Publications by authors named "Edward W Highsmith"

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Amplification-free long-read sequencing of TCF4 expanded trinucleotide repeats in Fuchs Endothelial Corneal Dystrophy.
Eric D Wieben, Ross A Aleff, Shubham Basu, Vivekananda Sarangi, Brett Bowman, Edward W Highsmith

PLoS One· March 2020

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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, Kei Tashiro, Kengo Yoshii, Edward W Highsmith

Cornea· July 2019

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itochondrial erebellar taxia, enal failure, europathy, and ncephalopathy (MCARNE).
Peng Soon Ng, Marcus V Pinto, Jadee L Neff, Linda Hasadsri, Edward W Highsmith

Neurol Genet· April 2019

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Effect of Trinucleotide Repeat Expansion on the Expression of TCF4 mRNA in Fuchs' Endothelial Corneal Dystrophy.
Naoki Okumura, Ryosuke Hayashi, Masakazu Nakano, Kengo Yoshii, Kei Tashiro, Edward W Highsmith

Invest Ophthalmol Vis Sci· February 2019

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Trinucleotide Repeat Expansion in the Transcription Factor 4 (TCF4) Gene Leads to Widespread mRNA Splicing Changes in Fuchs' Endothelial Corneal Dystrophy.
Eric D Wieben, Ross A Aleff, Xiaojia Tang, Malinda L Butz, Krishna R Kalari, Edward W Highsmith

Invest Ophthalmol Vis Sci· January 2017

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Mitochondrial Aging and Physical Decline: Insights From Three Generations of Women.
Sadie L Hebert, Perrine Marquet-de Rougé, Ian R Lanza, Shelly K McCrady-Spitzer, James A Levine, Edward W Highsmith

J Gerontol A Biol Sci Med Sci· November 2015

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The use of DNA fingerprinting to resolve conflicting results in patients with suspected gastrointestinal malignancy.
Sameer Islam, Ethan D Miller, Neal Patel, Giovanni De Petris, Edward W Highsmith

J Clin Gastroenterol· March 2013

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Renal amyloidosis associated with a novel sequence variant of gelsolin.
Sanjeev Sethi, Jason D Theis, Patrick Quint, William Maierhofer, Paul J Kurtin, Edward W Highsmith

Am J Kidney Dis· January 2013

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Benchmarks for cystic fibrosis carrier screening: a European consensus document.
Carlo Castellani, Milan Macek, Jean-Jacques Cassiman, Alistair Duff, John Massie, Edward W Highsmith

J Cyst Fibros· May 2010

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