Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration

[1] Dias MF(2018)Molecular genetics and emerging therapies for retinitis pigmentosa: Basic research and clinical perspectives Prog Retin Eye Res 63 107-131

[2] Joo K(2017)Clinical progress in inherited retinal degenerations: gene therapy clinical trials and advances in genetic sequencing Retina 37 417-423

[3] Kemp JA(2010)The molecular basis of human retinal and vitreoretinal diseases Prog Retin Eye Res 29 335-375

[4] Fialho SL(2011)Spectrum of rhodopsin mutations in Korean patients with retinitis pigmentosa Mol Vis 17 844-853

[5] da Silva Cunha A(2010)Hereditary and clinical features of retinitis pigmentosa in Koreans J Korean Med Sci 25 918-923

[6] Woo SJ(2015)The diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosa BMC Genom 16 515-1760

[7] Hafler BP(2010)Accurate SNP and mutation detection by targeted custom microarray-based genomic enrichment of short-fragment sequencing libraries Nucleic Acids Res 38 e116-1303

[8] Berger W(2009)Fast and accurate short read alignment with Burrows–Wheeler transform Bioinformatics 25 1754-424

[9] Kloeckener-Gruissem B(2010)The genome analysis toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data Genome Res 20 1297-1076

[10] Neidhardt J(2010)ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data Nucleic Acids Res 38 e164-280

[1] Dias MF(2018)Molecular genetics and emerging therapies for retinitis pigmentosa: Basic research and clinical perspectives Prog Retin Eye Res 63 107-131

[2] Joo K(2017)Clinical progress in inherited retinal degenerations: gene therapy clinical trials and advances in genetic sequencing Retina 37 417-423

[3] Kemp JA(2010)The molecular basis of human retinal and vitreoretinal diseases Prog Retin Eye Res 29 335-375

[4] Fialho SL(2011)Spectrum of rhodopsin mutations in Korean patients with retinitis pigmentosa Mol Vis 17 844-853

[5] da Silva Cunha A(2010)Hereditary and clinical features of retinitis pigmentosa in Koreans J Korean Med Sci 25 918-923

[6] Woo SJ(2015)The diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosa BMC Genom 16 515-1760

[7] Hafler BP(2010)Accurate SNP and mutation detection by targeted custom microarray-based genomic enrichment of short-fragment sequencing libraries Nucleic Acids Res 38 e116-1303

[8] Berger W(2009)Fast and accurate short read alignment with Burrows–Wheeler transform Bioinformatics 25 1754-424

[9] Kloeckener-Gruissem B(2010)The genome analysis toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data Genome Res 20 1297-1076

[10] Neidhardt J(2010)ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data Nucleic Acids Res 38 e164-280