Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
作者:
Rots, Dmitrijs [1]
;
Chater-Diehl, Eric [2]
;
Dingemans, Alexander J. M. [3]
;
Goodman, Sarah J. [4]
;
Siu, Michelle T. [5]
;
Cytrynbaum, Cheryl [6]
;
Choufani, Sanaa [7]
;
Hoang, Ny [8]
;
Walker, Susan [9]
;
Awamleh, Zain [10]
;
Charkow, Joshua [11]
;
Meyn, Stephen [12]
;
Pfundt, Rolph [13]
;
Rinne, Tuula [14]
;
Gardeitchik, Thatjana [15]
;
de Vries, Bert B. A. [16]
;
Deden, A. Chantal [17]
;
Leenders, Erika [18]
;
Kwint, Michael [19]
;
Stumpel, Constance T. R. M. [20]
;
Stevens, Servi J. C. [21]
;
Vermeulen, Jeroen R. [22]
;
van Harssel, Jeske V. T. [23]
;
Bosch, Danielle G. M. [24]
;
van Gassen, Koen L., I [25]
;
van Binsbergen, Ellen [26]
;
de Geus, Christa M. [27]
;
Brackel, Hein [28]
;
Hempel, Maja [29]
;
Lessel, Davor [30]
;
Denecke, Jonas [31]
;
Slavotinek, Anne [32]
;
Strober, Jonathan [33]
;
Crunk, Amy [34]
;
Folk, Leandra [35]
;
Wentzensen, Ingrid M. [36]
;
Yang, Hui ;
Zou, Fanggeng ;
Millan, Francisca ;
Person, Richard ;
Xie, Yili ;
Liu, Shuxi ;
Ousager, Lilian B. ;
Larsen, Martin ;
Schultz-Rogers, Laura ;
Morava, Eva ;
Klee, Eric W. ;
Berry, Ian R. ;
Campbell, Jennifer ;
Lindstrom, Kristin ;
Pruniski, Brianna ;
Neumeyer, Ann M. ;
Radley, Jessica A. ;
Phornphutkul, Chanika ;
Schmidt, Berkley ;
Wilson, William G. ;
Ounap, Katrin ;
Reinson, Karit ;
Pajusalu, Sander ;
van Haeringen, Arie ;
Ruivenkamp, Claudia ;
Cuperus, Roos ;
Santos-Simarro, Fernando ;
Palomares-Bralo, Maria ;
Pacio-Miguez, Marta ;
Ritter, Alyssa ;
Bhoj, Elizabeth ;
Tonne, Elin ;
Tveten, Kristian ;
Cappuccio, Gerarda ;
Brunetti-Pierri, Nicola ;
Rowe, Leah ;
Bunn, Jason ;
Saenz, Margarita ;
Platzer, Konrad ;
Mertens, Mareike ;
Caluseriu, Oana ;
Nowaczyk, Malgorzata J. M. ;
Cohn, Ronald D. ;
Kannu, Peter ;
Alkhunaizi, Ebba ;
Chitayat, David ;
Scherer, Stephen W. ;
Brunner, Han G. ;
Vissers, Lisenka E. L. M. ;
Kleefstra, Tjitske ;
Koolen, David A. ;
Weksberg, Rosanna
作者单位:
Sch Med,Univ Virginia
[1]
Dept Clin Genet,Tartu Univ Hosp
[2]
Dept Clin Genet,Leiden Univ
[3]
Dept Paediat,Juliana Childrens Hosp HAGA
[4]
Inst Genet Med & Mol INGEMM,Hosp Univ La Paz
[5]
Div Human Genet,Childrens Hosp Philadelphia
[6]
Dept Med Genet,Oslo Univ Hosp
[7]
Dept Med Genet,Telemark Hosp Trust
[8]
Dept Translat Med,Univ Naples Federico II
[9]
Sch Med,Univ Colorado
[10]
Inst Human Genet,Univ Leipzig
[11]
Dept Med Genet,Univ Alberta
[12]
Dept Pathol & Mol Med,McMaster Univ
[13]
Res Inst Genet & Genome Biol,Hosp Sick Children
[14]
Genet Program,North York Gen Hosp
[15]
Div Clin & Metab Genet,Hosp Sick Children
[16]
Med Ctr,Radboud Univ Nijmegen
[17]
Dept Clin Genet,Maastricht Univ
[18]
Med Ctr,Maastricht Univ
[19]
Dept Genet,Univ Med Ctr
[20]
Univ Med Ctr Groningen,Univ Groningen
[21]
Catharina Hosp
[22]
Inst Human Genet,Univ Med Ctr Hamburg Eppendorf
[23]
Dept Pediat,Univ Med Ctr Hamburg Eppendorf
[24]
Div Genet,UCSF
[25]
Div Child Neurol,UCSF
[26]
GeneDx
[27]
Dept Clin Genet,Odense Univ Hosp
[28]
Dept Clin Genom,Mayo Clin
[29]
Dept Hlth Sci Res,Mayo Clin
[30]
Yorkshire & North East Genom Lab Hub Cent Lab
[31]
Dept Clin Genet,Chapel Allerton Hosp
[32]
Phoenix Childrens Hosp
[33]
Massachusetts Gen Hosp Children,Harvard Med Sch
[34]
Birmingham Womens & Childrens Hosp NHS Fdn Trust
[35]
Warren Alpert Med Sch,Brown Univ
[36]
发布时间
2022-10-29
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