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JCI Insight|June 1, 2023
Natural history of retinitis pigmentosa based on genotype, vitamin A/E supplementation, and an electroretinogram biomarkerJason Comander, Carol Weigel DiFranco, Kit Sanderson, et al.
Molecular Vision|October 25, 2017
The importance of genetic testing as demonstrated by two cases of <i>CACNA1F</i>-associated retinal generation misdiagnosed as LCAClara J Men, Kinga M Bujakowska, Jason Comander, et al.
Molecular Vision|June 23, 2020
Biallelic <i>RP1</i>-associated retinal dystrophies: Expanding the mutational and clinical spectrumRachel M Huckfeldt, Florin Grigorian, Emily Place, et al.
Human Molecular Genetics|February 4, 2020
A combined RNA-seq and whole genome sequencing approach for identification of non-coding pathogenic variants in single familiesRevital Bronstein, Elizabeth E Capowski, Sudeep Mehrotra, et al.
RNA Biology|March 8, 2016
A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regressionMarni J Falk, Xiaowu Gai, Megumi Shigematsu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 14, 2016
Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerationsKinga M Bujakowska, Rosario Fernandez-Godino, Emily Place, et al.
Investigative Ophthalmology & Visual Science|December 4, 2014
Targeted exon sequencing in Usher syndrome type IKinga M Bujakowska, Mark Consugar, Emily Place, et al.
Molecular Vision|August 30, 2017
Diagnostic genetic testing for patients with bilateral optic neuropathy and comparison of clinical features according to <i>OPA1</i> mutation statusEric D Gaier, Katherine Boudreault, Isao Nakata, et al.
Plos One|July 30, 2013
Primary respiratory chain disease causes tissue-specific dysregulation of the global transcriptome and nutrient-sensing signaling networkZhe Zhang, Mai Tsukikawa, Min Peng, et al.
BMC Bioinformatics|October 21, 2011
Mitochondrial genome sequence analysis: a custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracyHongbo M Xie, Juan C Perin, Theodore G Schurr, et al.
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