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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.
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: stachura dl. 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.
Identification of dendritic antigen-presenting cells in the zebrafish.
Lugo-Villarino G, Balla KM, Stachura DL, Bañuelos K, Werneck MB, Traver D. Lugo-Villarino G, et al. Among authors: stachura dl. Proc Natl Acad Sci U S A. 2010 Sep 7;107(36):15850-5. doi: 10.1073/pnas.1000494107. Epub 2010 Aug 23. Proc Natl Acad Sci U S A. 2010. PMID: 20733076 Free PMC article.
Cellular dissection of zebrafish hematopoiesis.
Stachura DL, Traver D. Stachura DL, et al. Methods Cell Biol. 2011;101:75-110. doi: 10.1016/B978-0-12-387036-0.00004-9. Methods Cell Biol. 2011. PMID: 21550440 Review.
Dissection of vertebrate hematopoiesis using zebrafish thrombopoietin.
Svoboda O, Stachura DL, Machoňová O, Pajer P, Brynda J, Zon LI, Traver D, Bartůněk P. Svoboda O, et al. Among authors: stachura dl. Blood. 2014 Jul 10;124(2):220-8. doi: 10.1182/blood-2014-03-564682. Epub 2014 May 28. Blood. 2014. PMID: 24869937 Free PMC article.
45 results