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SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes.
Kim JH, Park EY, Chitayat D, Stachura DL, Schaper J, Lindstrom K, Jewett T, Wieczorek D, Draaisma JM, Sinnema M, Hoeberigs C, Hempel M, Bachman KK, Seeley AH, Stone JK, Kong HK, Vukadin L, Richard A, Shinde DN, McWalter K, Si YC, Douglas G, Lim ST, Vissers LELM, Lemaire M, Ahn EE. Kim JH, et al. Among authors: draaisma jm. Kidney Int. 2019 Jun;95(6):1494-1504. doi: 10.1016/j.kint.2019.01.025. Epub 2019 Mar 15. Kidney Int. 2019. PMID: 31005274 Free PMC article.
Short-term effects of an elimination diet and healthy diet in children with attention-deficit/hyperactivity disorder: a randomized-controlled trial.
Huberts-Bosch A, Bierens M, Ly V, van der Velde J, de Boer H, van Beek G, Appelman D, Visser S, Bos LHP, Reijmers L, van der Meer J, Kamphuis N, Draaisma JMT, Donders R, van de Loo-Neus GHH, Hoekstra PJ, Bottelier M, Arias-Vasquez A, Klip H, Buitelaar JK, van den Berg SW, Rommelse NN. Huberts-Bosch A, et al. Eur Child Adolesc Psychiatry. 2024 May;33(5):1503-1516. doi: 10.1007/s00787-023-02256-y. Epub 2023 Jul 11. Eur Child Adolesc Psychiatry. 2024. PMID: 37430148 Free PMC article. Clinical Trial.
Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype.
Swinkels ME, Simons A, Smeets DF, Vissers LE, Veltman JA, Pfundt R, de Vries BB, Faas BH, Schrander-Stumpel CT, McCann E, Sweeney E, May P, Draaisma JM, Knoers NV, van Kessel AG, van Ravenswaaij-Arts CM. Swinkels ME, et al. Among authors: draaisma jm. Am J Med Genet A. 2008 Jun 1;146A(11):1430-8. doi: 10.1002/ajmg.a.32310. Am J Med Genet A. 2008. PMID: 18452192
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.
Kim JH, Shinde DN, Reijnders MRF, Hauser NS, Belmonte RL, Wilson GR, Bosch DGM, Bubulya PA, Shashi V, Petrovski S, Stone JK, Park EY, Veltman JA, Sinnema M, Stumpel CTRM, Draaisma JM, Nicolai J; University of Washington Center for Mendelian Genomics; Yntema HG, Lindstrom K, de Vries BBA, Jewett T, Santoro SL, Vogt J; Deciphering Developmental Disorders Study; 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 DE, Traver D, Yao X, MacArthur DG, Brunner HG, Mancini GM, Myers RM, Owen LB, Lim ST, Stachura DL, Vissers LELM, Ahn EYE. Kim JH, et al. Among authors: draaisma jm. Am J Hum Genet. 2016 Sep 1;99(3):711-719. doi: 10.1016/j.ajhg.2016.06.029. Epub 2016 Aug 18. Am J Hum Genet. 2016. PMID: 27545680 Free PMC article.
Severe Nerve Enlargement in SOS2-Related Noonan Syndrome.
Leenders E, Draaisma F, Erasmus CE, Coppens C, Kleimeier LER, Burgers M, Rinne T, Zenker M, Mazzanti L, Reintjes W, van Alfen N, Draaisma JMT. Leenders E, et al. Among authors: draaisma jmt. Am J Med Genet A. 2025 Jun 5:e64142. doi: 10.1002/ajmg.a.64142. Online ahead of print. Am J Med Genet A. 2025. PMID: 40468845
135 results