换一批Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling
作者：
Blok, Lot Snijders [1]
;
Madsen, Erik [2]
;
Juusola, Jane [3]
;
Gilissen, Christian [4]
;
Baralle, Diana [5]
;
Reijnders, Margot R. F. [6]
;
Venselaar, Hanka [7]
;
Helsmoorte, Celine [8]
;
Cho, Megan T. [9]
;
Hoischen, Alexander [10]
;
Vissers, Lisenka E. L. M. [11]
;
Koemans, Tom S. [12]
;
Wissink-Lindhout, Willemijn [13]
;
Eichler, Evan E. [14]
;
Romano, Corrado [15]
;
Van Esch, Hilde [16]
;
Stumpel, Connie [17]
;
Vreeburg, Maaike [18]
;
Smeets, Eric [19]
;
Obemdorff, Karin [20]
;
van Bon, Bregje W. M. [21]
;
Shaw, Marie [22]
;
Gecz, Jozef [23]
;
Haan, Eric [24]
;
Bienek, Melanie [25]
;
Jensen, Corinna [26]
;
Loeys, Bart L. [27]
;
Van Diick, Anke [28]
;
Innes, A. Micheil [29]
;
Racher, Hilary [30]
;
Vermeer, Sascha [31]
;
Di Donato, Nataliya [32]
;
Rump, Andreas [33]
;
Tatton-Brown, Katrina [34]
;
Parker, Michael J. [35]
;
Henderson, Alex [36]
;
Lynch, Sally A. [37]
;
Fryer, Alan [38]
;
Ross, Alison [39]
;
Vasudevan, Pradeep [40]
;
Kini, Usha [41]
;
Newbury-Ecob, Ruth [42]
;
Chandler, Kate [43]
;
Male, Alison [44]
;
Dijkstra, Sybe [45]
;
Schieving, Jolanda [46]
;
Giltay, Jacques ;
Van Gassen, Koen L. I. ;
Schuurs-Hoeijmakers, Janneke ;
Tan, Perciliz L. ;
Pediaditakis, Igor ;
Haas, Stefan A. ;
Retterer, Kyle ;
Reed, Patrick ;
Monaghan, Kristin G. ;
Haverfield, Eden ;
Natowicz, Marvin ;
Myers, Angela ;
Kruer, Michael C. ;
Stein, Quinn ;
Strauss, Kevin A. ;
Brigatti, Karlla W. ;
Keating, Katherine ;
Burton, Barbara K. ;
Kim, Katherine H. ;
Charrow, Joel ;
Norman, Jennifer ;
Foster-Barber, Audrey ;
Kline, Antonie D. ;
Kimball, Amy ;
Zackai, Elaine ;
Harr, Margaret ;
Fox, Joyce ;
McLaughlin, Julie ;
Lindstrom, Kristin ;
Haude, Katrina M. ;
van Roozendaa, Kees ;
Brunner, Han ;
Chung, Wendy K. ;
Kooy, R. Frank ;
Pfundt, Rolph ;
Kalscheuer, Vera ;
Mehta, Sarju G. ;
Katsanis, Nicholas ;
Kleefstra, Tjitske
作者单位：
Duke Univ, Med Ctr, Dept Cell Biol, Ctr Human Dis Modeling, Durham, NC 27710 USA
[1]
Ann & Robert H Lurie Childrens Hosp Chicago, Div Genet Birth Defects & Metab, Chicago, IL 60611 USA
[2]
Integris Pediat Neurol, Oklahoma City, OK 73112 USA
[3]
Phoenix Childrens Hosp, Div Genet & Metab, Phoenix, AZ 85006 USA
[4]
Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9700 RB Groningen, Netherlands
[5]
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands
[6]
Addenbrookes Hosp, Cambridge Univ Hosp NHS Fdn Trust, East Anglian Reg Genet Serv, Cambridge CB2
[7]
Maastricht UMC, Sch Oncol & Dev Biol GROW, NL-6202 AZ Maastricht, Netherlands
[8]
Maastricht UMC, Dept Clin Genet, NL-6202 AZ Maastricht, Netherlands
[9]
Cohen Childrens Med Ctr, Div Med Genet, New Hyde Pk, NY 11040 USA
[10]
Univ Rochester, Med Ctr, Rochester, NY 14642 USA
[11]
Radboud Univ Nijmegen, Med Ctr, Dept Child Neurol, NL-6500 HB Nijmegen, Netherlands
[12]
Childrens Hosp Philadelphia, Div Human Genet, Dept Pediat, Philadelphia, PA 19104 USA
[13]
Columbia Univ, Med Ctr, Dept Pediat, New York, NY 10032 USA
[14]
Max Planck Inst Mol Genet, Dept Human Genet, D-14195 Berlin, Germany
[15]
Newcastle Upon Tyne Hosp NHS Fdn Trust, Northem Genet Serv, Newcastle Upon Tyne NE1 3BZ, Tyne &
[16]
Great Ormond St Hosp Sick Children, North East Thames Reg Genet Serv, London WC1N 3JH, England
[17]
IRCCS Assoc Oasi Maria Santissima, Pediat & Med Genet, I-94018 Troina, Italy
[18]
Benioff Childrens Hosp, Child Neurol & Palliat Care, San Francisco, CA 94925 USA
[19]
Temple St Childrens Hosp, Natl Ctr Med Genet, Dublin 12, Ireland
[20]
Org People Intellectual Disabil, ORO, NL-5751 PH Deurne, Netherlands
[21]
Univ London St Georges Hosp, London SW17 0RE, England
[22]
Atrium Orbis Med Ctr, Dept Pediat, NL-6162 BG Sittard, Netherlands
[23]
Cleveland Clin, Pathol & Lab Med & Genom Med Inst, Cleveland, OH 44195 USA
[24]
Univ Calgary, Cumming Sch Med, Dept Med Genet, Calgary, AB T2N 4N1, Canada
[25]
Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA
[26]
Carl Gustav Carus TU Dresden, Fac Med, D-01307 Dresden, Germany
[27]
Franklin & Marshall Coll, Clin Special Children, Lancaster, PA 17604 USA
[28]
Univ Antwerp, Dept Med Genet, B-2650 Antwerp, Belgium
[29]
Liverpool Womens Hosp, Dept Clin Genet, Liverpool L8 7SS, Merseyside, England
[30]
Univ Hosp Leuven, Ctr Human Genet, B-3000 Leuven, Belgium
[31]
GeneDx, Gaithersburg, MD 20877 USA
[32]
Oxford Univ Hosp NHS Trust, Dept Clin Genet, Oxford OX3 7LE, England
[33]
Univ Southampton, Fac Med, Human Dev & Hlth, Southampton SO16 6YD, Hants, England
[34]
St Marys Hosp, MAHSC, Manchester Ctr Genom Med, Manchester M13 9WL, Lancs, England
[35]
Clin Genet Ctr, North Scotland Reg Genet Serv, Aberdeen AB25 2ZA, Scotland
[36]
Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mol Life Sci, Nijmegen Ctr Mol & Biomol Informat, NL
[37]
Univ Med Ctr Utrecht, Dept Med Genet, NL-3508 AB Utrecht, Netherlands
[38]
Sheffield Childrens Hosp, Sheffield Clin Genet Serv, Sheffield S10 2TH, S Yorkshire, England
[39]
Phoenix Childrens Hosp, Barrow Neurol Inst, Phoenix, AZ USA
[40]
Max Planck Inst Mol Genet, Dept Computat Mol Biol, D-14195 Berlin, Germany
[41]
Leicester Royal Infirm, Univ Hosp Leicester, Dept Clin Genet, Leicester LE1 5WW, Leics, England
[42]
Sanford Childrens Specialty Clin, Sioux Falls, SD 57105 USA
[43]
Greater Baltimore Med Ctr, Harvey Inst Human Genet, Baltimore, MD 21204 USA
[44]
Univ Adelaide, Sch Paediat & Reprod Hlth, Adelaide, SA 5006, Australia
[45]
Univ Hosp, Dept Clin Genet, Bristol BS1 3NU, Avon, England
[46]
发布时间
2015-09-26
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The American Journal of Human Genetics
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