换一批Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies
作者：
Fountain, Michael D. [1]
;
Oleson, David S. [2]
;
Rech, Megan E. [3]
;
Segebrecht, Lara [4]
;
Hunter, Jill, V [5]
;
McCarthy, John M. [6]
;
Lupo, Philip J. [7]
;
Holtgrewe, Manuel [8]
;
Moran, Rocio [9]
;
Rosenfeld, Jill A. [10]
;
Isidor, Bertrand [11]
;
Le Caignec, Cedric [12]
;
Saenz, Margarita S. [13]
;
Pedersen, Robert C. [14]
;
Morgan, Thomas M. [15]
;
Pfotenhauer, Jean P. [16]
;
Xia, Fan [17]
;
Bi, Weimin [18]
;
Kang, Sung-Hae L. [19]
;
Patel, Ankita [20]
;
Krantz, Ian D. [21]
;
Raible, Sarah E. [22]
;
Smith, Wendy [23]
;
Cristian, Ingrid [24]
;
Torti, Erin [25]
;
Juusola, Jane [26]
;
Milian, Francisca [27]
;
Wentzensen, Ingrid M. [28]
;
Person, Richard E. [29]
;
Kury, Sebastien [30]
;
Bezieau, Stephane [31]
;
Uguen, Kevin [32]
;
Ferec, Claude [33]
;
Munnich, Arnold ;
van Haelst, Mieke ;
Lichtenbelt, Klaske D. ;
van Gassen, Koen ;
Hagelstrom, Tanner ;
Chawla, Aditi ;
Perry, Denise L. ;
Taft, Ryan J. ;
Jones, Marilyn ;
Masser-Frye, Diane ;
Dyment, David ;
Venkateswaran, Sunita ;
Li, Chumei ;
Escobar, Luis F. ;
Horn, Denise ;
Spillmann, Rebecca C. ;
Pena, Loren ;
Wierzba, Jolanta ;
Strom, Tim M. ;
Parenti, Ilaria ;
Kaiser, Frank J. ;
Ehmke, Nadja ;
Schaaf, Christian P.
作者单位：
Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA
[1]
Tripler Army Med Ctr, Dept Pediat, Honolulu, HI 96859 USA
[2]
Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA
[3]
CHRU Brest, INSERM, Serv Genet Med, Brest, France
[4]
Charite Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, Germany
[5]
Tech Univ Munich, Inst Human Genet, Munich, Germany
[6]
Baylor Genet, Houston, TX USA
[7]
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
[8]
Charite Univ Med Berlin, Inst Med Genet & Humangenet, Berlin, Germany
[9]
Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, Canada
[10]
Childrens Hosp Colorado, Clin Genet & Metab, Aurora, CO USA
[11]
Rady Childrens Hosp, UC San Diego Sch Med, Dept Pediat, Div Genet, San Diego, CA USA
[12]
GeneDx, Gaithersburg, MD USA
[13]
Cleveland Clin Childrens, Dept Genet, Cleveland, OH USA
[14]
Barbara Bush Childrens Hosp, Maine Med Ctr, Dept Pediat, Portland, ME USA
[15]
Arnold Palmer Hosp, Dept Pediat, Div Genet, Orlando, FL USA
[16]
Vanderbilt Univ, Sch Med, Dept Pediat, Div Med Genet & Genom Med, Nashville, TN 37212 USA
[17]
Univ Calif Los Angeles, Dept Pathol & Lab Med, Los Angeles, CA USA
[18]
Univ Lubeck, Inst Human Genet, Sect Funct Genet, Lubeck, Germany
[19]
Duke Univ, Sch Med, Dept Pediat, Div Med Genet, Durham, NC USA
[20]
CHU Nantes, Serv Genet Med, Nantes, France
[21]
Univ Paris 05, Inst Imagine, Sorbonne Paris Cite, UMR1163, Paris, France
[22]
Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON, Canada
[23]
Vrije Univ Amsterdam Med Ctr, Dept Clin Genet, Amsterdam, Netherlands
[24]
Berlin Inst Hlth, Core Unit Bioinformat, Berlin, Germany
[25]
Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA
[26]
Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands
[27]
Illumina, Illumina Clin Serv Lab, San Diego, CA USA
[28]
McMaster Univ, Med Ctr, Hamilton, ON, Canada
[29]
St Vincent Childrens Hosp, Med Genet & Neurodev Ctr, Indianapolis, IN USA
[30]
Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA
[31]
Texas Childrens Hosp, Dept Radiol, Houston, TX 77030 USA
[32]
Med Univ Gdansk, Dept Gen Nursery, Gdansk, Poland
[33]
发布时间
2020-02-26
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Genetics in medicine
Genetics in medicine
1797-1807页
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