换一批Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism
第一作者：
Chopra, Maya
作者：
Chopra, Maya [1]
;
McEntagart, Meriel [2]
;
Clayton-Smith, Jill [3]
;
Platzer, Konrad [4]
;
Shukla, Anju [5]
;
Girisha, Katta M. [6]
;
Kaur, Anupriya [7]
;
Kaur, Parneet [8]
;
Pfundt, Rolph [9]
;
Veenstra-Knol, Hermine [10]
;
Mancini, Grazia M. S. [11]
;
Cappuccio, Gerarda [12]
;
Brunetti-Pierri, Nicola [13]
;
Kortuem, Fanny [14]
;
Hempel, Maja [15]
;
Denecke, Jonas [16]
;
Lehman, Anna [17]
;
Kleefstra, Tjitske [18]
;
Stuurman, Kyra E. [19]
;
Wilke, Martina [20]
;
Thompson, Michelle L. [21]
;
Bebin, E. Martina [22]
;
Bijlsma, Emilia K. [23]
;
Hoffer, Mariette J., V [24]
;
Peeters-Scholte, Cacha [25]
;
Slavotinek, Anne [26]
;
Weiss, William A. [27]
;
Yip, Tiffany [28]
;
Hodoglugil, Ugur [29]
;
Whittle, Amy [30]
;
Monda, Janettedi [31]
;
Neira, Juanita [32]
;
Yang, Sandra [33]
;
Kirby, Amelia [34]
;
Pinz, Hailey [35]
;
Lechner, Rosan [36]
;
Sleutels, Frank [37]
;
Helbig, Ingo [38]
;
McKeown, Sarah [39]
;
Helbig, Katherine [40]
;
Willaert, Rebecca [41]
;
Juusola, Jane [42]
;
Semotok, Jennifer [43]
;
Hadonou, Medard [44]
;
Short, John [45]
;
Yachelevich, Naomi [46]
;
Lala, Sajel [47]
;
Fernandez-Jaen, Alberto [48]
;
Pelayo, Janvier Porta [49]
;
Kloeckner, Chiara [50]
;
Kamphausen, Susanne B. ;
Abou Jamra, Rami ;
Arelin, Maria ;
Innes, A. Micheil ;
Niskakoski, Anni ;
Amin, Sam ;
Williams, Maggie ;
Evans, Julie ;
Smithson, Sarah ;
Smedley, Damian ;
Burca, Annade ;
Kini, Usha ;
Delatycki, Martin B. ;
Gallacher, Lyndon ;
Yeung, Alison ;
Pais, Lynn ;
Field, Michael ;
Martin, Ellenore ;
Charles, Perrine ;
Courtin, Thomas ;
Keren, Boris ;
Iascone, Maria ;
Cereda, Anna ;
Poke, Gemma ;
Abadie, Veronique ;
Chalouhi, Christel ;
Parthasarathy, Padmini ;
Halliday, Benjamin J. ;
Robertson, Stephen P. ;
Lyonnet, Stanislas ;
Amiel, Jeanne ;
Gordon, Christopher T. ;
CAUSES Study ;
Genomics England Res Consortium
作者单位：
Broad Inst Ctr Mendelian Genom,Broad Inst Harvard & MIT
[1]
NSW Genet Learning Disabil Serv
[2]
Assistance Publ Hop Paris AP HP,Hop Necker Enfants Malad
[3]
Dept Med Genet,St Georges Univ Hosp NHS FT
[4]
Manchester Ctr Genom Med,Univ Manchester
[5]
Inst Human Genet,Univ Leipzig
[6]
Kasturba Med Coll,Manipal Acad Higher Educ
[7]
Genet Metab Unit,PGIMER
[8]
Dept Human Genet,Radboud Univ Nijmegen
[9]
Univ Med Ctr Groningen,Univ Groningen
[10]
Erasmus Med Ctr,Univ Med Ctr Rotterdam
[11]
Dept Translat Med,Federico II Univ Naples
[12]
Inst Human Genet,Univ Med Ctr Hamburg Eppendorf
[13]
Dept Med Genet,Univ British Columbia
[14]
HudsonAlpha Inst Biotechnol
[15]
Grp Hosp Pitie Salpetriere,Sorbonne Univ
[16]
Hop Pitie Salpetriere,Sorbonne Univ
[17]
Med Genet Lab,ASST Papa Giovanni XXIII
[18]
Pediat Dept,ASST Papa Giovanni XXIII
[19]
Genet Hlth Serv,Cent Hub Wellington Hosp
[20]
AP HP,Necker Enfants Malad Univ Hosp
[21]
Dunedin Sch Med,Univ Otago
[22]
Dept Neurol & Pediat,Univ Alabama Birmingham
[23]
Dept Clin Genet,Leiden Univ
[24]
Dept Neurol,Leiden Univ
[25]
Div Genet,UCSF
[26]
Dept Neurol,Univ Calif San Francisco
[27]
Inst Human Genet,Univ Calif San Francisco
[28]
Dept Pediat,UCSF
[29]
Dept Human Genet,Emory Univ
[30]
Clin Genom Program,GeneDx
[31]
Sect Med Genet,Wake Forest Sch Med
[32]
Div Med Genet,St Louis Univ
[33]
Div Clin Genet,Nickelaus Childrens Hlth Syst
[34]
Dept Pediat Neurol,Hosp Univ Quironsalud
[35]
Genol Ctr
[36]
Inst Human Genet,Univ Hosp Magdeburg
[37]
Univ Hosp,Univ Leipzig
[38]
Dept Med Genet,Cumming Sch Med
[39]
Blueprint Genet
[40]
Lab Embryol & Genet Human Malformat,Univ Paris
[41]
William Harvey Res Inst,Queen Mary Univ London
[42]
Div Neurol,Childrens Hosp Philadelphia
[43]
St Georges Genom Serv,St Georges Univ Hosp NHS FT
[44]
NYU Clin Genet Serv
[45]
We Genom Med Ctr,Univ Hosp Bristol NHS Fdn Trust
[46]
Bristol Genet Lab,North Bristol NHS Trust
[47]
Barts & London Sch Med & Dent,Queen Mary Univ London
[48]
Oxford Ctr Genom Med,Oxford & Spires Cleft Ctr
[49]
Victorian Clin Genet Serv,Murdoch Childrens Res Inst
[50]
发布时间
2022-10-29
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