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R. Aleff · SciRah

Researcher profile · Semantic Scholar

R. Aleff

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R. Aleff — researcher profile on SciRah

h-index: 18
Works: 41
Citations: 1,035

Most-cited papers

A Common Trinucleotide Repeat Expansion within the Transcription Factor 4 (TCF4, E2-2) Gene Predicts Fuchs Corneal Dystrophy
E. Wieben, R. Aleff, Nirubol Tosakulwong, Malinda L. Butz +3 more
2012PLoS ONE265 citations Open access
Semantic Scholar
RNA Toxicity and Missplicing in the Common Eye Disease Fuchs Endothelial Corneal Dystrophy
Jintang Du, R. Aleff, Elisabetta Soragni, K. Kalari +8 more
2015Journal of Biological Chemistry135 citations Open access
Semantic Scholar
Trinucleotide Repeat Expansion in the Transcription Factor 4 (TCF4) Gene Leads to Widespread mRNA Splicing Changes in Fuchs' Endothelial Corneal Dystrophy
E. Wieben, R. Aleff, Xiao-Jia Tang, Malinda L. Butz +8 more
2017Investigative Ophthalmology and Visual Science79 citations Open access
Semantic Scholar
Trinucleotide Repeat Expansion in the TCF4 Gene in Fuchs' Endothelial Corneal Dystrophy in Japanese.
Masakazu Nakano, Naoki Okumura, Hiroko Nakagawa, N. Koizumi +11 more
2015Investigative Ophthalmology and Visual Science64 citations
Semantic Scholar
Dual asymmetric PCR: one-step construction of synthetic genes.
G. S. Sandhu, R. Aleff, B. C. Kline
1992BioTechniques64 citations
Semantic Scholar
Comprehensive assessment of genetic variants within TCF4 in Fuchs' endothelial corneal dystrophy.
E. Wieben, R. Aleff, B. Eckloff, E. Atkinson +6 more
2014Investigative Ophthalmology and Visual Science40 citations Open access
Semantic Scholar
Gene expression in the corneal endothelium of Fuchs endothelial corneal dystrophy patients with and without expansion of a trinucleotide repeat in TCF4
E. Wieben, R. Aleff, Xiao-Jia Tang, K. Kalari +4 more
2018PLoS ONE36 citations Open access
Semantic Scholar
Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features
Z. Niu, Carly S. Pontifex, Sarah E. Berini, Leslie E. Hamilton +8 more
2018Frontiers in Neurology34 citations Open access
Semantic Scholar
Long-read targeted sequencing uncovers clinicopathological associations for C9orf72-linked diseases
M. Dejesus-Hernandez, R. Aleff, Jazmyne L. Jackson, N. Finch +18 more
2021Brain : a journal of neurology30 citations Open access
Semantic Scholar
Effect of Trinucleotide Repeat Expansion on the Expression of TCF4 mRNA in Fuchs' Endothelial Corneal Dystrophy
Naoki Okumura, R. Hayashi, Masakazu Nakano, Kengo Yoshii +15 more
2019Investigative Ophthalmology and Visual Science28 citations Open access
Semantic Scholar
Association of rs613872 and Trinucleotide Repeat Expansion in the TCF4 Gene of German Patients with Fuchs Endothelial Corneal Dystrophy
Naoki Okumura, Ryousuke Hayashi, Masakazu Nakano, K. Tashiro +15 more
2019Cornea27 citations Open access
Semantic Scholar
Utility of DNA, RNA, Protein, and Functional Approaches to Solve Cryptic Immunodeficiencies
M. Cousin, Matthew J. Smith, Ashley N. Sigafoos, Jay J. Jin +11 more
2018Journal of Clinical Immunology26 citations
Semantic Scholar
Amplification-free long-read sequencing of TCF4 expanded trinucleotide repeats in Fuchs Endothelial Corneal Dystrophy
E. Wieben, R. Aleff, Shubham Basu, V. Sarangi +9 more
2019PLoS ONE25 citations Open access
Semantic Scholar
Gene Expression and Missplicing in the Corneal Endothelium of Patients With a TCF4 Trinucleotide Repeat Expansion Without Fuchs' Endothelial Corneal Dystrophy
E. Wieben, K. Baratz, R. Aleff, K. Kalari +4 more
2019Investigative Ophthalmology and Visual Science24 citations Open access
Semantic Scholar
Molecular detection and identification of Paracoccidioides brasiliensis
G. S. Sandhu, R. Aleff, B. Kline, C. da Silva Lacaz
1997Journal of Clinical Microbiology23 citations Open access
Semantic Scholar
Fuchs' Endothelial Corneal Dystrophy in Patients With Myotonic Dystrophy, Type 1
Nelson S. Winkler, M. Milone, Jennifer M. Martinez-Thompson, Harish Raja +5 more
2018Investigative Ophthalmology and Visual Science22 citations Open access
Semantic Scholar
Comparison of TCF4 repeat expansion length in corneal endothelium and leukocytes of patients with Fuchs endothelial corneal dystrophy
E. Wieben, R. Aleff, T. Rinkoski, K. Baratz +4 more
2021PLoS ONE21 citations Open access
Semantic Scholar
Repopulation of vascularized bone allotransplants with recipient-derived cells: Detection by laser capture microdissection and real-time PCR
M. Pelzer, M. Larsen, Patricia F. Friedrich, R. Aleff +1 more
2009Journal of Orthopaedic Research18 citations Open access
Semantic Scholar
Improved Characterization of Complex β-Globin Gene Cluster Structural Variants Using Long-Read Sequencing.
A. Rangan, Molly S. Hein, W. Jenkinson, T. Koganti +16 more
2021Journal of Molecular Diagnostics14 citations Open access
Semantic Scholar
Disease Expression and Familial Transmission of Fuchs Endothelial Corneal Dystrophy With and Without CTG18.1 Expansion
Timothy T. Xu, Yi-Ju Li, N. Afshari, R. Aleff +8 more
2021Investigative Ophthalmology and Visual Science12 citations Open access
Semantic Scholar
Hereditary hyperferritinemia-cataract syndrome in two large multigenerational American families.
Julia Shekunov, P. D. de Groen, N. Lindor, G. Klee +3 more
2011Journal of AAPOS11 citations
Semantic Scholar
In situ hybridization in paracoccidioidomycosis.
T. De Brito, G. S. Sandhu, B. Kline, R. Aleff +4 more
1999Medical Mycology11 citations Open access
Semantic Scholar
Site-specific proteolysis of mini-F plasmid replication protein RepE destroys initiator function and generates an incompatibility substance
B. C. Kline, G. S. Sandhu, Bruce W. Eckloff, R. Aleff
1992Journal of Bacteriology8 citations Open access
Semantic Scholar
Changes in diaphragm muscle collagen gene expression after acute unilateral denervation.
Luc E. Gosselin, G. Sieck, R. Aleff, Daniel A. Martinez +1 more
1995Journal of applied physiology7 citations
Semantic Scholar
Relationship of Body Mass Index with Fuchs’ Endothelial Corneal Dystrophy Severity and TCF4 CTG18.1 Trinucleotide Repeat Expansion
Bhumi Kinariwala, Timothy T. Xu, K. Baratz, R. Aleff +6 more
2021Cornea6 citations Open access
Semantic Scholar
Trinucleotide repeat expansion in the TCF4 gene and corneal ultrastructural changes in Fuchs endothelial corneal dystrophy.
Sanjay V. Patel, Katrin Wacker, R. Aleff, E. Wieben +1 more
20172 citations
Semantic Scholar
Dual asymmetric PCR
G. S. Sandhu, R. Aleff, B. Kline
19922 citations
Semantic Scholar
Long Range Sequencing Shows Improved Resolution in the Detection of Beta Globin Cluster Variants
A. Rangan, Molly S. Hein, T. Koganti, W. Jenkinson +13 more
2019Blood1 citations Open access
Semantic Scholar
Transplant Chimerism in Porcine Structural Vascularized Bone Allotransplants
Rudolph H Houben, R. Aleff, Patricia F. Friedrich, A. Shin +3 more
2020Gene0 citations Open access
Semantic Scholar
CTG Repeat Expansion in TCF4 without Phenotypic Fuchs Dystrophy: a Genetic Analysis
K. Baratz, M. Fautsch, R. Aleff, Xiao-Jia Tang +4 more
20190 citations
Semantic Scholar
Cornea Gene Expression and Missplicing in the Corneal Endothelium of Patients With a TCF 4 Trinucleotide Repeat Expansion Without Fuchs ’ Endothelial Corneal Dystrophy
E. Wieben, K. Baratz, R. Aleff, K. Kalari +5 more
20190 citations
Semantic Scholar
RNA splicing and gene expression in corneal endothelium in Fuchs dystrophy from patients with and without TCF4 trinucleotide repeat expansion.
K. Baratz, R. Aleff, Xiao-Jia Tang, K. Kalari +4 more
20180 citations
Semantic Scholar
Association of rs613872 and trinucleotide repeat expansion in the TCF4 gene in Fuchs endothelial corneal dystrophy in Germany
Yuya Komori, Naoki Okumura, R. Hayashi, Masakazu Nakano +12 more
20180 citations
Semantic Scholar
Investigating the presence of Fuchs endothelial corneal dystrophy in patients with myotonic dystrophy, type 1
Nelson S. Winkler, M. Milone, Harish Raja, R. Aleff +4 more
20170 citations
Semantic Scholar
Characterization of mis-splicing events in primary Fuchs corneal endothelial cell cultures harboring TCF4 repeat expansion
T. Rinkoski, K. Baratz, U. R. Chowdhury, R. Aleff +2 more
20160 citations
Semantic Scholar
RNA toxicity in corneal endothelial tissue in Fuchs dystrophy
Elisabetta Soragni, Jintang Du, R. Aleff, K. Baratz +2 more
20150 citations
Semantic Scholar
Identification of CUG-containing RNA foci in cultured Fuchs endothelial corneal dystrophy cells
K. Baratz, S. Bhattacharya, C. Bahler, R. Aleff +6 more
20150 citations
Semantic Scholar
Corneal Dystrophy Common Eye Disease Fuchs Endothelial RNA Toxicity and Missplicing in the Molecular Bases of Disease :
Jintang Du, R. Aleff, Elisabetta Soragni, K. Kalari +8 more
20150 citations
Semantic Scholar
Comprehensive Assessment of Genetic Variants within TCF4 in Fuchs Corneal Dystrophy
K. Baratz, R. Aleff, J. Kocher, B. Eckloff +5 more
20140 citations
Semantic Scholar
A Family-based Investigation of the Role of TCF4 Trinucleotide Repeat Expansion in Fuchs Endothelial Corneal Dystrophy (FECD)
K. Baratz, R. Aleff, Yi-Ju Li, Malinda L. Butz +5 more
20130 citations
Semantic Scholar
An Association between an Expanded Trinucleotide Repeat in Transcription Factor 4 (TCF4, E2-2) and Fuchs Corneal Dystrophy
K. Baratz, R. Aleff, Nirubol Tosakulwong, Laura A. Hecker +3 more
20120 citations
Semantic Scholar

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