Published in Hum Mol Genet on September 10, 2013
Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome. Hum Mol Genet (2014) 1.09
Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy. Am J Hum Genet (2014) 0.92
Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies. Sci Rep (2015) 0.91
Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family. Mol Vis (2017) 0.75
Effect of gene therapy on visual function in Leber's congenital amaurosis. N Engl J Med (2008) 15.30
BAliBASE 3.0: latest developments of the multiple sequence alignment benchmark. Proteins (2005) 6.57
EGFR and EphA2 are host factors for hepatitis C virus entry and possible targets for antiviral therapy. Nat Med (2011) 6.21
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. Nat Genet (2005) 4.76
Genetic reactivation of cone photoreceptors restores visual responses in retinitis pigmentosa. Science (2010) 3.92
Seven new loci associated with age-related macular degeneration. Nat Genet (2013) 3.81
CX3CR1-dependent subretinal microglia cell accumulation is associated with cardinal features of age-related macular degeneration. J Clin Invest (2007) 3.39
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet (2009) 3.36
Interim results from the international trial of Second Sight's visual prosthesis. Ophthalmology (2012) 3.35
Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait. Nat Rev Genet (2010) 3.20
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. Hum Mutat (2004) 3.07
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet (2011) 3.06
Molecular genetic basis of inherited cataract and associated phenotypes. Surv Ophthalmol (2004) 2.85
Fox's in development and disease. Trends Genet (2003) 2.80
An integrated analysis of the genome of the hyperthermophilic archaeon Pyrococcus abyssi. Mol Microbiol (2003) 2.75
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet (2006) 2.68
Identification and characterization of rod-derived cone viability factor. Nat Genet (2004) 2.63
EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa. Nat Genet (2008) 2.46
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. Am J Hum Genet (2006) 2.44
Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa. Hum Mol Genet (2002) 2.34
Comparative analysis of ribosomal proteins in complete genomes: an example of reductive evolution at the domain scale. Nucleic Acids Res (2002) 2.24
MACSIMS: multiple alignment of complete sequences information management system. BMC Bioinformatics (2006) 2.23
Using spectral-domain optical coherence tomography imaging to identify the presence of retinal silicone oil emulsification after silicone oil tamponade. Retina (2013) 2.22
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. Am J Hum Genet (2004) 2.22
Identification of genes associated with tumorigenesis and metastatic potential of hypopharyngeal cancer by microarray analysis. Oncogene (2004) 2.19
Role of hyaluronidase in diplopia after peribulbar anesthesia for cataract surgery. Ophthalmology (2005) 2.10
The succinate receptor GPR91 in neurons has a major role in retinal angiogenesis. Nat Med (2008) 2.08
Issues in bioinformatics benchmarking: the case study of multiple sequence alignment. Nucleic Acids Res (2010) 2.05
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. Am J Hum Genet (2008) 2.04
Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. Hum Mutat (2007) 2.04
Potential role of microglia in retinal blood vessel formation. Invest Ophthalmol Vis Sci (2006) 1.95
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet (2009) 1.93
Trans-arachidonic acids generated during nitrative stress induce a thrombospondin-1-dependent microvascular degeneration. Nat Med (2005) 1.91
NMNAT1 mutations cause Leber congenital amaurosis. Nat Genet (2012) 1.86
Expression of PRPF31 mRNA in patients with autosomal dominant retinitis pigmentosa: a molecular clue for incomplete penetrance? Invest Ophthalmol Vis Sci (2003) 1.85
Panretinal, high-resolution color photography of the mouse fundus. Invest Ophthalmol Vis Sci (2007) 1.82
Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. Am J Med Genet A (2003) 1.79
Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases. Orphanet J Rare Dis (2012) 1.79
PipeAlign: A new toolkit for protein family analysis. Nucleic Acids Res (2003) 1.78
Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans. Hum Mol Genet (2012) 1.77
Persistence of fundus fluorescence after use of indocyanine green for macular surgery. Ophthalmology (2003) 1.73
Characterization of macular edema from various etiologies by optical coherence tomography. Am J Ophthalmol (2005) 1.71
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. Eur J Hum Genet (2006) 1.69
Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). Invest Ophthalmol Vis Sci (2004) 1.69
Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations. Hum Mutat (2009) 1.67
A comprehensive benchmark study of multiple sequence alignment methods: current challenges and future perspectives. PLoS One (2011) 1.65
Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration. Am J Hum Genet (2006) 1.63
Topography of patchy retinal whitening during acute perfused retinal vein occlusion by optical coherence tomography and adaptive optics fundus imaging. Eur J Ophthalmol (2011) 1.60
Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract. Hum Mutat (2009) 1.60
High resolution fundus imaging by confocal scanning laser ophthalmoscopy in the mouse. Vision Res (2005) 1.59
Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta. Am J Hum Genet (2009) 1.58
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. Orphanet J Rare Dis (2011) 1.57
Foveal damage in habitual poppers users. Arch Ophthalmol (2011) 1.56
Poppers-associated retinal toxicity. N Engl J Med (2010) 1.54
Functional cone rescue by RdCVF protein in a dominant model of retinitis pigmentosa. Mol Ther (2009) 1.53
Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa. Am J Hum Genet (2009) 1.52
Retinopathy of prematurity: understanding ischemic retinal vasculopathies at an extreme of life. J Clin Invest (2010) 1.49
NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype. Hum Mutat (2010) 1.47
Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling. Hum Mutat (2007) 1.44
Inherited retinal degenerations: therapeutic prospects. Biol Cell (2004) 1.44
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. Am J Hum Genet (2005) 1.43
Posterior polymorphous corneal dystrophy in Czech families maps to chromosome 20 and excludes the VSX1 gene. Invest Ophthalmol Vis Sci (2005) 1.42
CCR2(+) monocytes infiltrate atrophic lesions in age-related macular disease and mediate photoreceptor degeneration in experimental subretinal inflammation in Cx3cr1 deficient mice. EMBO Mol Med (2013) 1.42
Novel mutations in MERTK associated with childhood onset rod-cone dystrophy. Mol Vis (2010) 1.41
En Face OCT Imaging for the Diagnosis of Outer Retinal Tubulations in Age-Related Macular Degeneration. J Ophthalmol (2012) 1.39
The evolutionary origin of peroxisomes: an ER-peroxisome connection. Mol Biol Evol (2006) 1.39
EYS is a major gene for rod-cone dystrophies in France. Hum Mutat (2010) 1.39