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De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.
Wang S, Mandell JD, Kumar Y, Sun N, Morris MT, Arbelaez J, Nasello C, Dong S, Duhn C, Zhao X, Yang Z, Padmanabhuni SS, Yu D, King RA, Dietrich A, Khalifa N, Dahl N, Huang AY, Neale BM, Coppola G, Mathews CA, Scharf JM; Tourette International Collaborative Genetics Study (TIC Genetics); Tourette Syndrome Genetics Southern and Eastern Europe Initiative (TSGENESEE); Tourette Association of America International Consortium for Genetics (TAAICG); Fernandez TV, Buxbaum JD, De Rubeis S, Grice DE, Xing J, Heiman GA, Tischfield JA, Paschou P, Willsey AJ, State MW. Wang S, et al. Among authors: dahl n. Cell Rep. 2018 Sep 25;24(13):3441-3454.e12. doi: 10.1016/j.celrep.2018.08.082. Cell Rep. 2018. PMID: 30257206 Free PMC article.
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.
Wang S, Mandell JD, Kumar Y, Sun N, Morris MT, Arbelaez J, Nasello C, Dong S, Duhn C, Zhao X, Yang Z, Padmanabhuni SS, Yu D, King RA, Dietrich A, Khalifa N, Dahl N, Huang AY, Neale BM, Coppola G, Mathews CA, Scharf JM; Tourette International Collaborative Genetics Study (TIC Genetics); Tourette Syndrome Genetics Southern and Eastern Europe Initiative (TSGENESEE); Tourette Association of America International Consortium for Genetics (TAAICG); Fernandez TV, Buxbaum JD, De Rubeis S, Grice DE, Xing J, Heiman GA, Tischfield JA, Paschou P, Willsey AJ, State MW. Wang S, et al. Among authors: dahl n. Cell Rep. 2018 Dec 18;25(12):3544. doi: 10.1016/j.celrep.2018.12.024. Cell Rep. 2018. PMID: 30566877 Free article. No abstract available.
MuSK: a new target for lethal fetal akinesia deformation sequence (FADS).
Wilbe M, Ekvall S, Eurenius K, Ericson K, Casar-Borota O, Klar J, Dahl N, Ameur A, Annerén G, Bondeson ML. Wilbe M, et al. Among authors: dahl n. J Med Genet. 2015 Mar;52(3):195-202. doi: 10.1136/jmedgenet-2014-102730. Epub 2015 Jan 22. J Med Genet. 2015. PMID: 25612909
Single cell analysis of autism patient with bi-allelic NRXN1-alpha deletion reveals skewed fate choice in neural progenitors and impaired neuronal functionality.
Lam M, Moslem M, Bryois J, Pronk RJ, Uhlin E, Ellström ID, Laan L, Olive J, Morse R, Rönnholm H, Louhivuori L, Korol SV, Dahl N, Uhlén P, Anderlid BM, Kele M, Sullivan PF, Falk A. Lam M, et al. Among authors: dahl n. Exp Cell Res. 2019 Oct 1;383(1):111469. doi: 10.1016/j.yexcr.2019.06.014. Epub 2019 Jul 12. Exp Cell Res. 2019. PMID: 31302032 Free article.
456 results