换一批
换一批De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder
作者：
Reijnders, Margot R. F. [1]
;
Miller, Kerry A. [2]
;
Alvi, Mohsan [3]
;
Goos, Jacqueline A. C. [4]
;
Lees, Melissa M. [5]
;
de Burca, Anna [6]
;
Henderson, Alex [7]
;
Kraus, Alison [8]
;
Mikat, Barbara [9]
;
de Vries, Bert B. A. [10]
;
Isidor, Bertrand [11]
;
Kerr, Bronwyn [12]
;
Marcelis, Carlo [13]
;
Schluth-Bolard, Caroline [14]
;
Deshpande, Charu [15]
;
Ruivenkamp, Claudia A. L. [16]
;
Wieczorek, Dagmar [17]
;
Baralle, Diana [18]
;
Blair, Edward M. [19]
;
Engels, Hartmut [20]
;
Luedecke, Hermann-Josef [21]
;
Eason, Jacqueline [22]
;
Santen, Gijs W. E. [23]
;
Clayton-Smith, Jill [24]
;
Chandler, Kate [25]
;
Tatton-Brown, Katrina [26]
;
Payne, Katelyn [27]
;
Helbig, Katherine [28]
;
Radtke, Kelly [29]
;
Nugent, Kimberly M. [30]
;
Cremer, Kirsten [31]
;
Strom, Tim M. [32]
;
Bird, Lynne M. [33]
;
Sinnema, Margje [34]
;
Bitner-Glindzicz, Maria [35]
;
van Dooren, Marieke F. [36]
;
Alders, Marielle [37]
;
Koopmans, Marije [38]
;
Brick, Lauren [39]
;
Kozenko, Mariya [40]
;
Harline, Megan L. ;
Klaassens, Merel ;
Steinraths, Michelle ;
Cooper, Nicola S. ;
Edery, Patrick ;
Yap, Patrick ;
Terhal, Paulien A. ;
van der Spek, Peter J. ;
Lakeman, Phillis ;
Taylor, Rachel L. ;
Littlejohn, Rebecca O. ;
Pfundt, Rolph ;
Mercimek-Andrews, Saadet ;
Stegmann, Alexander P. A. ;
Kant, Sarina G. ;
McLean, Scott ;
Joss, Shelagh ;
Swagemakers, Sigrid M. A. ;
Douzgou, Sofia ;
Wall, Steven A. ;
Kury, Sebastien ;
Calpena, Eduardo ;
Koelling, Nils ;
McGowan, Simon J. ;
Twigg, Stephen R. F. ;
Mathijssen, Irene M. J. ;
Nellaker, Christoffer ;
Brunner, Han G. ;
Wilkie, Andrew O. M.
作者单位：
Queen Elizabeth Univ Hosp, West Scotland Clin Genet Serv, Glasgow G51 4TF, Lanark, Scotland
[1]
Univ Med Ctr Rotterdam, Dept Pathol, Erasmus MC, POB 2040, NL-3000 CA Rotterdam, Netherlands
[2]
Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany
[3]
Maastricht Univ, Med Ctr, Dept Clin Genet, NL-6229 ER Maastricht, Netherlands
[4]
UCL Great Ormond St Inst Child Hlth, Genet & Genom Med, 30 Guilford St, London WC1N 1EH, England
[5]
Univ Oxford, Dept Engn Sci, Visual Geometry Grp, Oxford OX1 2JD, England
[6]
Leiden Univ, Med Ctr, Dept Clin Genet, NL-2300 RC Leiden, Netherlands
[7]
Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, Netherlands
[8]
Chapel Allerton Hosp, Yorkshire Reg Genet Serv, Leeds LS7 4SA, W Yorkshire, England
[9]
Univ Calif San Diego, Dept Pediat, San Diego, CA 92123 USA
[10]
Univ Manchester, Sch Biol Sci, Div Evolut & Genom Sci, Manchester M13 9PL, Lancs, England
[11]
Acad Med Ctr, Dept Clin Genet, POB 22660, NL-1100 DD Amsterdam, Netherlands
[12]
Univ Med Ctr Rotterdam, Dept Plast & Reconstruct Surg, Erasmus MC, POB 2040, NL-3000 CA Rotterdam
[13]
Childrens Hosp San Antonio, Baylor Coll Med, Dept Pediat, San Antonio, TX 78207 USA
[14]
St Georges Univ London, St Georges Univ Hosp NHS Fdn Trust, Southwest Thames Reg Genet Ctr, London
[15]
Univ Oxford, John Radcliffe Hosp, Womens Ctr, Nuffield Dept Womens & Reprod Hlth, Oxford OX3 9DS
[16]
Univ Southampton, Human Dev & Hlth, Duthie Bldg, Southampton SO16 6YD, Hants, England
[17]
Genet Hlth Serv New Zealand, Auckland 1142, New Zealand
[18]
Univ Oxford, John Radcliffe Hosp, MRC Weatherall Inst Mol Med, Clin Genet Grp, Oxford OX3 9DS
[19]
Riley Hosp Children, Indianapolis, IN 46202 USA
[20]
Nottingham Univ Hosp NHS Trust, Nottingham Reg Genet Serv, City Hosp Campus,Hucknall Rd, Nottingham
[21]
Oxford Univ Hosp NHS Trust, John Radcliffe Hosp, Craniofacial Unit, Oxford OX3 9DU, England
[22]
CHU Nantes, Serv Genet Med, F-44093 Nantes 1, France
[23]
Hosp Civils Lyon, Serv Genet, Ctr Reference Anomalies Dev, F-69500 Bron, France
[24]
Univ Med Ctr Rotterdam, Erasmus MC, Dept Clin Genet, POB 21455, NL-3001 AL Rotterdam, Netherlands
[25]
Univ Toronto, Dept Pediat, Div Clin & Metab Genet, Toronto, ON, Canada
[26]
Univ Med Ctr Utrecht, Dept Genet, NL-3508 AB Utrecht, Netherlands
[27]
Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, NL-6500 HB
[28]
Newcastle Upon Tyne Hosp NHS Fdn Trust, Northern Genet Serv, Newcastle Upon Tyne NE1 3BZ, Tyne &
[29]
Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, D-45147 Essen, Germany
[30]
McMaster Univ, McMaster Childrens Hosp, Dept Pediat, Div Genet, Hamilton, ON L8N 3Z5, Canada
[31]
Univ Bonn, Sch Med, Inst Human Genet, D-53127 Bonn, Germany
[32]
Great Ormond St Hosp Sick Children, Dept Clin Genet, London WC1N 3JH, England
[33]
Univ Oxford, John Radcliffe Hosp, MRC Weatherall Inst Mol Med, Computat Biol Res Grp, Oxford OX3
[34]
Univ British Columbia, Dept Med Genet, Vancouver, BC V8Z 6R5, Canada
[35]
Ambry Genet, Div Clin Genom, Aliso Viejo, CA 92656 USA
[36]
Maastricht Univ, Dept Paediat, Med Ctr, NL-6229 ER Maastricht, Netherlands
[37]
Guys Hosp, South East Thames Reg Genet Serv, London SE1 9RT, England
[38]
Oxford Univ Hosp NHS Fdn Trust, Oxford Ctr Genom Med, Oxford OX3 7HE, England
[39]
Birmingham Womens & Childrens NHS Fdn Trust, West Midlands Reg Clin Genet Unit, Mindelsohn Way
[40]
发布时间
2019-03-17
- 浏览4
The American Journal of Human Genetics
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