Wieben ED - Search Results

1

A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy.

Wieben ED, Aleff RA, Tosakulwong N, Butz ML, Highsmith WE, Edwards AO, Baratz KH. Wieben ED, et al. PLoS One. 2012;7(11):e49083. doi: 10.1371/journal.pone.0049083. Epub 2012 Nov 21. PLoS One. 2012. PMID: 23185296 Free PMC article.

2

Hereditary hyperferritinemia-cataract syndrome in two large multigenerational American families.

Shekunov J, de Groen PC, Lindor NM, Klee GG, Aleff RA, Wieben ED, Mohney BG. Shekunov J, et al. Among authors: wieben ed. J AAPOS. 2011 Aug;15(4):356-61. doi: 10.1016/j.jaapos.2011.03.020. J AAPOS. 2011. PMID: 21907119

3

Comprehensive assessment of genetic variants within TCF4 in Fuchs' endothelial corneal dystrophy.

Wieben ED, Aleff RA, Eckloff BW, Atkinson EJ, Baheti S, Middha S, Brown WL, Patel SV, Kocher JP, Baratz KH. Wieben ED, et al. Invest Ophthalmol Vis Sci. 2014 Aug 28;55(9):6101-7. doi: 10.1167/iovs.14-14958. Invest Ophthalmol Vis Sci. 2014. PMID: 25168903 Free PMC article.

4

RNA toxicity and missplicing in the common eye disease fuchs endothelial corneal dystrophy.

Du J, Aleff RA, Soragni E, Kalari K, Nie J, Tang X, Davila J, Kocher JP, Patel SV, Gottesfeld JM, Baratz KH, Wieben ED. Du J, et al. Among authors: wieben ed. J Biol Chem. 2015 Mar 6;290(10):5979-90. doi: 10.1074/jbc.M114.621607. Epub 2015 Jan 15. J Biol Chem. 2015. PMID: 25593321 Free PMC article.

5

Trinucleotide Repeat Expansion in the TCF4 Gene in Fuchs' Endothelial Corneal Dystrophy in Japanese.

Nakano M, Okumura N, Nakagawa H, Koizumi N, Ikeda Y, Ueno M, Yoshii K, Adachi H, Aleff RA, Butz ML, Highsmith WE, Tashiro K, Wieben ED, Kinoshita S, Baratz KH. Nakano M, et al. Among authors: wieben ed. Invest Ophthalmol Vis Sci. 2015 Jul;56(8):4865-9. doi: 10.1167/iovs.15-17082. Invest Ophthalmol Vis Sci. 2015. PMID: 26218914

6

Whole-Exome Sequencing of 10 Scientists: Evaluation of the Process and Outcomes.

Lindor NM, Schahl KA, Johnson KJ, Hunt KS, Mensink KA, Wieben ED, Klee E, Black JL, Highsmith WE Jr, Thibodeau SN, Ferber MJ, Aypar U, Ji Y, Graham RP, Fiksdal AS, Sarangi V, Ormond KE, Riegert-Johnson DL, McAllister TM, Farrugia G, McCormick JB. Lindor NM, et al. Among authors: wieben ed. Mayo Clin Proc. 2015 Oct;90(10):1327-37. doi: 10.1016/j.mayocp.2015.05.021. Mayo Clin Proc. 2015. PMID: 26434960

7

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. 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.

8

Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features.

Niu Z, Pontifex CS, Berini S, Hamilton LE, Naddaf E, Wieben E, Aleff RA, Martens K, Gruber A, Engel AG, Pfeffer G, Milone M. Niu Z, et al. Front Neurol. 2018 Mar 19;9:147. doi: 10.3389/fneur.2018.00147. eCollection 2018. Front Neurol. 2018. PMID: 29599744 Free PMC article.

9

Utility of DNA, RNA, Protein, and Functional Approaches to Solve Cryptic Immunodeficiencies.

Cousin MA, Smith MJ, Sigafoos AN, Jin JJ, Murphree MI, Boczek NJ, Blackburn PR, Oliver GR, Aleff RA, Clark KJ, Wieben ED, Joshi AY, Pichurin PN, Abraham RS, Klee EW. Cousin MA, et al. Among authors: wieben ed. J Clin Immunol. 2018 Apr;38(3):307-319. doi: 10.1007/s10875-018-0499-6. Epub 2018 Apr 18. J Clin Immunol. 2018. PMID: 29671115

10

Repeat-Associated Non-ATG (RAN) Translation in Fuchs' Endothelial Corneal Dystrophy.

Soragni E, Petrosyan L, Rinkoski TA, Wieben ED, Baratz KH, Fautsch MP, Gottesfeld JM. Soragni E, et al. Among authors: wieben ed. Invest Ophthalmol Vis Sci. 2018 Apr 1;59(5):1888-1896. doi: 10.1167/iovs.17-23265. Invest Ophthalmol Vis Sci. 2018. PMID: 29677349 Free PMC article.

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