换一批De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature
第一作者：
Nambot, Sophie
作者：
Nambot, Sophie [1]
;
Faivre, Laurence [2]
;
Mirzaa, Ghayda [3]
;
Thevenon, Julien [4]
;
Bruel, Ange-Line [5]
;
Mosca-Boidron, Anne-Laure [6]
;
Masurel-Paulet, Alice [7]
;
Goldenberg, Alice [8]
;
Le Meur, Nathalie [9]
;
Charollais, Aude [10]
;
Mignot, Cyril [11]
;
Petit, Florence [12]
;
Rossi, Massimiliano [13]
;
Metreau, Julia [14]
;
Layet, Valerie [15]
;
Amram, Daniel [16]
;
Boute-Benejean, Odile [17]
;
Bhoj, Elizabeth [18]
;
Cousin, Margot A. [19]
;
Kruisselbrink, Teresa M. [20]
;
Lanpher, Brendan C. [21]
;
Klee, Eric W. [22]
;
Fiala, Elise [23]
;
Grange, Dorothy K. [24]
;
Meschino, Wendy S. [25]
;
Hiatt, Susan M. [26]
;
Cooper, Gregory M. [27]
;
Olivie, Hilde [28]
;
Smith, Wendy E. [29]
;
Dumas, Meghan [30]
;
Lehman, Anna [31]
;
Adam, Shelin [32]
;
du Souich, Christele [33]
;
Elliott, Alison M. [34]
;
Mwenifumbo, Jill [35]
;
Nelson, Tanya N. [36]
;
van Karnebeek, Clara ;
Friedman, Jan M. ;
Inglese, Cara ;
Nizon, Mathilde ;
Guerrini, Renzo ;
Vetro, Annalisa ;
Kaplan, Eitan S. ;
Miramar, Dolores ;
Van Gils, Julien ;
Fergelot, Patricia ;
Bodamer, Olaf ;
Herkert, Johanna C. ;
Pajusalu, Sander ;
Ounap, Katrin ;
Filiano, James J. ;
Smol, Thomas ;
Piton, Amelie ;
Gerard, Benedicte ;
Chantot-Bastaraud, Sandra ;
Bienvenu, Thierry ;
Li, Dong ;
Juusola, Jane ;
Devriendt, Koen ;
Bilan, Frederic ;
Poe, Charlotte ;
Chevarin, Martin ;
Jouan, Thibaud ;
Tisserant, Emilie ;
Riviere, Jean-Baptiste ;
Tran Mau-Them, Frederic ;
Philippe, Christophe ;
Duffourd, Yannis ;
Dobyns, William B. ;
Hevner, Robert ;
Thauvin-Robinet, Christel
作者单位：
CHRU Strasbourg, Hop Civil, Lab Diagnost Genet, Strasbourg, France
[1]
Univ Bourgogne, INSERM, UMR 1231, GAD, Dijon, France
[2]
Hop Trousseau, Serv Genet & Embryol Med, Paris, France
[3]
Childrens Hosp Philadelphia, Dept Genet, Philadelphia, PA 19104 USA
[4]
Hop Kremlin Bicetre, Serv Neurol Pediat, Paris, France
[5]
Tartu Univ Hosp, Dept Clin Genet, Tartu, Estonia
[6]
Mayo Clin, Ctr Individualized Med, Rochester, MN 55905 USA
[7]
CHU Dijon Bourgogne, Hop Enfants, Ctr Genet, Dijon, France
[8]
CHU Rouen Normandie, Serv Pediat, Rouen, France
[9]
North York Gen Hosp, Genet Program, Toronto, ON, Canada
[10]
Hosp Miguel Servet, Serv Biochem, Genet Unit, Zaragoza, Spain
[11]
HudsonAlpha Inst Biotechnol, 601 Genome Way, Huntsville, AL USA
[12]
CHU Paris Ctr, Hop Cochin, Serv Genet & Biol Mol, Paris, France
[13]
GeneDx, Gaithersburg, MD USA
[14]
Univ Leuven, Ctr Human Genet, Leuven, Belgium
[15]
Barbara Bush Childrens Hosp, Maine Med Ctr, Dept Pediat, Portland, OR USA
[16]
Washington Univ, Sch Med, Dept Pediat, Div Genet & Genom Med, St Louis, MO 63110 USA
[17]
Univ Florence, Childrens Hosp Meyer, Neurosci Dept, Florence, Italy
[18]
Hosp Civils Lyon, Serv Genet, Ctr Rech Neurosci Lyon, INSERM,U1028,CNRS,UMR5292,GENDEVTeam, Bron
[19]
CHIC Creteil, Unite Genet Med, Creteil, France
[20]
Univ Washington, Dept Pediat, Seattle, WA 98195 USA
[21]
CHRU Lille, Inst Genet Med, Lille, France
[22]
Grp Hosp Havre, Serv Genet, Le Havre, France
[23]
CHU Rouen, Ctr Normand Genom Med & Med Personnalisee, Serv Genet, Rouen, France
[24]
Univ British Columbia, Dept Med Genet, Vancouver, BC V6H 3N1, Canada
[25]
CHU Nantes, Serv Genet Med, Nantes, France
[26]
Washington Univ, Sch Med, Dept Pediat, St Louis, MO 63110 USA
[27]
Dartmouth Hitchcock Med Ctr, Dept Pediat, Lebanon, NH 03766 USA
[28]
Boston Childrens Hosp, Div Genet & Genom, Boston, MA USA
[29]
Univ Hosp Leuven, Ctr Dev Disorders, Leuven, Belgium
[30]
Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands
[31]
CHU Bordeaux, Lab Genet Mol, Bordeaux, France
[32]
Seattle Childrens Res Inst, Ctr Integrat Brain Res, Seattle, WA USA
[33]
CHU Lille, Hop Jeanne Flandre, Clin Genet Guy Fontaine, Pole Biol Pathol Genet, F-59000 Lille
[34]
CHU Bordeaux, Serv Genet Med, Bordeaux, France
[35]
CHU Poitiers, Lab Genet, Serv Genet, Poitiers, France
[36]
发布时间
2020-10-12
- 浏览2
European journal of human genetics
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