Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variants

[1] Verbakel SK(2018)Non-syndromic retinitis pigmentosa Prog Retin Eye Res 66 157-186

[2] van Huet RAC(2006)Retinitis Pigmentosa Lancet 368 1795-1809

[3] Boon CJF(2017)The phenotypic variability of HK1-associated retinal dystrophy Sci Rep 7 017-07629

[4] den Hollander AI(2014)The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype Invest Ophthalmol Vis Sci 55 6934-6944

[5] Collin RWJ(2019)Genomic landscape of sporadic Retinitis Pigmentosa: findings from 877 Spanish Cases Ophthalmology 126 1181-1188

[6] Klaver CCW(2017)Unravelling the genetic basis of simplex Retinitis Pigmentosa cases Sci Rep 7 41937-1416

[7] Hoyng CB(2018)Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa PLoS ONE 13 e0207958-481

[8] Roepman R(2013)Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa Invest Ophthalmol Vis Sci 54 1411-1522

[9] Klevering BJ(2017)Next-generation sequencing to solve complex inherited retinal dystrophy: a case series of multiple genes contributing to disease in extended families Mol Vis 23 470-29

[10] Hartong DT(2018)Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees J Transl Med 16 018-131

[1] Verbakel SK(2018)Non-syndromic retinitis pigmentosa Prog Retin Eye Res 66 157-186

[2] van Huet RAC(2006)Retinitis Pigmentosa Lancet 368 1795-1809

[3] Boon CJF(2017)The phenotypic variability of HK1-associated retinal dystrophy Sci Rep 7 017-07629

[4] den Hollander AI(2014)The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype Invest Ophthalmol Vis Sci 55 6934-6944

[5] Collin RWJ(2019)Genomic landscape of sporadic Retinitis Pigmentosa: findings from 877 Spanish Cases Ophthalmology 126 1181-1188

[6] Klaver CCW(2017)Unravelling the genetic basis of simplex Retinitis Pigmentosa cases Sci Rep 7 41937-1416

[7] Hoyng CB(2018)Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa PLoS ONE 13 e0207958-481

[8] Roepman R(2013)Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa Invest Ophthalmol Vis Sci 54 1411-1522

[9] Klevering BJ(2017)Next-generation sequencing to solve complex inherited retinal dystrophy: a case series of multiple genes contributing to disease in extended families Mol Vis 23 470-29

[10] Hartong DT(2018)Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees J Transl Med 16 018-131