Published in Invest Ophthalmol Vis Sci on July 01, 2011
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Noninvasive imaging of the human rod photoreceptor mosaic using a confocal adaptive optics scanning ophthalmoscope. Biomed Opt Express (2011) 3.21
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Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract. Invest Ophthalmol Vis Sci (2009) 2.54
Organization of the human trichromatic cone mosaic. J Neurosci (2005) 2.42
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Eur J Hum Genet (2005) 2.37
Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa. Hum Mol Genet (2002) 2.34
Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. J Clin Invest (2008) 2.24
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Outer retinal structure in best vitelliform macular dystrophy. JAMA Ophthalmol (2013) 2.15
Revealing Henle's fiber layer using spectral domain optical coherence tomography. Invest Ophthalmol Vis Sci (2011) 2.14
High-resolution retinal imaging of cone-rod dystrophy. Ophthalmology (2006) 2.13
Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. Am J Hum Genet (2002) 2.10
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Metamorphopsia assessment before and after vitrectomy for macular hole. Invest Ophthalmol Vis Sci (2009) 2.07
Adaptive optics optical coherence tomography at 120,000 depth scans/s for non-invasive cellular phenotyping of the living human retina. Opt Express (2009) 1.96
The locus of fixation and the foveal cone mosaic. J Vis (2005) 1.96
Adaptive optics flood-illumination camera for high speed retinal imaging. Opt Express (2006) 1.92
Adaptive optics retinal imaging reveals S-cone dystrophy in tritan color-vision deficiency. J Opt Soc Am A Opt Image Sci Vis (2007) 1.91
NMNAT1 mutations cause Leber congenital amaurosis. Nat Genet (2012) 1.86
Race- and sex-related differences in retinal thickness and foveal pit morphology. Invest Ophthalmol Vis Sci (2011) 1.76
Repeatability of in vivo parafoveal cone density and spacing measurements. Optom Vis Sci (2012) 1.71
Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8. Invest Ophthalmol Vis Sci (2007) 1.70
Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). Invest Ophthalmol Vis Sci (2004) 1.69
Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans. Am J Hum Genet (2009) 1.68
Development of a genotyping microarray for Usher syndrome. J Med Genet (2006) 1.63
Incidence of legal blindness from age-related macular degeneration in denmark: year 2000 to 2010. Am J Ophthalmol (2012) 1.63
Arrested development: high-resolution imaging of foveal morphology in albinism. Vision Res (2010) 1.62
Photoreceptor structure and function in patients with congenital achromatopsia. Invest Ophthalmol Vis Sci (2011) 1.61
Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract. Hum Mutat (2009) 1.60
Retinal atrophy in idiopathic central serous chorioretinopathy. Am J Ophthalmol (2002) 1.60
Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta. Am J Hum Genet (2009) 1.58
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A nationwide Danish study of 1027 cases of congenital/infantile cataracts: etiological and clinical classifications. Ophthalmology (2004) 1.56
Functional characteristics of patients with retinal dystrophy that manifest abnormal parafoveal annuli of high density fundus autofluorescence; a review and update. Doc Ophthalmol (2007) 1.56
Complement factor H variant Y402H is a major risk determinant for geographic atrophy and choroidal neovascularization in smokers and nonsmokers. Invest Ophthalmol Vis Sci (2006) 1.56
Comorbidity in patients with branch retinal vein occlusion: case-control study. BMJ (2012) 1.56
Rates of progression in diabetic retinopathy during different time periods: a systematic review and meta-analysis. Diabetes Care (2009) 1.55
Color perception is mediated by a plastic neural mechanism that is adjustable in adults. Neuron (2002) 1.55
Cone photoreceptor mosaic disruption associated with Cys203Arg mutation in the M-cone opsin. Proc Natl Acad Sci U S A (2009) 1.54
Adaptive optics retinal imaging: emerging clinical applications. Optom Vis Sci (2010) 1.53
Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism. Am J Hum Genet (2013) 1.53
Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II. Hum Mutat (2008) 1.53
Evaluation of prevalence and clinical implications of anthelmintic resistance in gastrointestinal nematodes in goats. J Am Vet Med Assoc (2003) 1.51
Polymicrogyria and absence of pineal gland due to PAX6 mutation. Ann Neurol (2003) 1.50
Subfoveal choroidal thickness in relation to sex and axial length in 93 Danish university students. Invest Ophthalmol Vis Sci (2011) 1.50
Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies. Hum Mutat (2002) 1.48
Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutations. Invest Ophthalmol Vis Sci (2009) 1.47
Variable optical activation of human cone photoreceptors visualized using a short coherence light source. Opt Lett (2009) 1.45
Choroidal imaging in inherited retinal disease using the technique of enhanced depth imaging optical coherence tomography. Graefes Arch Clin Exp Ophthalmol (2010) 1.44
Spatial and temporal variation of rod photoreceptor reflectance in the human retina. Biomed Opt Express (2011) 1.43
Phenotypic variation in enhanced S-cone syndrome. Invest Ophthalmol Vis Sci (2008) 1.43
A mutant connexin50 with enhanced hemichannel function leads to cell death. Invest Ophthalmol Vis Sci (2009) 1.43
Retinal imaging using commercial broadband optical coherence tomography. Br J Ophthalmol (2009) 1.42
Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis. Am J Hum Genet (2011) 1.42
Novel mutations in MERTK associated with childhood onset rod-cone dystrophy. Mol Vis (2010) 1.41
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[Photopsies can have other causes than retinal detachment]. Ugeskr Laeger (2004) 1.39
Identification of a rare coding variant in complement 3 associated with age-related macular degeneration. Nat Genet (2013) 1.39
Statistical modeling of global geogenic fluoride contamination in groundwaters. Environ Sci Technol (2008) 1.35
Retinal structure, function, and molecular pathologic features in gyrate atrophy. Ophthalmology (2011) 1.33
Retinal microscotomas revealed with adaptive-optics microflashes. Invest Ophthalmol Vis Sci (2006) 1.32
MiRP1 modulates HCN2 channel expression and gating in cardiac myocytes. J Biol Chem (2004) 1.31
In vivo imaging of human retinal microvasculature using adaptive optics scanning light ophthalmoscope fluorescein angiography. Biomed Opt Express (2013) 1.31
Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome. Am J Hum Genet (2006) 1.30
The negative ERG: clinical phenotypes and disease mechanisms of inner retinal dysfunction. Surv Ophthalmol (2008) 1.29
Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1. Br J Ophthalmol (2010) 1.28
High-resolution images of retinal structure in patients with choroideremia. Invest Ophthalmol Vis Sci (2013) 1.27
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. Eur J Hum Genet (2010) 1.27
Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations. Hum Genet (2005) 1.27
Increasing the complexity: new genes and new types of albinism. Pigment Cell Melanoma Res (2013) 1.27
Variety of genotypes in males diagnosed as dichromatic on a conventional clinical anomaloscope. Vis Neurosci (2004) 1.26
Spectral domain optical coherence tomography and adaptive optics: imaging photoreceptor layer morphology to interpret preclinical phenotypes. Adv Exp Med Biol (2010) 1.25
An international collaborative family-based whole-genome linkage scan for high-grade myopia. Invest Ophthalmol Vis Sci (2009) 1.25