children's Hospital, Boston, MA 02114, United States
[6]
Program in Medical and Population Genetics, Broad Institute, Cambridge, MA 02142, United States
[7]
Onze-Lieve-Vrouwe Ziekenhuis, Aalst 9300, Belgium
[8]
Department of Medical Genetics, Antwerp University, Edegem 2650, Belgium
[9]
Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH 43205, United States
[10]
Department of Neurology, University of Louisville, Louisville, KY 40222, United States
[11]
Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, ON M5G 1X8, Canada
[12]
Centre for Applied Genomics, Program in Genetics and Genome Biology, Hospital for Sick Children
[13]
Department of Pediatrics and Neurology, Ohio State University, Columbus, OH 43210, United States
[14]
Penn State Milton S. Hershey Medical Center, Hershey, PA 17033, United States
[15]
University Hospitals, Case Western Reserve University, Cleveland, OH 44106, United States
[16]
Division of Medical Genetics, Alfred I. DuPont Hospital for Children, Wilmington, DE 19803, United
[17]
Department of Clinical Genetics, VU University Medical Center, Amsterdam 1007 MB, Netherlands
[18]
Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115, United States, Department
[19]
Departments of Medicine and Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada
[20]
Massachusetts General Hospital, Departments of Genetics and Neurology, Harvard University, Boston
[21]
Northeast Indiana Genetic Counseling Center, Ft. Wayne, IN 46804, United States
[22]
Department of Medical Genetics, University Medical Center Utrecht, Utrecht 3508 AB, Netherlands
[23]
Pediatric Genetics Division, Department of Pediatrics, University of New Mexico, Albuquerque, NM
[24]
Center for Human Disease Modeling, Department of Cell Biology, Duke University Medical Center
[25]
Department of Pathology, VU University Medical Center, Amsterdam 1007 MB, Netherlands
[26]
Department of Behavioral Pediatrics, Nationwide Children's Hospital, Columbus, OH 43205, United
[27]
Signature Genomic Laboratories, Perkin Elmer, Spokane, WA 99207, United States
[28]
发布时间
2013-11-20
- 浏览1
The American Journal of Human Genetics
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