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Nature Genetics|June 2, 2015
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsiaSusanne Kohl, Ditta Zobor, Wei-Chieh Chiang, 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.Human Genetics|October 25, 2013
Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinementsFeng Wang, Hui Wang, Han-Fang Tuan, et al.Cell|August 7, 2012
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signalingMoumita Chaki, Rannar Airik, Amiya K Ghosh, et al.Pageof 3