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Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4: A poly-glycine disease.
Wallenius J, Kafantari E, Jhaveri E, Gorcenco S, Ameur A, Karremo C, Dobloug S, Karrman K, de Koning T, Ilinca A, Landqvist Waldö M, Arvidsson A, Persson S, Englund E, Ehrencrona H, Puschmann A. Wallenius J, et al. Among authors: ameur a. Am J Hum Genet. 2024 Jan 4;111(1):82-95. doi: 10.1016/j.ajhg.2023.11.008. Epub 2023 Nov 29. Am J Hum Genet. 2024. PMID: 38035881 Free PMC article.
Genetic adaptation of fatty-acid metabolism: a human-specific haplotype increasing the biosynthesis of long-chain omega-3 and omega-6 fatty acids.
Ameur A, Enroth S, Johansson A, Zaboli G, Igl W, Johansson AC, Rivas MA, Daly MJ, Schmitz G, Hicks AA, Meitinger T, Feuk L, van Duijn C, Oostra B, Pramstaller PP, Rudan I, Wright AF, Wilson JF, Campbell H, Gyllensten U. Ameur A, et al. Am J Hum Genet. 2012 May 4;90(5):809-20. doi: 10.1016/j.ajhg.2012.03.014. Epub 2012 Apr 12. Am J Hum Genet. 2012. PMID: 22503634 Free PMC article.
A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities.
Eisfeldt J, Ameur A, Lenner F, Ten Berk de Boer E, Ek M, Wincent J, Vaz R, Ottosson J, Jonson T, Ivarsson S, Thunström S, Topa A, Stenberg S, Rohlin A, Sandestig A, Nordling M, Palmebäck P, Burstedt M, Nordin F, Stattin EL, Sobol M, Baliakas P, Bondeson ML, Höijer I, Saether KB, Lovmar L, Ehrencrona H, Melin M, Feuk L, Lindstrand A. Eisfeldt J, et al. Among authors: ameur a. Genome Res. 2024 Nov 20;34(11):1774-1784. doi: 10.1101/gr.279510.124. Genome Res. 2024. PMID: 39472022 Free PMC article.
Binding sites for metabolic disease related transcription factors inferred at base pair resolution by chromatin immunoprecipitation and genomic microarrays.
Rada-Iglesias A, Wallerman O, Koch C, Ameur A, Enroth S, Clelland G, Wester K, Wilcox S, Dovey OM, Ellis PD, Wraight VL, James K, Andrews R, Langford C, Dhami P, Carter N, Vetrie D, Pontén F, Komorowski J, Dunham I, Wadelius C. Rada-Iglesias A, et al. Among authors: ameur a. Hum Mol Genet. 2005 Nov 15;14(22):3435-47. doi: 10.1093/hmg/ddi378. Epub 2005 Oct 12. Hum Mol Genet. 2005. PMID: 16221759
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.
SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population.
Ameur A, Dahlberg J, Olason P, Vezzi F, Karlsson R, Martin M, Viklund J, Kähäri AK, Lundin P, Che H, Thutkawkorapin J, Eisfeldt J, Lampa S, Dahlberg M, Hagberg J, Jareborg N, Liljedahl U, Jonasson I, Johansson Å, Feuk L, Lundeberg J, Syvänen AC, Lundin S, Nilsson D, Nystedt B, Magnusson PK, Gyllensten U. Ameur A, et al. Eur J Hum Genet. 2017 Nov;25(11):1253-1260. doi: 10.1038/ejhg.2017.130. Epub 2017 Aug 23. Eur J Hum Genet. 2017. PMID: 28832569 Free PMC article.
224 results