Published in Nat Genet on July 01, 1999
Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. Hum Mutat (2001) 3.07
Natural genetic variation caused by small insertions and deletions in the human genome. Genome Res (2011) 3.00
Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families. Invest Ophthalmol Vis Sci (2006) 2.93
STACK: Sequence Tag Alignment and Consensus Knowledgebase. Nucleic Acids Res (2001) 2.85
A comprehensive approach to clustering of expressed human gene sequence: the sequence tag alignment and consensus knowledge base. Genome Res (1999) 2.68
Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa. Am J Hum Genet (2011) 1.85
The retinitis pigmentosa 1 protein is a photoreceptor microtubule-associated protein. J Neurosci (2004) 1.68
Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors. Invest Ophthalmol Vis Sci (2002) 1.58
Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) gene. Proc Natl Acad Sci U S A (2002) 1.51
Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa. Hum Mol Genet (1999) 1.35
Pre-mRNA splicing and retinitis pigmentosa. Mol Vis (2006) 1.32
The evolving doublecortin (DCX) superfamily. BMC Genomics (2006) 1.29
Electrophysiological analysis of visual function in mutant mice. Doc Ophthalmol (2003) 1.22
Dominant mutations in RP1L1 are responsible for occult macular dystrophy. Am J Hum Genet (2010) 1.21
The dynamic cilium in human diseases. Pathogenetics (2009) 1.13
New methods for finding disease-susceptibility genes: impact and potential. Genome Biol (2003) 1.11
GNAT1 associated with autosomal recessive congenital stationary night blindness. Invest Ophthalmol Vis Sci (2012) 1.03
A computational/functional genomics approach for the enrichment of the retinal transcriptome and the identification of positional candidate retinopathy genes. Proc Natl Acad Sci U S A (2002) 1.03
Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci (2013) 1.00
Essential and synergistic roles of RP1 and RP1L1 in rod photoreceptor axoneme and retinitis pigmentosa. J Neurosci (2009) 0.97
Carbonic anhydrase XIV deficiency produces a functional defect in the retinal light response. Proc Natl Acad Sci U S A (2007) 0.95
A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration. Mol Vis (2008) 0.95
Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population. BMC Med Genet (2006) 0.94
Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene. Mol Vis (2003) 0.93
Novel rhodopsin mutations and genotype-phenotype correlation in patients with autosomal dominant retinitis pigmentosa. Br J Ophthalmol (2005) 0.92
Occult macular dystrophy. Jpn J Ophthalmol (2015) 0.89
Detection of novel mutations that cause autosomal dominant retinitis pigmentosa in candidate genes by long-range PCR amplification and next-generation sequencing. Mol Vis (2013) 0.88
A novel mutation of the RP1 gene (Lys778ter) associated with autosomal dominant retinitis pigmentosa. Br J Ophthalmol (2002) 0.88
Differential pattern of RP1 mutations in retinitis pigmentosa. Mol Vis (2010) 0.87
Molecular aspects of retinal degenerative diseases. Cell Mol Neurobiol (2001) 0.86
Individual Differences in Scotopic Visual Acuity and Contrast Sensitivity: Genetic and Non-Genetic Influences. PLoS One (2016) 0.84
The severity of retinal degeneration in Rp1h gene-targeted mice is dependent on genetic background. Invest Ophthalmol Vis Sci (2008) 0.84
Expression of wild-type Rp1 protein in Rp1 knock-in mice rescues the retinal degeneration phenotype. PLoS One (2012) 0.84
Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family. Mol Vis (2012) 0.84
A murine RP1 missense mutation causes protein mislocalization and slowly progressive photoreceptor degeneration. Am J Pathol (2014) 0.82
Genetic factors modifying clinical expression of autosomal dominant RP. Adv Exp Med Biol (2006) 0.81
Retinal dystrophies, genomic applications in diagnosis and prospects for therapy. Transl Pediatr (2015) 0.79
Targeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophy. Biomed Res Int (2015) 0.77
Identification of the RP1 and RP10 (IMPDH1) genes causing autosomal dominant RP. Adv Exp Med Biol (2003) 0.76
Whole exome sequencing identifies a novel NRL mutation in a Chinese family with autosomal dominant retinitis pigmentosa. Mol Vis (2016) 0.75
Use of RNA interference by in utero electroporation to study cortical development: the example of the doublecortin superfamily. Genes (Basel) (2012) 0.75
Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families. Mol Vis (2017) 0.75
Basic local alignment search tool. J Mol Biol (1990) 659.07
A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature (1990) 6.19
Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science (1994) 4.86
Positional cloning of the gene for X-linked retinitis pigmentosa 2. Nat Genet (1998) 4.01
Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8. Genomics (1991) 3.93
Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. Hum Mol Genet (1998) 3.93
Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa. Nat Genet (1993) 3.49
A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3). Nat Genet (1996) 3.31
Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. Nature (1991) 3.00
Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR. Nat Genet (1998) 2.87
A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene. Am J Hum Genet (1998) 2.29
Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa. Proc Natl Acad Sci U S A (1995) 2.10
Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa. Nat Genet (1998) 2.00
Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. DNA Res (1997) 1.87
Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa. Nat Genet (1997) 1.84
Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase. Nat Genet (1995) 1.61
TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa. Nat Genet (1998) 1.60
Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X-linked neuronal migration defects. Hum Mol Genet (1998) 1.09
Genetic mapping of RP1 on 8q11-q21 in an Australian family with autosomal dominant retinitis pigmentosa reduces the critical region to 4 cM between D8S601 and D8S285. Hum Genet (1996) 1.04
Expression and chromosomal localization of KIAA0369, a putative kinase structurally related to Doublecortin. J Hum Genet (1998) 1.00
A new dominant retinal degeneration (Rd4) associated with a chromosomal inversion in the mouse. Genomics (1997) 1.00
Expression of doublecortin correlates with neuronal migration and pattern formation in diverse regions of the developing chick brain. J Neurosci Res (1999) 0.98
Genomic structure, chromosomal mapping, and expression pattern of human DCAMKL1 (KIAA0369), a homologue of DCX (XLIS). Genomics (1999) 0.93
A new family linked to the RP1 dominant retinitis pigmentosa locus on chromosome 8q. J Med Genet (1999) 0.89
No evidence of linkage between the locus for autosomal dominant retinitis pigmentosa and D3S47 (C17) in three Australian families. Hum Genet (1991) 0.85
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet (1989) 5.09
Retinal degeneration mutants in the mouse. Vision Res (2002) 4.93
Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. Nat Genet (1997) 4.87
Is the guinea-pig a rodent? Nature (1991) 4.25
Rhodopsin mutations in autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci U S A (1991) 4.10
Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8. Genomics (1991) 3.93
Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria. Am J Hum Genet (1985) 3.77
A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. Nat Genet (2000) 3.71
Campylobacter pyloridis gastritis I: Detection of urease as a marker of bacterial colonization and gastritis. Am J Gastroenterol (1987) 3.65
Essential iris atrophy, pigment dispersion, and glaucoma in DBA/2J mice. Invest Ophthalmol Vis Sci (1998) 3.61
Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. Nat Genet (2001) 3.15
Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. Hum Mutat (2001) 3.07
Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. Nat Genet (2000) 2.85
Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene. Am J Hum Genet (2001) 2.80
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). Nat Genet (1999) 2.75
Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria. Hum Genet (1987) 2.73
Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness. Nat Genet (2000) 2.70
A comprehensive approach to clustering of expressed human gene sequence: the sequence tag alignment and consensus knowledge base. Genome Res (1999) 2.68
Early-onset severe rod-cone dystrophy in young children with RPE65 mutations. Invest Ophthalmol Vis Sci (2000) 2.67
Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests. Proc Natl Acad Sci U S A (1990) 2.50
Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13). Hum Mol Genet (2001) 2.48
Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration. Invest Ophthalmol Vis Sci (2000) 2.46
Myelinated retinal nerve fibers. Am J Ophthalmol (1981) 2.45
Mutations in MKKS cause Bardet-Biedl syndrome. Nat Genet (2000) 2.45
Determination of cell number in monolayer cultures. Anal Biochem (1986) 2.43
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Eur J Hum Genet (1996) 2.40
The role of inherited TPMT and COMT genetic variation in cisplatin-induced ototoxicity in children with cancer. Clin Pharmacol Ther (2013) 2.40
Apparent heterozygote deficiencies observed in DNA typing data and their implications in forensic applications. Ann Hum Genet (1992) 2.32
Interacting loci cause severe iris atrophy and glaucoma in DBA/2J mice. Nat Genet (1999) 2.30
A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene. Am J Hum Genet (1998) 2.29
Two mouse retinal degenerations caused by missense mutations in the beta-subunit of rod cGMP phosphodiesterase gene. Vision Res (2007) 2.29
Familial renal adysplasia. Am J Kidney Dis (1991) 2.19
Detection of genetic variation with radioactive ligands. III. genetic polymorphism of transcobalamin II in human plasma. Am J Hum Genet (1978) 2.13
Nonsyndromic cleft lip with or without cleft palate: evidence of linkage to BCL3 in 17 multigenerational families. Am J Hum Genet (1995) 2.12
Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation. Nat Genet (2000) 2.10
Human monoamine oxidase A and B genes map to Xp 11.23 and are deleted in a patient with Norrie disease. Genomics (1989) 2.10
Prevalence of AIPL1 mutations in inherited retinal degenerative disease. Mol Genet Metab (2000) 2.07
Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness. Nat Genet (2001) 2.06
Mouse fundus photography and angiography: a catalogue of normal and mutant phenotypes. Mol Vis (1999) 2.04
Genes and mutations causing retinitis pigmentosa. Clin Genet (2013) 2.03
Cleft lip and palate: no evidence of linkage to transforming growth factor alpha. Am J Hum Genet (1991) 1.94
Localization of two genes for Usher syndrome type I to chromosome 11. Genomics (1992) 1.90
An analysis of allelic variation in the ABCA4 gene. Invest Ophthalmol Vis Sci (2001) 1.90
A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese. Nat Genet (1995) 1.90
A deletion in a photoreceptor-specific nuclear receptor mRNA causes retinal degeneration in the rd7 mouse. Proc Natl Acad Sci U S A (2000) 1.88
CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness. Am J Hum Genet (2002) 1.86
Cochlear function in Prestin knockout mice. J Physiol (2004) 1.83
Hereditary multiple exostosis and chondrosarcoma: linkage to chromosome II and loss of heterozygosity for EXT-linked markers on chromosomes II and 8. Am J Hum Genet (1995) 1.82
Transcontinental importation into the UK of Escherichia coli expressing a plasmid-mediated AmpC-type beta-lactamase exposed during an outbreak of SHV-5 extended-spectrum beta-lactamase in a Leeds hospital. J Antimicrob Chemother (1997) 1.82
Autosomal dominant sectoral retinitis pigmentosa. Two families with transversion mutation in codon 23 of rhodopsin. Arch Ophthalmol (1991) 1.81
Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy. Nat Genet (2001) 1.81
The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy. Clin Genet (2004) 1.79
Group-specific component (Gc) proteins bind vitamin D and 25-hydroxyvitamin D. Proc Natl Acad Sci U S A (1975) 1.77
Genetic heterogeneity in families with hereditary multiple exostoses. Am J Hum Genet (1993) 1.77
Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19. Hum Mol Genet (1994) 1.71
Retinal dystrophy of Swedish briard/briard-beagle dogs is due to a 4-bp deletion in RPE65. Genomics (1999) 1.70
Classification of congenital and early onset retinitis pigmentosa. Arch Ophthalmol (1985) 1.67
Resources, attractiveness, family commitment; reproductive decisions in human mate choice. Ethology (1997) 1.65
Linkage of a microsatellite marker to the canine copper toxicosis locus in Bedlington terriers. Am J Vet Res (1997) 1.65
Faddeev calculation of a K- pp quasibound state. Phys Rev Lett (2007) 1.64
Distribution of extracellular matrices, matrix receptors, and transforming growth factor-beta 1 in human and experimental lung granulomatous inflammation. Am J Med Sci (1995) 1.62
High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes. Am J Hum Genet (2000) 1.61
Retinal degeneration 6 (rd6): a new mouse model for human retinitis punctata albescens. Invest Ophthalmol Vis Sci (2000) 1.61
Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes. J Inherit Metab Dis (2001) 1.56
Retinal degeneration but not obesity is observed in null mutants of the tubby-like protein 1 gene. Hum Mol Genet (2000) 1.55
Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications. Hum Mutat (1995) 1.54
Retinitis pigmentosa: genes, proteins and prospects. Dev Ophthalmol (2003) 1.54
Maternal germ-line transmission of mutant mtDNAs from embryonic stem cell-derived chimeric mice. Proc Natl Acad Sci U S A (2000) 1.54
Spinocerebellar ataxia: variable age of onset and linkage to human leukocyte antigen in a large kindred. Ann Neurol (1988) 1.54
Visual acuity impairment in patients with retinitis pigmentosa at age 45 years or older. Ophthalmology (1999) 1.51
X-linked dominant cone-rod degeneration: linkage mapping of a new locus for retinitis pigmentosa (RP 15) to Xp22.13-p22.11. Am J Hum Genet (1995) 1.49
Regulation of airway smooth muscle RhoA/ROCK activities by cholinergic and bronchodilator stimuli. Eur Respir J (2006) 1.48
Genetic heterogeneity among blue-cone monochromats. Am J Hum Genet (1993) 1.47
Fluorescence in situ hybridization deletion mapping at 4p16.3 in bladder cancer cell lines refines the localisation of the critical interval to 30 kb. Genes Chromosomes Cancer (1996) 1.47
Sequences on the human Y chromosome homologous to the autosomal gene for argininosuccinate synthetase. Nature (1982) 1.46
Autosomal dominant retinitis pigmentosa: four new mutations in rhodopsin, one of them in the retinal attachment site. Genomics (1991) 1.46
Cytokine production by synovial T cells in rheumatoid arthritis. Rheumatology (Oxford) (1999) 1.45
Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy. Hum Mol Genet (2001) 1.45
Antibiotic treatment of multidrug-resistant organisms in cystic fibrosis. Am J Respir Med (2003) 1.44
Menkes disease. New ocular and electroretinographic findings. Ophthalmology (1998) 1.42
Autosomal dominant retinitis pigmentosa with apparent incomplete penetrance: a clinical, electrophysiological, psychophysical, and molecular genetic study. Br J Ophthalmol (1993) 1.41
Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa. Genomics (1995) 1.38
Mouse models of ocular diseases. Vis Neurosci (2005) 1.37
Multilocus linkage analysis with the human argininosuccinate synthetase gene. Genomics (1989) 1.36
Localization of retina/pineal-expressed sequences: identification of novel candidate genes for inherited retinal disorders. Genomics (1999) 1.36
The human apolipoprotein B-100 gene: a highly polymorphic gene that maps to the short arm of chromosome 2. Biochem Biophys Res Commun (1985) 1.36
Autosomal dominant retinitis pigmentosa: absence of the rhodopsin proline----histidine substitution (codon 23) in pedigrees from Europe. Am J Hum Genet (1990) 1.36
Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa. Hum Mol Genet (1999) 1.35