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Improved Characterization of Complex β-Globin Gene Cluster Structural Variants Using Long-Read Sequencing.
Rangan A, Hein MS, Jenkinson WG, Koganti T, Aleff RA, Hilker CA, Blommel JH, Porter TR, Swanson KC, Lundquist P, Nguyen PL, Shi M, He R, Viswanatha DS, Jen J, Klee EW, Kipp BR, Hoyer JD, Wieben ED, Oliveira JL. Rangan A, et al. Among authors: aleff ra. J Mol Diagn. 2021 Dec;23(12):1732-1740. doi: 10.1016/j.jmoldx.2021.08.013. J Mol Diagn. 2021. PMID: 34839893 Free 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: aleff ra. 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.
27 results