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Sequencing of high-complexity DNA pools for identification of nucleotide and structural variants in regions associated with complex traits.
Zaboli G, Ameur A, Igl W, Johansson Å, Hayward C, Vitart V, Campbell S, Zgaga L, Polasek O, Schmitz G, van Duijn C, Oostra B, Pramstaller P, Hicks A, Meitinger T, Rudan I, Wright A, Wilson JF, Campbell H, Gyllensten U; EUROSPAN Consortium. Zaboli G, et al. Among authors: ameur a. Eur J Hum Genet. 2012 Jan;20(1):77-83. doi: 10.1038/ejhg.2011.138. Epub 2011 Aug 3. Eur J Hum Genet. 2012. PMID: 21811304 Free PMC article.
Abolished InsP3R2 function inhibits sweat secretion in both humans and mice.
Klar J, Hisatsune C, Baig SM, Tariq M, Johansson AC, Rasool M, Malik NA, Ameur A, Sugiura K, Feuk L, Mikoshiba K, Dahl N. Klar J, et al. Among authors: ameur a. J Clin Invest. 2014 Nov;124(11):4773-80. doi: 10.1172/JCI70720. Epub 2014 Oct 20. J Clin Invest. 2014. PMID: 25329695 Free PMC article.
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: ameur a. 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
Mutation in CEP63 co-segregating with developmental dyslexia in a Swedish family.
Einarsdottir E, Svensson I, Darki F, Peyrard-Janvid M, Lindvall JM, Ameur A, Jacobsson C, Klingberg T, Kere J, Matsson H. Einarsdottir E, et al. Among authors: ameur a. Hum Genet. 2015 Nov;134(11-12):1239-48. doi: 10.1007/s00439-015-1602-1. Epub 2015 Sep 23. Hum Genet. 2015. PMID: 26400686 Free PMC article.
SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts.
Stattin EL, Henning P, Klar J, McDermott E, Stecksen-Blicks C, Sandström PE, Kellgren TG, Rydén P, Hallmans G, Lönnerholm T, Ameur A, Helfrich MH, Coxon FP, Dahl N, Wikström J, Lerner UH. Stattin EL, et al. Among authors: ameur a. Sci Rep. 2017 Jun 7;7(1):3012. doi: 10.1038/s41598-017-02533-2. Sci Rep. 2017. PMID: 28592808 Free PMC article.
215 results