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Proceedings of the National Academy of Sciences of the United States of America|September 18, 2013
Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease geneKoji M Nishiguchi, Richard G Tearle, Yangfan P Liu, et al.Nature Genetics|July 31, 2012
NMNAT1 mutations cause Leber congenital amaurosisMarni J Falk, Qi Zhang, Eiko Nakamaru-Ogiso, et al.Human Mutation|August 16, 2013
Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlationsDonna S Mackay, Arundhati Dev Borman, Ruifang Sui, et al.Pageof 22