De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

TitleDe Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.
Publication TypeJournal Article
AuthorsKim, J-H, Shinde, DN, Reijnders, MRF, Hauser, NS, Belmonte, RL, Wilson, GR, Bosch, DGM, Bubulya, PA, Shashi, V, Petrovski, S, Stone, JK, Park, EYoung, Veltman, JA, Sinnema, M, Stumpel, CTRM, Draaisma, JM, Nicolai, J, Yntema, HG, Lindstrom, K, de Vries, BBA, Jewett, T, Santoro, SL, Vogt, J, Bachman, KK, Seeley, AH, Krokosky, A, Turner, C, Rohena, L, Hempel, M, Kortüm, F, Lessel, D, Neu, A, Strom, TM, Wieczorek, D, Bramswig, N, Laccone, FA, Behunova, J, Rehder, H, Gordon, CT, Rio, M, Romana, S, Tang, S, El-Khechen, D, Cho, MT, McWalter, K, Douglas, G, Baskin, B, Begtrup, A, Funari, T, Schoch, K, Stegmann, APA, Stevens, SJC, Zhang, D-E, Traver, D, Yao, X, MacArthur, DG, Brunner, HG, Mancini, GM, Myers, RM, Owen, LB, Lim, S-T, Stachura, DL, Vissers, LELM, Ahn, E-YErin
Corporate AuthorsUniversity of Washington Center for Mendelian Genomics, Deciphering Developmental Disorders Study
PubMed ID27545680
PubMed Central IDPMC5011044
Grant ListU54 HG006493 / HG / NHGRI NIH HHS / United States
R21 CA185818 / CA / NCI NIH HHS / United States
R15 GM084407 / GM / NIGMS NIH HHS / United States
R01 CA190688 / CA / NCI NIH HHS / United States
UM1 HG006493 / HG / NHGRI NIH HHS / United States