Gupta, Priya R; Pendse, Nachiket; Greenwald, Scott H et al. (2018) Ift172 conditional knock-out mice exhibit rapid retinal degeneration and protein trafficking defects. Hum Mol Genet 27:2012-2024
|
Jamshidi, Farzad; Place, Emily M; Mehrotra, Sudeep et al. (2018) Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degeneration. Genet Med :
|
Barca, Emanuele; Ganetzky, Rebecca D; Potluri, Prasanth et al. (2018) USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis. Hum Mol Genet 27:3305-3312
|
Ba-Abbad, Rola; Leys, Monique; Wang, Xinjing et al. (2018) Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR Gene. Invest Ophthalmol Vis Sci 59:4812-4820
|
Comander, Jason; Weigel-DiFranco, Carol; Maher, Matthew et al. (2017) The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa. Genes (Basel) 8:
|
Men, Clara J; Bujakowska, Kinga M; Comander, Jason et al. (2017) The importance of genetic testing as demonstrated by two cases of CACNA1F-associated retinal generation misdiagnosed as LCA. Mol Vis 23:695-706
|
Bujakowska, Kinga M; Fernandez-Godino, Rosario; Place, Emily et al. (2017) Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations. Genet Med 19:643-651
|
Greenwald, Scott H; Charette, Jeremy R; Staniszewska, Magdalena et al. (2016) Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease. Am J Pathol 186:1925-1938
|
Falk, Marni J; Gai, Xiaowu; Shigematsu, Megumi et al. (2016) A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression. RNA Biol 13:477-85
|
Consugar, Mark B; Navarro-Gomez, Daniel; Place, Emily M et al. (2015) Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing. Genet Med 17:253-261
|
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