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Association of rs613872 and Trinucleotide Repeat Expansion in the TCF4 Gene of German Patients With Fuchs Endothelial Corneal Dystrophy.
Okumura N, Hayashi R, Nakano M, Tashiro K, Yoshii K, Aleff R, Butz M, Highsmith EW, Wieben ED, Fautsch MP, Baratz KH, Komori Y, Ueda E, Nakahara M, Weller J, Tourtas T, Schlötzer-Schrehardt U, Kruse F, Koizumi N. Okumura N, et al. Among authors: highsmith ew. Cornea. 2019 Jul;38(7):799-805. doi: 10.1097/ICO.0000000000001952. Cornea. 2019. PMID: 30973406 Free PMC article.
Trinucleotide Repeat Expansion in the Transcription Factor 4 (TCF4) Gene Leads to Widespread mRNA Splicing Changes in Fuchs' Endothelial Corneal Dystrophy.
Wieben ED, Aleff RA, Tang X, Butz ML, Kalari KR, Highsmith EW, Jen J, Vasmatzis G, Patel SV, Maguire LJ, Baratz KH, Fautsch MP. Wieben ED, et al. Among authors: highsmith ew. Invest Ophthalmol Vis Sci. 2017 Jan 1;58(1):343-352. doi: 10.1167/iovs.16-20900. Invest Ophthalmol Vis Sci. 2017. PMID: 28118661 Free PMC article.
Effect of Trinucleotide Repeat Expansion on the Expression of TCF4 mRNA in Fuchs' Endothelial Corneal Dystrophy.
Okumura N, Hayashi R, Nakano M, Yoshii K, Tashiro K, Sato T, Blake DJ, Aleff R, Butz M, Highsmith EW, Wieben ED, Fautsch MP, Baratz KH, Komori Y, Nakahara M, Tourtas T, Schlötzer-Schrehardt U, Kruse F, Koizumi N. Okumura N, et al. Among authors: highsmith ew. Invest Ophthalmol Vis Sci. 2019 Feb 1;60(2):779-786. doi: 10.1167/iovs.18-25760. Invest Ophthalmol Vis Sci. 2019. PMID: 30811544 Free PMC article.
Renal amyloidosis associated with a novel sequence variant of gelsolin.
Sethi S, Theis JD, Quint P, Maierhofer W, Kurtin PJ, Dogan A, Highsmith EW Jr. Sethi S, et al. Among authors: highsmith ew jr. Am J Kidney Dis. 2013 Jan;61(1):161-6. doi: 10.1053/j.ajkd.2012.07.016. Epub 2012 Aug 30. Am J Kidney Dis. 2013. PMID: 22938848
Mitochondrial Aging and Physical Decline: Insights From Three Generations of Women.
Hebert SL, Marquet-de Rougé P, Lanza IR, McCrady-Spitzer SK, Levine JA, Middha S, Carter RE, Klaus KA, Therneau TM, Highsmith EW, Nair KS. Hebert SL, et al. Among authors: highsmith ew. J Gerontol A Biol Sci Med Sci. 2015 Nov;70(11):1409-17. doi: 10.1093/gerona/glv086. Epub 2015 Aug 22. J Gerontol A Biol Sci Med Sci. 2015. PMID: 26297939 Free PMC article.
Benchmarks for cystic fibrosis carrier screening: a European consensus document.
Castellani C, Macek M Jr, Cassiman JJ, Duff A, Massie J, ten Kate LP, Barton D, Cutting G, Dallapiccola B, Dequeker E, Girodon E, Grody W, Highsmith EW, Kääriäinen H, Kruip S, Morris M, Pignatti PF, Pypops U, Schwarz M, Soller M, Stuhrman M, Cuppens H. Castellani C, et al. Among authors: highsmith ew. J Cyst Fibros. 2010 May;9(3):165-78. doi: 10.1016/j.jcf.2010.02.005. Epub 2010 Apr 2. J Cyst Fibros. 2010. PMID: 20363197 Free article.