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Vishnivetskiy, Sergey A; Sullivan, Lori S; Bowne, Sara J et al. (2018) Molecular Defects of the Disease-Causing Human Arrestin-1 C147F Mutant. Invest Ophthalmol Vis Sci 59:13-20
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Daiger, Stephen P; Bowne, Sara J; Sullivan, Lori S et al. (2018) Molecular Findings in Families with an Initial Diagnose of Autosomal Dominant Retinitis Pigmentosa (adRP). Adv Exp Med Biol 1074:237-245
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Chen, Yong; Zhao, Li; Wang, Yi et al. (2017) SeqCNV: a novel method for identification of copy number variations in targeted next-generation sequencing data. BMC Bioinformatics 18:147
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Jones, Kaylie D; Wheaton, Dianna K; Bowne, Sara J et al. (2017) Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families. Mol Vis 23:470-481
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Daiger, Stephen P (2016) Mutations in Linkage Disequilibrium With Putative Disease-Causing Mutations. Invest Ophthalmol Vis Sci 57:4814
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Fahim, Abigail T; Daiger, Stephen P (2016) The Role of X-Chromosome Inactivation in Retinal Development and Disease. Adv Exp Med Biol 854:325-31
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