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A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus.
Semler O, Garbes L, Keupp K, Swan D, Zimmermann K, Becker J, Iden S, Wirth B, Eysel P, Koerber F, Schoenau E, Bohlander SK, Wollnik B, Netzer C. Semler O, et al. Among authors: swan d. Am J Hum Genet. 2012 Aug 10;91(2):349-57. doi: 10.1016/j.ajhg.2012.06.011. Epub 2012 Aug 2. Am J Hum Genet. 2012. PMID: 22863195 Free PMC article.
Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome.
Ü Basmanav FB, Cau L, Tafazzoli A, Méchin MC, Wolf S, Romano MT, Valentin F, Wiegmann H, Huchenq A, Kandil R, Garcia Bartels N, Kilic A, George S, Ralser DJ, Bergner S, Ferguson DJP, Oprisoreanu AM, Wehner M, Thiele H, Altmüller J, Nürnberg P, Swan D, Houniet D, Büchner A, Weibel L, Wagner N, Grimalt R, Bygum A, Serre G, Blume-Peytavi U, Sprecher E, Schoch S, Oji V, Hamm H, Farrant P, Simon M, Betz RC. Ü Basmanav FB, et al. Among authors: swan d. Am J Hum Genet. 2016 Dec 1;99(6):1292-1304. doi: 10.1016/j.ajhg.2016.10.004. Epub 2016 Nov 17. Am J Hum Genet. 2016. PMID: 27866708 Free PMC article.
Emergence of wheat blast in Bangladesh was caused by a South American lineage of Magnaporthe oryzae.
Islam MT, Croll D, Gladieux P, Soanes DM, Persoons A, Bhattacharjee P, Hossain MS, Gupta DR, Rahman MM, Mahboob MG, Cook N, Salam MU, Surovy MZ, Sancho VB, Maciel JL, NhaniJúnior A, Castroagudín VL, Reges JT, Ceresini PC, Ravel S, Kellner R, Fournier E, Tharreau D, Lebrun MH, McDonald BA, Stitt T, Swan D, Talbot NJ, Saunders DG, Win J, Kamoun S. Islam MT, et al. Among authors: swan d. BMC Biol. 2016 Oct 3;14(1):84. doi: 10.1186/s12915-016-0309-7. BMC Biol. 2016. PMID: 27716181 Free PMC article.
Improving and correcting the contiguity of long-read genome assemblies of three plant species using optical mapping and chromosome conformation capture data.
Jiao WB, Accinelli GG, Hartwig B, Kiefer C, Baker D, Severing E, Willing EM, Piednoel M, Woetzel S, Madrid-Herrero E, Huettel B, Hümann U, Reinhard R, Koch MA, Swan D, Clavijo B, Coupland G, Schneeberger K. Jiao WB, et al. Among authors: swan d. Genome Res. 2017 May;27(5):778-786. doi: 10.1101/gr.213652.116. Epub 2017 Feb 3. Genome Res. 2017. PMID: 28159771 Free PMC article.
296 results