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De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome
Authors :
Kim, J.-H. (Jung-Hyun) Shinde, D.N. (Deepali N.) Reijnders, M.R.F. (Margot R.F.) Hauser, N.S. (Natalie S.) Belmonte, R.L. (Rebecca L.) Wilson, G.R. (Gregory R.) Bosch, D.G.M. (Daniëlle G.M.) Bubulya, P.A. (Paula A.) Shashi, V. (Vandana) Petrovski, S. (Slavé) Stone, J.K. (Joshua K.) Park, E.Y. (Eun Young) Veltman, J.A. (Joris) Sinnema, M. (Margje) Stumpel, C. (Connie) Draaisma, J. (Jos) Nicolai, J. (Joost) Yntema, H.G. Lindstrom, K. (Kristin) Vries, B. (Boukje) de Jewett, T. (Tamison) Santoro, S.L. (Stephanie L.) Vogt, J. (Julie) Bachman, K.K. (Kristine K.) Seeley, A.H. (Andrea ) Krokosky, A. (Alyson) Turner, C. (Clesson) Rohena, L. (Luis) Hempel, M. (Maja) Kortüm, F. (Fanny) Lessel, D. (Davor) Neu, A. (Axel) Strom, T.M. (Tim) Wieczorek, D. (Dagmar) Bramswig, N. (Nuria) Laccone, F.A. (Franco A.) Behunova, J. (Jana) Rehder, H. (Helga) Gordon, C.T. (Christopher T.) Rio, M. (Marlène) Romana, S. (Serge) Tang, S. (Sha) El-Khechen, D. (Dima) Cho, M.T. (Megan T.) McWalter, K. (Kirsty) Douglas, G. (Ganka) Baskin, B. (Berivan) Begtrup, A. (Amber) Funari, T. (Tara) Schoch, K. (Kelly) Stegmann, A.P.A. (Alexander P.A.) Stevens, S.J. Zhang, D.-E. (Dong-Er) Traver, D. (David) Yao, X. (Xu) MacArthur, D.G. (Daniel G.) Brunner, H.G. Mancini, G.M.S. (Grazia) Myers, R.H. (Richard) Owen, L.B. (Laurie B.) Lim, S.-T. (Ssang-Taek) Stachura, D.L. (David L.) Vissers, L.E.L.M. Ahn, E.-Y.E. (Eun-Young Erin) Kim, J.-H. (Jung-Hyun) Shinde, D.N. (Deepali N.) Reijnders, M.R.F. (Margot R.F.) Hauser, N.S. (Natalie S.) Belmonte, R.L. (Rebecca L.) Wilson, G.R. (Gregory R.) Bosch, D.G.M. (Daniëlle G.M.) Bubulya, P.A. (Paula A.) Shashi, V. (Vandana) Petrovski, S. (Slavé) Stone, J.K. (Joshua K.) Park, E.Y. (Eun Young) Veltman, J.A. (Joris) Sinnema, M. (Margje) Stumpel, C. (Connie) Draaisma, J. (Jos) Nicolai, J. (Joost) Yntema, H.G. Lindstrom, K. (Kristin) Vries, B. (Boukje) de Jewett, T. (Tamison) Santoro, S.L. (Stephanie L.) Vogt, J. (Julie) Bachman, K.K. (Kristine K.) Seeley, A.H. (Andrea ) Krokosky, A. (Alyson) Turner, C. (Clesson) Rohena, L. (Luis) Hempel, M. (Maja) Kortüm, F. (Fanny) Lessel, D. (Davor) Neu, A. (Axel) Strom, T.M. (Tim) Wieczorek, D. (Dagmar) Bramswig, N. (Nuria) Laccone, F.A. (Franco A.) Behunova, J. (Jana) Rehder, H. (Helga) Gordon, C.T. (Christopher T.) Rio, M. (Marlène) Romana, S. (Serge) Tang, S. (Sha) El-Khechen, D. (Dima) Cho, M.T. (Megan T.) McWalter, K. (Kirsty) Douglas, G. (Ganka) Baskin, B. (Berivan) Begtrup, A. (Amber) Funari, T. (Tara) Schoch, K. (Kelly) Stegmann, A.P.A. (Alexander P.A.) Stevens, S.J. Zhang, D.-E. (Dong-Er) Traver, D. (David) Yao, X. (Xu) MacArthur, D.G. (Daniel G.) Brunner, H.G. Mancini, G.M.S. (Grazia) Myers, R.H. (Richard) Owen, L.B. (Laurie B.) Lim, S.-T. (Ssang-Taek) Stachura, D.L. (David L.) Vissers, L.E.L.M. Ahn, E.-Y.E. (Eun-Young Erin)
Publication Year :
2016
Abstract
The overall understanding of the molecular etiologies of intellectual disability (ID) and developmental delay (DD) is increasing as next-generation sequencing technologies identify genetic variants in individuals with such disorders. However, detailed analyses c
Details
Database :
OAIster
Notes :
American Journal of Human Genetics, English
Publication Type :
Electronic Resource
Accession number :
edsoai.on1019678284
Document Type :
Electronic Resource
Full Text :
https://doi.org/10.1016.j.ajhg.2016.06.029