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A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration. Proc Natl Acad Sci U S A (2005) 13.44

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The role of inflammation in the pathogenesis of age-related macular degeneration. Surv Ophthalmol (2006) 3.60

A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration. Proc Natl Acad Sci U S A (2007) 3.50

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Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration. Am J Hum Genet (2005) 3.19

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Vascular endothelial growth factor in eye disease. Prog Retin Eye Res (2008) 2.73

Unraveling a multifactorial late-onset disease: from genetic susceptibility to disease mechanisms for age-related macular degeneration. Annu Rev Genomics Hum Genet (2009) 2.40

Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin. Brain (2011) 2.15

Photoreceptors of Nrl -/- mice coexpress functional S- and M-cone opsins having distinct inactivation mechanisms. J Gen Physiol (2005) 1.99

Targeted disruption of fibulin-4 abolishes elastogenesis and causes perinatal lethality in mice. Mol Cell Biol (2006) 1.97

An update on the genetics of age-related macular degeneration. Mol Vis (2007) 1.95

Apolipoprotein E allele-dependent pathogenesis: a model for age-related retinal degeneration. Proc Natl Acad Sci U S A (2005) 1.92

Extracellular matrix molecules: potential targets in pharmacotherapy. Pharmacol Rev (2009) 1.90

Anti-amyloid therapy protects against retinal pigmented epithelium damage and vision loss in a model of age-related macular degeneration. Proc Natl Acad Sci U S A (2011) 1.56

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Fibulin-5 interacts with fibrillin-1 molecules and microfibrils. Biochem J (2005) 1.41

Retinal ultrastructure of murine models of dry age-related macular degeneration (AMD). Prog Retin Eye Res (2010) 1.39

Altered vascular remodeling in fibulin-5-deficient mice reveals a role of fibulin-5 in smooth muscle cell proliferation and migration. Proc Natl Acad Sci U S A (2005) 1.37

Detection of CX3CR1 single nucleotide polymorphism and expression on archived eyes with age-related macular degeneration. Histol Histopathol (2005) 1.32

Retinal remodeling. Jpn J Ophthalmol (2012) 1.32

Fibulin-4 conducts proper elastogenesis via interaction with cross-linking enzyme lysyl oxidase. Proc Natl Acad Sci U S A (2009) 1.30

Common variation in the SERPING1 gene is not associated with age-related macular degeneration in two independent groups of subjects. Mol Vis (2009) 1.26

Age-related macular degeneration: genetic and environmental factors of disease. Mol Interv (2010) 1.24

Fibulin-5 binds human smooth-muscle cells through alpha5beta1 and alpha4beta1 integrins, but does not support receptor activation. Biochem J (2007) 1.21

The influence of genetics on response to treatment with ranibizumab (Lucentis) for age-related macular degeneration: the Lucentis Genotype Study (an American Ophthalmological Society thesis). Trans Am Ophthalmol Soc (2011) 1.18

Epistatic module detection for case-control studies: a Bayesian model with a Gibbs sampling strategy. PLoS Genet (2009) 1.17

Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa. Hum Mutat (2006) 1.17

Complement activation and choriocapillaris loss in early AMD: implications for pathophysiology and therapy. Prog Retin Eye Res (2014) 1.17

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Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice. Am J Hum Genet (2009) 1.16

A functional mutation in the terminal exon of elastin in severe, early-onset chronic obstructive pulmonary disease. Am J Respir Cell Mol Biol (2005) 1.14

Mechanism of inflammation in age-related macular degeneration. Mediators Inflamm (2012) 1.14

Fibulin-5, an integrin-binding matricellular protein: its function in development and disease. J Cell Commun Signal (2009) 1.11

LOC387715/HTRA1 gene polymorphisms and susceptibility to age-related macular degeneration: A HuGE review and meta-analysis. Mol Vis (2010) 1.11

Unraveling the mechanism of elastic fiber assembly: The roles of short fibulins. Int J Biochem Cell Biol (2010) 1.08

Polymorphism p.402Y>H in the complement factor H protein is a risk factor for age related macular degeneration in an Italian population. Br J Ophthalmol (2006) 1.06

Elovl4 5-bp deletion knock-in mouse model for Stargardt-like macular degeneration demonstrates accumulation of ELOVL4 and lipofuscin. Exp Eye Res (2009) 1.05

Large-scale candidate gene analysis of HDL particle features. PLoS One (2011) 1.04

Prediction of age-related macular degeneration in the general population: the Three Continent AMD Consortium. Ophthalmology (2013) 1.02

Progress in defining the molecular biology of age related macular degeneration. Hum Genet (2007) 1.01

Increased choroidal neovascularization following laser induction in mice lacking lysyl oxidase-like 1. Invest Ophthalmol Vis Sci (2008) 1.01

Deletion of the p85alpha regulatory subunit of phosphoinositide 3-kinase in cone photoreceptor cells results in cone photoreceptor degeneration. Invest Ophthalmol Vis Sci (2011) 1.00

A genome-wide association study for primary open angle glaucoma and macular degeneration reveals novel Loci. PLoS One (2013) 0.97

Fibulin-4 and fibulin-5 in elastogenesis and beyond: Insights from mouse and human studies. Matrix Biol (2014) 0.96

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Insulin receptor signaling in cones. J Biol Chem (2013) 0.95

Fibulin-5 is up-regulated by hypoxia in endothelial cells through a hypoxia-inducible factor-1 (HIF-1α)-dependent mechanism. J Biol Chem (2010) 0.94

Elastin-mediated choroidal endothelial cell migration: possible role in age-related macular degeneration. Invest Ophthalmol Vis Sci (2008) 0.93

Age-related macular degeneration and recent developments: new hope for old eyes? Postgrad Med J (2007) 0.91

Quantitative proteomics analysis of chondrogenic differentiation of C3H10T1/2 mesenchymal stem cells by iTRAQ labeling coupled with on-line two-dimensional LC/MS/MS. Mol Cell Proteomics (2009) 0.91

Genetic mechanisms and age-related macular degeneration: common variants, rare variants, copy number variations, epigenetics, and mitochondrial genetics. Hum Genomics (2012) 0.90

Association of CFH, LOC387715, and HTRA1 polymorphisms with exudative age-related macular degeneration in a northern Chinese population. Mol Vis (2008) 0.90

Retinal pigment epithelial cells synthesize laminins, including laminin 5, and adhere to them through alpha3- and alpha6-containing integrins. Invest Ophthalmol Vis Sci (2006) 0.90

Fibulin-5 distribution in human eyes: relevance to age-related macular degeneration. Exp Eye Res (2006) 0.89

Genetic loci that control the size of laser-induced choroidal neovascularization. FASEB J (2009) 0.89

Unfolding the Therapeutic Potential of Chemical Chaperones for Age-related Macular Degeneration. Expert Rev Ophthalmol (2008) 0.89

Translational attenuation differentially alters the fate of disease-associated fibulin proteins. FASEB J (2012) 0.88

Age-related macular degeneration and changes in the extracellular matrix. Med Sci Monit (2014) 0.88

Analysis of rare variants in the C3 gene in patients with age-related macular degeneration. PLoS One (2014) 0.87

Interaction of complement factor h and fibulin3 in age-related macular degeneration. PLoS One (2013) 0.86

Complement factor H gene polymorphisms and Chlamydia pneumoniae infection in age-related macular degeneration. Eye (Lond) (2009) 0.85

Risk factors and biomarkers of age-related macular degeneration. Prog Retin Eye Res (2016) 0.85

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Mouse genetics and proteomic analyses demonstrate a critical role for complement in a model of DHRD/ML, an inherited macular degeneration. Hum Mol Genet (2013) 0.83

New era for personalized medicine: the diagnosis and management of age-related macular degeneration. Clin Experiment Ophthalmol (2009) 0.83

Structural effects of fibulin 5 missense mutations associated with age-related macular degeneration and cutis laxa. Invest Ophthalmol Vis Sci (2009) 0.83

Treatment of age-related macular degeneration: beyond VEGF. Jpn J Ophthalmol (2010) 0.83

Update on the role of genetics in the onset of age-related macular degeneration. Clin Ophthalmol (2011) 0.83

Dysfunction in elastic fiber formation in fibulin-5 null mice abrogates the evolution in mechanical response of carotid arteries during maturation. Am J Physiol Heart Circ Physiol (2012) 0.83

Fibulin 5 forms a compact dimer in physiological solutions. J Biol Chem (2009) 0.83

Fibulin-5 expression is decreased in women with anterior vaginal wall prolapse. Int Urogynecol J Pelvic Floor Dysfunct (2008) 0.82

C1q enhances cone photoreceptor survival in a mouse model of autosomal recessive retinitis pigmentosa. Eur J Hum Genet (2011) 0.82

The proteomics of drusen. Cold Spring Harb Perspect Med (2014) 0.80

Fibulin 2, a tyrosine O-sulfated protein, is up-regulated following retinal detachment. J Biol Chem (2014) 0.80

Age-related macular degeneration: experimental and emerging treatments. Clin Ophthalmol (2009) 0.80

Differential tolerance of 'pseudo-pathogenic' tryptophan residues in calcium-binding EGF domains of short fibulin proteins. Exp Eye Res (2014) 0.79

Next-generation therapeutic solutions for age-related macular degeneration. Pharm Pat Anal (2012) 0.79

Genetic basis of inherited macular dystrophies and implications for stem cell therapy. Stem Cells (2009) 0.78

Simvastatin Increases Fibulin-2 Expression in Human Coronary Artery Smooth Muscle Cells via RhoA/Rho-Kinase Signaling Pathway Inhibition. PLoS One (2015) 0.77

[Y402H polymorphism in complement factor H and age-related macula degeneration (AMD)]. Ophthalmologe (2005) 0.77

Age-related macular degeneration and the extracellular matrix. N Engl J Med (2004) 0.76

Cell-Specific Promoters Enable Lipid-Based Nanoparticles to Deliver Genes to Specific Cells of the Retina In Vivo. Theranostics (2016) 0.76

Senile panretinal cone dysfunction in age-related macular degeneration (AMD): a report of 52 amd patients compared to age-matched controls. Trans Am Ophthalmol Soc (2006) 0.76

The p110α isoform of phosphoinositide 3-kinase is essential for cone photoreceptor survival. Biochimie (2015) 0.76

Breaking barriers: insight into the pathogenesis of neovascular age-related macular degeneration. Eye Brain (2011) 0.76

Whole Exome Sequencing in Patients with the Cuticular Drusen Subtype of Age-Related Macular Degeneration. PLoS One (2016) 0.76

Role of tyrosine-sulfated proteins in retinal structure and function. Exp Eye Res (2015) 0.75

Clinically detectable drusen domains in fibulin-5-associated age-related macular degeneration (AMD) : Drusen subdomains in fibulin-5 AMD. Int Ophthalmol (2015) 0.75

Indocyanine green angiography features of Malattia leventinese. Br J Ophthalmol (2006) 0.75

Highly penetrant alleles in age-related macular degeneration. Cold Spring Harb Perspect Med (2014) 0.75

Mutation of fibulin-1 causes a novel syndrome involving the central nervous system and connective tissues. Eur J Hum Genet (2013) 0.75

The complexities underlying age-related macular degeneration: could amyloid beta play an important role? Neural Regen Res (2017) 0.75

Functional impact of global rare copy number variation in autism spectrum disorders. Nature (2010) 14.66

A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration. Proc Natl Acad Sci U S A (2005) 13.44

Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Nat Genet (2011) 13.25

A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. Cell (2007) 10.75

Automated 3-D intraretinal layer segmentation of macular spectral-domain optical coherence tomography images. IEEE Trans Med Imaging (2009) 4.96

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Ranibizumab versus bevacizumab to treat neovascular age-related macular degeneration: one-year findings from the IVAN randomized trial. Ophthalmology (2012) 4.70

Alternative treatments to inhibit VEGF in age-related choroidal neovascularisation: 2-year findings of the IVAN randomised controlled trial. Lancet (2013) 4.35

Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). Proc Natl Acad Sci U S A (2006) 4.16

Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell (2011) 3.95

Seven new loci associated with age-related macular degeneration. Nat Genet (2013) 3.81

Intraretinal layer segmentation of macular optical coherence tomography images using optimal 3-D graph search. IEEE Trans Med Imaging (2008) 3.68

A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet (2010) 3.42

A BBSome subunit links ciliogenesis, microtubule stability, and acetylation. Dev Cell (2008) 3.17

Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin. Proc Natl Acad Sci U S A (2004) 3.11

Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly. Proc Natl Acad Sci U S A (2004) 3.01

Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Nat Genet (2002) 2.94

Regulation of gene expression in the mammalian eye and its relevance to eye disease. Proc Natl Acad Sci U S A (2006) 2.91

Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma. Nat Genet (2010) 2.75

Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3). Am J Hum Genet (2004) 2.67

Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia. Nat Genet (2002) 2.63

Discovery of five conserved beta -defensin gene clusters using a computational search strategy. Proc Natl Acad Sci U S A (2002) 2.56

Individual common variants exert weak effects on the risk for autism spectrum disorderspi. Hum Mol Genet (2012) 2.46

Aflibercept therapy for exudative age-related macular degeneration resistant to bevacizumab and ranibizumab. Am J Ophthalmol (2013) 2.45

Primary cilia membrane assembly is initiated by Rab11 and transport protein particle II (TRAPPII) complex-dependent trafficking of Rabin8 to the centrosome. Proc Natl Acad Sci U S A (2011) 2.44

LOXL1 mutations are associated with exfoliation syndrome in patients from the midwestern United States. Am J Ophthalmol (2007) 2.43

A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity. Proc Natl Acad Sci U S A (2007) 2.36

Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function. Hum Mol Genet (2006) 2.32

Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene. Am J Hum Genet (2005) 2.25

Recommendations for genetic testing of inherited eye diseases: report of the American Academy of Ophthalmology task force on genetic testing. Ophthalmology (2012) 2.21

Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling. Hum Mol Genet (2009) 2.16

BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. Proc Natl Acad Sci U S A (2010) 2.09

Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome. J Clin Invest (2008) 2.07

Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome. Hum Mol Genet (2005) 2.04

An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium. Genes Dev (2011) 2.00

Evaluation of a system for automatic detection of diabetic retinopathy from color fundus photographs in a large population of patients with diabetes. Diabetes Care (2007) 1.98

Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination. Hum Mol Genet (2003) 1.98

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol (2014) 1.95

Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa. Proc Natl Acad Sci U S A (2011) 1.87

Transcriptional patterns in both host and bacterium underlie a daily rhythm of anatomical and metabolic change in a beneficial symbiosis. Proc Natl Acad Sci U S A (2010) 1.82

Copy number variations on chromosome 12q14 in patients with normal tension glaucoma. Hum Mol Genet (2011) 1.74

The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration. Proc Natl Acad Sci U S A (2002) 1.73

Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. Am J Hum Genet (2009) 1.72

Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma. J Clin Invest (2011) 1.69

Advancing genetic testing for deafness with genomic technology. J Med Genet (2013) 1.66

Insights into a dinoflagellate genome through expressed sequence tag analysis. BMC Genomics (2005) 1.65

Evaluation of the chromosome 2q37.3 gene CENTG2 as an autism susceptibility gene. Am J Med Genet B Neuropsychiatr Genet (2005) 1.64

Myocilin glaucoma. Surv Ophthalmol (2002) 1.63

Common genetic variants associated with open-angle glaucoma. Hum Mol Genet (2011) 1.58

Automated detection and differentiation of drusen, exudates, and cotton-wool spots in digital color fundus photographs for diabetic retinopathy diagnosis. Invest Ophthalmol Vis Sci (2007) 1.58

Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. Am J Hum Genet (2009) 1.53

Differential macular and peripheral expression of bestrophin in human eyes and its implication for best disease. Invest Ophthalmol Vis Sci (2007) 1.53

A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened. PLoS Genet (2011) 1.49

Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus. Genet Med (2008) 1.49

Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1. Am J Hum Genet (2011) 1.49

Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia. Proc Natl Acad Sci U S A (2008) 1.49

Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. Nat Genet (2013) 1.49

A mouse model of osteochondromagenesis from clonal inactivation of Ext1 in chondrocytes. Proc Natl Acad Sci U S A (2009) 1.47

Macular and peripheral distribution of ICAM-1 in the human choriocapillaris and retina. Mol Vis (2006) 1.46

Migration of the plastid genome to the nucleus in a peridinin dinoflagellate. Curr Biol (2004) 1.45

Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning. Hum Mol Genet (2008) 1.44

Glaucoma-causing myocilin mutants require the Peroxisomal targeting signal-1 receptor (PTS1R) to elevate intraocular pressure. Hum Mol Genet (2007) 1.44

Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma. Am J Ophthalmol (2003) 1.43

Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome. J Biol Chem (2012) 1.42

Association of HLA class I and class II polymorphisms with age-related macular degeneration. Invest Ophthalmol Vis Sci (2005) 1.40

Quantifying disrupted outer retinal-subretinal layer in SD-OCT images in choroidal neovascularization. Invest Ophthalmol Vis Sci (2014) 1.39

Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration. Invest Ophthalmol Vis Sci (2006) 1.39

Increased expression of the WNT antagonist sFRP-1 in glaucoma elevates intraocular pressure. J Clin Invest (2008) 1.39

Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration. Hum Mol Genet (2004) 1.36

Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy. Ophthalmology (2012) 1.34

ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting. Proc Natl Acad Sci U S A (2012) 1.34

Patient-specific iPSC-derived photoreceptor precursor cells as a means to investigate retinitis pigmentosa. Elife (2013) 1.33

BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes. Hum Mol Genet (2012) 1.33

Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes. Proc Natl Acad Sci U S A (2011) 1.32

A constrained-likelihood approach to marker-trait association studies. Am J Hum Genet (2005) 1.32

Effects of colonization, luminescence, and autoinducer on host transcription during development of the squid-vibrio association. Proc Natl Acad Sci U S A (2008) 1.32

A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene. Am J Ophthalmol (2003) 1.30

Identifying components of the NF-kappaB pathway in the beneficial Euprymna scolopes-Vibrio fischeri light organ symbiosis. Appl Environ Microbiol (2005) 1.30

Variations in the myocilin gene in patients with open-angle glaucoma. Arch Ophthalmol (2002) 1.28

Gene expression analysis of photoreceptor cell loss in bbs4-knockout mice reveals an early stress gene response and photoreceptor cell damage. Invest Ophthalmol Vis Sci (2007) 1.28

Genome-wide identification of pseudogenes capable of disease-causing gene conversion. Hum Mutat (2006) 1.27

Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease. Hum Mol Genet (2013) 1.27

Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). Am J Hum Genet (2003) 1.27

Complement component C5a activates ICAM-1 expression on human choroidal endothelial cells. Invest Ophthalmol Vis Sci (2010) 1.26

Evaluation of FOXP2 as an autism susceptibility gene. Am J Med Genet (2002) 1.25

Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy. Ophthalmic Genet (2008) 1.24

Automated early detection of diabetic retinopathy. Ophthalmology (2010) 1.24

Elevated membrane attack complex in human choroid with high risk complement factor H genotypes. Exp Eye Res (2011) 1.21

High-density rat radiation hybrid maps containing over 24,000 SSLPs, genes, and ESTs provide a direct link to the rat genome sequence. Genome Res (2004) 1.21