rs1064793014 in ABCA4 gene and Retinal Dystrophies

PMID 25066811 2014 Genetic and clinical analysis of ABCA4-associated disease in African American patients.

PMID 22229821 2012 Phenotypic and genetic spectrum of Danish patients with ABCA4-related retinopathy.

PMID 23982839 2013 ABCA4 gene screening by next-generation sequencing in a British cohort.

PMID 25312043 2015 Clinical and molecular characteristics of childhood-onset Stargardt disease.

PMID 9295268 1997 Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

PMID 26872967 2016 Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

PMID 15614537 2005 The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene.

PMID 11328725 2001 An analysis of allelic variation in the ABCA4 gene.

PMID 9973280 1999 Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.

PMID 11594993 2001 Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1).

PMID 10958763 2000 A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.

PMID 9054934 1997 A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.

PMID 9781034 1998 Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.

PMID 10090887 1999 The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease.

PMID 11379881 2001 Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4).

PMID 21911583 2011 Analysis of the ABCA4 gene by next-generation sequencing.

PMID 23918662 2013 Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease.

rs758316679 in ABHD12 gene and Retinal Dystrophies

PMID 22938382 2012 Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3.

rs1052954321 in ALPK1 gene and Retinal Dystrophies

PMID 30967659 2019 ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder.

rs113624356 in BBS1;ZDHHC24 gene and Retinal Dystrophies

PMID 26872967 2016 Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

PMID 12118255 2002 Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.

rs121908180 in BBS2 gene and Retinal Dystrophies

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs1555096248 in BEST1 gene and Retinal Dystrophies

PMID 23290749 2013 Autosomal recessive bestrophinopathy: differential diagnosis and treatment options.

rs1557106557 in CACNA1F gene and Retinal Dystrophies

PMID 25307992 2015 Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.

rs147346345 in CDHR1 gene and Retinal Dystrophies

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

PMID 20087419 2010 Biallelic mutation of protocadherin-21 (PCDH21) causes retinal degeneration in humans.

rs386834158 in CEP290 gene and Retinal Dystrophies

PMID 17564967 2007 CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.

rs121909398 in CERKL gene and Retinal Dystrophies

PMID 14681825 2004 Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26).

PMID 18978954 2008 A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration.

rs397515360 in CNGB3 gene and Retinal Dystrophies

PMID 10888875 2000 Genetic basis of total colourblindness among the Pingelapese islanders.

rs137853137 in CRB1 gene and Retinal Dystrophies

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

PMID 20591486 2010 Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.

PMID 18055820 2007 An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy.

PMID 10508521 1999 Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12).

rs398123575 in EYS gene and Retinal Dystrophies

PMID 26872967 2016 Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

rs200691042 in FAM161A gene and Retinal Dystrophies

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs61750173 in GUCY2D gene and Retinal Dystrophies

PMID 11565546 2001 Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies.

rs112029032 in HGSNAT gene and Retinal Dystrophies

PMID 17033958 2006 Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).

PMID 19479962 2009 Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene.

rs758291149 in IMPG2 gene and Retinal Dystrophies

PMID 20673862 2010 Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.

rs121918244 in IQCB1 gene and Retinal Dystrophies

PMID 15723066 2005 Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.

rs786205121 in KCNV2 gene and Retinal Dystrophies

PMID 21882291 2011 Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response.

rs866395428 in LCA5 gene and Retinal Dystrophies

PMID 25412400 2015 Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.

PMID 23946133 2013 Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.

rs750987123 in PCARE gene and Retinal Dystrophies

PMID 20398886 2010 Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71.

rs869312188 in PHF3;EYS gene and Retinal Dystrophies

PMID 26872967 2016 Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

rs76216585 in POC1B gene and Retinal Dystrophies

PMID 24945461 2014 Novel recessive cone-rod dystrophy caused by POC1B mutation.

PMID 25018096 2014 Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.

PMID 25044745 2014 Mutation of POC1B in a severe syndromic retinal ciliopathy.

rs137853005 in PROM1 gene and Retinal Dystrophies

PMID 26872967 2016 Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

PMID 18654668 2008 Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice.

PMID 22025579 2011 High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy.

PMID 26103963 2015 Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.

PMID 24154662 2014 Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.

PMID 19718270 2009 Cone-rod dystrophy and a frameshift mutation in the PROM1 gene.

PMID 25356976 2015 Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing.

rs869312187 in PRPF31 gene and Retinal Dystrophies

PMID 26872967 2016 Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

rs1554270834 in PRPH2 gene and Retinal Dystrophies

PMID 24608669 2014 Prph2 mutations as a cause of electronegative ERG.

rs782215106 in RBP3 gene and Retinal Dystrophies

PMID 26872967 2016 Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

rs386834261 in RDH12;GPHN;ZFYVE26 gene and Retinal Dystrophies

PMID 15258582 2004 Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.

rs1554824273 in RGR gene and Retinal Dystrophies

PMID 10581022 1999 Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa.

rs1563329888 in RP1 gene and Retinal Dystrophies

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs104894927 in RP2 gene and Retinal Dystrophies

PMID 10053026 1999 Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa.

PMID 12657579 2003 X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15.

rs199683808 in RPE65 gene and Retinal Dystrophies

PMID 18599565 2008 A comprehensive clinical and biochemical functional study of a novel RPE65 hypomorphic mutation.

PMID 9326941 1997 Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy.

rs869312185 in RPGR gene and Retinal Dystrophies

PMID 26872967 2016 Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

rs61752067 in RS1;CDKL5 gene and Retinal Dystrophies

PMID 26872967 2016 Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

rs869312183 in TOPORS gene and Retinal Dystrophies

PMID 26872967 2016 Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

rs727503715 in USH2A gene and Retinal Dystrophies

PMID 17405132 2007 Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients.

PMID 10775529 2000 Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss.

PMID 26872967 2016 Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.