换一批Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
第一作者：
Cogne, Benjamin
作者：
Cogne, Benjamin [1]
;
Ehresmann, Sophie [2]
;
Beauregard-Lacroix, Eliane [3]
;
Rousseau, Justine [4]
;
Besnard, Thomas [5]
;
Garcia, Thomas [6]
;
Petrovski, Slave [7]
;
Avni, Shiri [8]
;
McWalter, Kirsty [9]
;
Blackburn, Patrick R. [10]
;
Sanders, Stephan J. [11]
;
Uguen, Kevin [12]
;
Harris, Jacqueline [13]
;
Cohen, Julie S. [14]
;
Blyth, Moira [15]
;
Lehman, Anna [16]
;
Berg, Jonathan [17]
;
Li, Mindy H. [18]
;
Kini, Usha [19]
;
Joss, Shelagh [20]
;
von der Lippe, Charlotte [21]
;
Gordon, Christopher T. [22]
;
Humberson, Jennifer B. [23]
;
Robak, Laurie [24]
;
Scott, Daryl A. [25]
;
Sutton, Vernon R. [26]
;
Skraban, Cara M. [27]
;
Johnston, Jennifer J. [28]
;
Poduri, Annapurna [29]
;
Nordenskjold, Magnus [30]
;
Shashi, Vandana [31]
;
Gerkes, Erica H. [32]
;
Bongers, Ernie M. H. F. [33]
;
Gilissen, Christian [34]
;
Zarate, Yuri A. [35]
;
Kvarnung, Malin [36]
;
Lally, Kevin P. [37]
;
Kulch, Peggy A. [38]
;
Daniels, Brina [39]
;
Hernandez-Garcia, Andres [40]
;
Stong, Nicholas [41]
;
McGaughran, Julie [42]
;
Retterer, Kyle [43]
;
Tveten, Kristian [44]
;
Sullivan, Jennifer [45]
;
Geisheker, Madeleine R. [46]
;
Stray-Pedersen, Asbjorg [47]
;
Tarpinian, Jennifer M. [48]
;
Klee, Eric W. [49]
;
Sapp, Julie C. [50]
;
Zyskind, Jacob [51]
;
Holla, Oystein L. [52]
;
Bedoukian, Emma ;
Filippini, Francesca ;
Guimier, Anne ;
Picard, Arnaud ;
Busk, Oyvind L. ;
Punetha, Jaya ;
Pfundt, Rolph ;
Lindstrand, Anna ;
Nordgren, Ann ;
Kalb, Fayth ;
Desai, Megha ;
Ebanks, Ashley Harmon ;
Jhangiani, Shalini N. ;
Dewan, Tammie ;
Akdemir, Zeynep H. Coban ;
Telegrafi, Aida ;
Zackai, Elaine H. ;
Begtrup, Amber ;
Song, Xiaofei ;
Toutain, Annick ;
Wentzensen, Ingrid M. ;
Odent, Sylvie ;
Bonneau, Dominique ;
Latypova, Xenia ;
Deb, Wallid ;
Redon, Sylvia ;
Bilan, Frederic ;
Legendre, Marine ;
Troyer, Caitlin ;
Whitlock, Kerri ;
Caluseriu, Oana ;
Murphree, Marine, I ;
Pichurin, Pavel N. ;
Agre, Katherine ;
Gavrilova, Ralitza ;
Rinne, Tuula ;
Park, Meredith ;
Shain, Catherine ;
Heinzen, Erin L. ;
Xiao, Rui ;
Amiel, Jeanne ;
Lyonnet, Stanislas ;
Isidor, Bertrand ;
Biesecker, Leslie G. ;
Lowenstein, Dan ;
Posey, Jennifer E. ;
Denomme-Pichon, Anne-Sophie ;
Ferec, Claude ;
Yang, Xiang-Jiao ;
Rosenfeld, Jill A. ;
Gilbert-Dussardier, Brigitte ;
Audebert-Bellanger, Severine ;
Redon, Richard ;
Stessman, Holly A. F. ;
Nellaker, Christoffer ;
Yang, Yaping ;
Lupski, James R. ;
Goldstein, David B. ;
Eichler, Evan E. ;
Bolduc, Francois ;
Bezieau, Stephane ;
Kury, Sebastien ;
Campeau, Philippe M.
作者单位：
Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, NL-6525 GA
[1]
Ann & Robert H Lurie Childrens Hosp Chicago, Div Genet Birth Defects & Metab, Chicago, IL 60611 USA
[2]
Kennedy Krieger Inst, Div Neurogenet, Baltimore, MD 21205 USA
[3]
Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9700 RB Groningen, Netherlands
[4]
Columbia Univ, Inst Genom Med, New York, NY 10032 USA
[5]
Childrens Hosp Philadelphia, Roberts Individualized Med Genet Ctr, Philadelphia, PA 19104 USA
[6]
CHU Poitiers, Serv Genet, BP577, F-86021 Poitiers, France
[7]
McGill Univ, Rosalind & Morris Goodman Canc Res Ctr, Montreal, PQ H3A 1A3, Canada
[8]
Royal Brisbane & Womens Hosp, Genet Hlth Queensland, Brisbane, Qld 4029, Australia
[9]
Univ Melbourne, Austin Hlth & Royal Melbourne Hosp, Dept Med, Melbourne, Vic 3010, Australia
[10]
Univ Arkansas Med Sci, Sect Genet & Metab, Little Rock, AR 72202 USA
[11]
Telemark Hosp Trust, Dept Med Genet, N-3710 Skien, Norway
[12]
Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27710 USA
[13]
Leeds Teaching Hosp Natl Hlth Serv Trust, Chapel Allerton Hosp, Dept Clin Genet, Yorkshire Reg
[14]
Rush Univ, Dept Pediat, Div Genet, Med Ctr, Chicago, IL 60612 USA
[15]
Univ British Columbia, Dept Pediat, Vancouver, BC V6H 3N1, Canada
[16]
Univ Alberta, Dept Med Genet, Edmonton, AB T6G 2H7, Canada
[17]
Karolinska Inst, Ctr Mol Med, Dept Mol Med & Surg, S-17176 Stockholm, Sweden
[18]
Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA
[19]
Creighton Univ, Sch Med, Dept Pharmacol, Omaha, NE 68178 USA
[20]
Univ Calif San Francisco, Weill Inst Neurosci, Dept Psychiat, San Francisco, CA 94158 USA
[21]
Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA
[22]
Mayo Clin, Dept Clin Genom, Rochester, MN 55905 USA
[23]
Univ Brest Occidentale, Inst Brestois Sante Agro Matiere, Etab Francais Sang, INSERM,Genom Fonct &
[24]
Univ Dundee, Sch Med, Mol & Clin Med, Ninewells Hosp & Med Sch, Dundee DD1 9SY, Scotland
[25]
Harvard Med Sch, Boston Childrens Hosp, Div Epilepsy & Clin Neurophysiol, Boston, MA 02115 USA
[26]
Univ Nantes, CNRS, INSERM, Inst Thorax, F-44007 Nantes, France
[27]
Univ Oxford, Nuffield Dept Womens & Reprod Hlth, Oxford, England
[28]
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
[29]
GeneDx, 207 Perry Pkwy, Gaithersburg, MD 20877 USA
[30]
Oslo Univ Hosp, Rikshosp, Div Pediat & Adolecent Med, Norwegian Natl Unit Newborn Screening, Pb
[31]
Queen Elizabeth Univ Hosp, West Scotland Reg Genet Serv, Glasgow G51 4TF, Lanark, Scotland
[32]
CHU Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes, France
[33]
NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USA
[34]
CHU Tours, Serv Genet, 2 Blvd Tonnelle, F-37044 Tours, France
[35]
Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USA
[36]
Univ Virginia, Childrens Hosp, Div Genet, Dept Pediat, Charlottesville, VA 22903 USA
[37]
Boston Childrens Hosp, Dept Neurol, Epilepsy Genet Program, Boston, MA 02115 USA
[38]
Trondheim Reg & Univ Hosp, St Olavs Hosp, Dept Med Genet, N-7006 Trondheim, Norway
[39]
Oxford Univ Hosp Natl Hlth Serv Trust, Oxford Ctr Genom Med, Oxford OX3 7LE, England
[40]
Univ Oxford, Dept Engn Sci, Visual Geometry Grp, Oxford OX1 3PJ, England
[41]
CHU Rennes, Ctr Reference Anomalies Dev, Serv Genet Clin, CLAD Ouest,Ctr Reference Deficiences
[42]
Phoenix Childrens Hosp, Div Genet & Metab, Phoenix, AZ 85016 USA
[43]
Mayo Clin, Dept Lab Med & Pathol, Rochester, MN 55905 USA
[44]
INSERM, Lab Embryol & Genet Human Malformat, UMR 1163, Inst Imagine, F-75015 Paris, France
[45]
Paris Descartes Sorbonne Paris Cite Univ, Inst Imagine, F-75015 Paris, France
[46]
Reg Univ Brest, Ctr Hosp, Serv Genet Med & Biol Reprod, F-29200 Brest, France
[47]
Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA 98195 USA
[48]
Univ Montreal, Ctr Hosp Univ, St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada
[49]
Univ Texas Hlth Sci Ctr Houston, McGovern Med Sch, Dept Pediat Surg, Houston, TX 77030 USA
[50]
CHU Angers, Dept Biochim & Genet, F-49933 Angers 9, France
[51]
Univ Calif San Francisco, Dept Neurol, San Francisco, CA 94143 USA
[52]
发布时间
2020-03-10
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The American Journal of Human Genetics
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