A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.

In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse. Hum Mol Genet (2006) 3.90

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet (2009) 3.36

Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait. Nat Rev Genet (2010) 3.20

Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa. Proc Natl Acad Sci U S A (2012) 2.12

RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa. Am J Hum Genet (2003) 1.83

RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins. J Biol Chem (2005) 1.67

Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci (2013) 1.60

RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa. J Med Genet (2005) 1.56

Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease. Invest Ophthalmol Vis Sci (2012) 1.47

Inner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations. Invest Ophthalmol Vis Sci (2007) 1.37

Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins. Cilia (2012) 1.27

The retinitis pigmentosa protein RP2 interacts with polycystin 2 and regulates cilia-mediated vertebrate development. Hum Mol Genet (2010) 1.20

Rd9 is a naturally occurring mouse model of a common form of retinitis pigmentosa caused by mutations in RPGR-ORF15. PLoS One (2012) 1.19

Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration. Hum Mol Genet (2010) 1.18

Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations. PLoS One (2011) 1.16

Protein sorting, targeting and trafficking in photoreceptor cells. Prog Retin Eye Res (2013) 1.13

Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing. Hum Genet (2014) 1.13

Interaction of ciliary disease protein retinitis pigmentosa GTPase regulator with nephronophthisis-associated proteins in mammalian retinas. Mol Vis (2010) 1.11

Human retinopathy-associated ciliary protein retinitis pigmentosa GTPase regulator mediates cilia-dependent vertebrate development. Hum Mol Genet (2010) 1.11

Advances in gene therapy technologies to treat retinitis pigmentosa. Clin Ophthalmol (2013) 1.10

Retinitis Pigmentosa GTPase Regulator (RPGR) protein isoforms in mammalian retina: insights into X-linked Retinitis Pigmentosa and associated ciliopathies. Vision Res (2007) 1.08

The Drosophila Dead end Arf-like3 GTPase controls vesicle trafficking during tracheal fusion cell morphogenesis. Dev Biol (2007) 1.08

Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing. Mol Vis (2008) 1.05

Identification of novel murine- and human-specific RPGRIP1 splice variants with distinct expression profiles and subcellular localization. Invest Ophthalmol Vis Sci (2005) 1.05

Biology and therapy of inherited retinal degenerative disease: insights from mouse models. Dis Model Mech (2015) 1.05

Insights into X-linked retinitis pigmentosa type 3, allied diseases and underlying pathomechanisms. Hum Mol Genet (2005) 1.04

Ablation of the X-linked retinitis pigmentosa 2 (Rp2) gene in mice results in opsin mislocalization and photoreceptor degeneration. Invest Ophthalmol Vis Sci (2013) 1.02

Analysis of six candidate genes as potential modifiers of disease expression in canine XLPRA1, a model for human X-linked retinitis pigmentosa 3. Mol Vis (2007) 1.02

Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci (2013) 1.00

Age-dependent disease expression determines remodeling of the retinal mosaic in carriers of RPGR exon ORF15 mutations. Invest Ophthalmol Vis Sci (2009) 1.00

Loss of RPGR glutamylation underlies the pathogenic mechanism of retinal dystrophy caused by TTLL5 mutations. Proc Natl Acad Sci U S A (2016) 0.96

RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa. Arch Ophthalmol (2010) 0.95

Gene therapeutic approach using mutation-adapted U1 snRNA to correct a RPGR splice defect in patient-derived cells. Mol Ther (2011) 0.95

RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction. J Genet (2009) 0.94

Ciliary transition zone (TZ) proteins RPGR and CEP290: role in photoreceptor cilia and degenerative diseases. Expert Opin Ther Targets (2012) 0.94

Interaction and localization of the retinitis pigmentosa protein RP2 and NSF in retinal photoreceptor cells. Biochemistry (2010) 0.94

Mistrafficking of prenylated proteins causes retinitis pigmentosa 2. FASEB J (2014) 0.93

An atypical phenotype of macular and peripapillary retinal atrophy caused by a mutation in the RP2 gene. Br J Ophthalmol (2004) 0.93

Multiprotein complexes of Retinitis Pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in X-linked Retinitis Pigmentosa (XLRP). Adv Exp Med Biol (2010) 0.93

Functional analysis of retinitis pigmentosa 2 (RP2) protein reveals variable pathogenic potential of disease-associated missense variants. PLoS One (2011) 0.92

Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells. Hum Mol Genet (2014) 0.92

Limited proteolysis differentially modulates the stability and subcellular localization of domains of RPGRIP1 that are distinctly affected by mutations in Leber's congenital amaurosis. Hum Mol Genet (2005) 0.92

Four-year placebo-controlled trial of docosahexaenoic acid in X-linked retinitis pigmentosa (DHAX trial): a randomized clinical trial. JAMA Ophthalmol (2014) 0.90

Mapping a new genetic locus for X linked retinitis pigmentosa to Xq28. J Med Genet (2006) 0.89

A new genetic locus for X linked progressive cone-rod dystrophy. J Med Genet (2003) 0.89

Phenotypic conservation in patients with X-linked retinitis pigmentosa caused by RPGR mutations. JAMA Ophthalmol (2013) 0.86

Transcriptional profile analysis of RPGRORF15 frameshift mutation identifies novel genes associated with retinal degeneration. Invest Ophthalmol Vis Sci (2010) 0.86

Long-term follow-up of a family with dominant X-linked retinitis pigmentosa. Eye (Lond) (2009) 0.86

A novel mutation in retinitis pigmentosa GTPase regulator gene with a distinctive retinitis pigmentosa phenotype in a Chinese family. Mol Vis (2010) 0.85

eyeGENE®: a vision community resource facilitating patient care and paving the path for research through molecular diagnostic testing. Clin Genet (2013) 0.83

Ablation of retinal ciliopathy protein RPGR results in altered photoreceptor ciliary composition. Sci Rep (2015) 0.83

Photoreceptor rescue by an abbreviated human RPGR gene in a murine model of X-linked retinitis pigmentosa. Gene Ther (2015) 0.82

Stability and Safety of an AAV Vector for Treating RPGR-ORF15 X-Linked Retinitis Pigmentosa. Hum Gene Ther (2015) 0.82

Rod photoreceptors protect from cone degeneration-induced retinal remodeling and restore visual responses in zebrafish. J Neurosci (2013) 0.82

Novel mutations of RPGR in Chinese retinitis pigmentosa patients and the genotype-phenotype correlation. PLoS One (2014) 0.81

Gene augmentation for X-linked retinitis pigmentosa caused by mutations in RPGR. Cold Spring Harb Perspect Med (2014) 0.81

PDE6D binds to the C-terminus of RPGR in a prenylation-dependent manner. EMBO Rep (2015) 0.80

High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting. Am J Ophthalmol (2015) 0.79

The Role of RPGR and Its Interacting Proteins in Ciliopathies. J Ophthalmol (2015) 0.79

Loss of retinitis pigmentosa 2 (RP2) protein affects cone photoreceptor sensory cilium elongation in mice. Cytoskeleton (Hoboken) (2015) 0.78

Organization on the plasma membrane of the retinitis pigmentosa protein RP2: investigation of association with detergent-resistant membranes and polarized sorting. Biochem J (2003) 0.78

Structural and functional plasticity of subcellular tethering, targeting and processing of RPGRIP1 by RPGR isoforms. Biol Open (2011) 0.78

Visual Function in Carriers of X-Linked Retinitis Pigmentosa. Ophthalmology (2015) 0.77

Severe retinal degeneration in women with a c.2543del mutation in ORF15 of the RPGR gene. Mol Vis (2014) 0.76

Long-term rescue of cone photoreceptor degeneration in retinitis pigmentosa 2 (RP2)-knockout mice by gene replacement therapy. Hum Mol Genet (2015) 0.76

A large deletion in RPGR causes XLPRA in Weimaraner dogs. Canine Genet Epidemiol (2016) 0.76

Unravelling the genetic basis of simplex Retinitis Pigmentosa cases. Sci Rep (2017) 0.75

Identification of novel X-linked gain-of-function RPGR-ORF15 mutation in Italian family with retinitis pigmentosa and pathologic myopia. Sci Rep (2016) 0.75

Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish. J Biol Chem (2017) 0.75

Aberrant protein trafficking in retinal degenerations: The initial phase of retinal remodeling. Exp Eye Res (2015) 0.75

Molecular studies of phenotype variation in canine RPGR-XLPRA1. Mol Vis (2016) 0.75

Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies. Sci Rep (2017) 0.75

RPGR, a prenylated retinal ciliopathy protein, is targeted to cilia in a prenylation- and PDE6D-dependent manner. Biol Open (2016) 0.75

Analysis of RP2 and RPGR Mutations in Five X-Linked Chinese Families with Retinitis Pigmentosa. Sci Rep (2017) 0.75

Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families. Sci Rep (2017) 0.75

Genetic analysis of Chinese families reveals a novel truncation allele of the retinitis pigmentosa GTPase regulator gene. Int J Ophthalmol (2014) 0.75

Optimization of Retinal Gene Therapy for X-Linked Retinitis Pigmentosa Due to RPGR Mutations. Mol Ther (2017) 0.75

Instability in X chromosome inactivation patterns in AMD: a new risk factor? Med Hypothesis Discov Innov Ophthalmol (2013) 0.75

Quantitative Analysis of Retinal Structure using Spectral Domain Optical Coherence Tomography in RPGR-associated Retinopathy. Am J Ophthalmol (2017) 0.75

Positional cloning of the gene for X-linked retinitis pigmentosa 2. Nat Genet (1998) 4.01

Characterization of four novel ras-like genes expressed in a human teratocarcinoma cell line. Mol Cell Biol (1990) 3.31

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

X-linked retinitis pigmentosa. Br J Ophthalmol (1975) 3.11

Isolation and characterization of the active cDNA of the human cell cycle gene (RCC1) involved in the regulation of onset of chromosome condensation. Genes Dev (1987) 2.86

Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. Nat Genet (2000) 2.82

Pathway leading to correctly folded beta-tubulin. Cell (1996) 2.55

Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28. Nature (1984) 2.52

Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests. Proc Natl Acad Sci U S A (1990) 2.50

The 1.7 A crystal structure of the regulator of chromosome condensation (RCC1) reveals a seven-bladed propeller. Nature (1998) 2.42

A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3). Proc Natl Acad Sci U S A (2000) 2.19

Retinitis pigmentosa GTPase regulator (RPGRr)-interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting cilium. J Biol Chem (2000) 2.08

Retinitis pigmentosa. Genetic percentages. Arch Ophthalmol (1978) 1.98

Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1. Hum Mol Genet (1996) 1.90

The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors. Hum Mol Genet (2000) 1.84

Interocular asymmetry of visual function in heterozygotes of X-linked retinitis pigmentosa. Exp Eye Res (1989) 1.69

X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15. Am J Hum Genet (2002) 1.62

RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa. Hum Mol Genet (1999) 1.53

X-linked retinitis pigmentosa. Profile of clinical findings. Arch Ophthalmol (1988) 1.49

Mutations in the RPGR gene cause X-linked cone dystrophy. Hum Mol Genet (2002) 1.47

The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase. Proc Natl Acad Sci U S A (1999) 1.46

Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa. Am J Hum Genet (1997) 1.45

Identification of a novel protein interacting with RPGR. Hum Mol Genet (2000) 1.44

X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function. Invest Ophthalmol Vis Sci (2000) 1.41

Multipoint linkage analysis and heterogeneity testing in 20 X-linked retinitis pigmentosa families. Genomics (1990) 1.38

Heterogeneity analysis in 40 X-linked retinitis pigmentosa families. Am J Hum Genet (1994) 1.38

A practical diagnostic test for choroideremia. Ophthalmology (1998) 1.32

Localization of the gene for X-linked recessive type of retinitis pigmentosa (XLRP) to Xp21 by linkage analysis. Am J Hum Genet (1988) 1.28

Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study. Am J Hum Genet (1999) 1.28

Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15. Am J Hum Genet (2000) 1.28

Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families. Am J Hum Genet (1997) 1.25

Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRpgr). J Biol Chem (1998) 1.24

Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains. Hum Mutat (2001) 1.19

Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane. Hum Mol Genet (2000) 1.14

Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa. Am J Hum Genet (1999) 1.09

A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly. Am J Hum Genet (1997) 1.07

A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27. Am J Hum Genet (1998) 1.05

Evidence for a new locus for X-linked retinitis pigmentosa (RP23). Invest Ophthalmol Vis Sci (2000) 0.99

Gene therapy for ocular disease. Mol Ther (2000) 0.99

Isolation of retinal proteins that interact with retinitis pigmentosa GTPase regulator by interaction trap screen in yeast. Methods Enzymol (2000) 0.94

Molecular genetics and prospects for therapy of the inherited retinal dystrophies. Curr Opin Genet Dev (2001) 0.92

Mutations in the X-linked RP2 gene cause intracellular misrouting and loss of the protein. Hum Mol Genet (2001) 0.91

Ocular gene therapy: quo vadis? Invest Ophthalmol Vis Sci (2000) 0.89

Diagnostic issues with inherited retinal and macular dystrophies. Semin Ophthalmol (1995) 0.87

DNA sequence comparison of human and mouse retinitis pigmentosa GTPase regulator (RPGR) identifies tissue-specific exons and putative regulatory elements. Hum Genet (2001) 0.86

Genetic testing for familial adenomatous polyposis. Ann N Y Acad Sci (2000) 0.84

Mutation detection in the breast cancer gene BRCA1 using the protein truncation test. Mol Biotechnol (2000) 0.79

Biological, clinical and population relevance of 95 loci for blood lipids. Nature (2010) 28.21

Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet (2010) 23.08

Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature (2010) 20.01

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet (2010) 17.89

Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature (2011) 13.25

Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial. Hum Gene Ther (2008) 8.83

Meta-analysis and imputation refines the association of 15q25 with smoking quantity. Nat Genet (2010) 8.55

Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. Nat Genet (2010) 7.94

Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics. Proc Natl Acad Sci U S A (2008) 7.16

Complement C3 variant and the risk of age-related macular degeneration. N Engl J Med (2007) 6.47

SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout. Nat Genet (2008) 5.93

New loci associated with kidney function and chronic kidney disease. Nat Genet (2010) 5.58

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat Genet (2006) 5.36

Runs of homozygosity in European populations. Am J Hum Genet (2008) 5.34

Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations. PLoS Genet (2009) 4.97

Long-term restoration of rod and cone vision by single dose rAAV-mediated gene transfer to the retina in a canine model of childhood blindness. Mol Ther (2005) 4.74

Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways. Nat Genet (2012) 4.73

GWAS of 126,559 individuals identifies genetic variants associated with educational attainment. Science (2013) 4.71

CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration. Nat Genet (2006) 4.51

A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. Nat Genet (2012) 4.37

Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. Proc Natl Acad Sci U S A (2010) 4.30

Genome-wide association study identifies five loci associated with lung function. Nat Genet (2009) 4.10

Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways. Diabetes (2010) 4.07

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet (2010) 3.99

In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse. Hum Mol Genet (2006) 3.90

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

Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years. Arch Ophthalmol (2011) 3.79

Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. Nat Genet (2010) 3.55

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Nat Genet (2005) 3.55

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

Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. Nat Genet (2011) 3.40

Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. Nat Genet (2010) 3.37

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet (2009) 3.36

E2-2 protein and Fuchs's corneal dystrophy. N Engl J Med (2010) 3.31

Targeting of GFP to newborn rods by Nrl promoter and temporal expression profiling of flow-sorted photoreceptors. Proc Natl Acad Sci U S A (2006) 3.27

Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. Nat Genet (2013) 3.25

Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. PLoS Genet (2012) 3.21

High-resolution imaging with adaptive optics in patients with inherited retinal degeneration. Invest Ophthalmol Vis Sci (2007) 3.21

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

Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual improvements and safety at 1 year. Hum Gene Ther (2009) 3.07

A systematic approach to mapping recessive disease genes in individuals from outbred populations. PLoS Genet (2009) 3.06

Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. Nat Genet (2012) 3.04

Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. Nat Genet (2011) 3.03

Age-related macular degeneration: a high-resolution genome scan for susceptibility loci in a population enriched for late-stage disease. Am J Hum Genet (2004) 2.97

Management of autoimmune retinopathies with immunosuppression. Arch Ophthalmol (2009) 2.97

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

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

Novel associations of multiple genetic loci with plasma levels of factor VII, factor VIII, and von Willebrand factor: The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium. Circulation (2010) 2.78

CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina. Hum Mol Genet (2003) 2.77

FTO genotype is associated with phenotypic variability of body mass index. Nature (2012) 2.77

Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile. Nat Genet (2011) 2.73

Impairment of the transient pupillary light reflex in Rpe65(-/-) mice and humans with leber congenital amaurosis. Invest Ophthalmol Vis Sci (2004) 2.72

Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement. Proc Natl Acad Sci U S A (2013) 2.71

Effective gene therapy with nonintegrating lentiviral vectors. Nat Med (2006) 2.70

Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide association analysis. Hum Mol Genet (2008) 2.66

Vision 1 year after gene therapy for Leber's congenital amaurosis. N Engl J Med (2009) 2.57

In utero gene therapy rescues vision in a murine model of congenital blindness. Mol Ther (2004) 2.56

Retinal degeneration 12 (rd12): a new, spontaneously arising mouse model for human Leber congenital amaurosis (LCA). Mol Vis (2005) 2.55

Cone-like morphological, molecular, and electrophysiological features of the photoreceptors of the Nrl knockout mouse. Invest Ophthalmol Vis Sci (2005) 2.51

Genotyping of 73 UM-SCC head and neck squamous cell carcinoma cell lines. Head Neck (2010) 2.51

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Eur J Hum Genet (2005) 2.37

Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6. Proc Natl Acad Sci U S A (2005) 2.36

Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. Nat Genet (2013) 2.36

CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease. Dev Cell (2008) 2.35

Meta-analysis of genome scans of age-related macular degeneration. Hum Mol Genet (2005) 2.34

Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases. PLoS Genet (2012) 2.34

Toll-like receptor 4 variant D299G is associated with susceptibility to age-related macular degeneration. Hum Mol Genet (2005) 2.32

Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence. Hum Mol Genet (2004) 2.30

Topical dorzolamide for the treatment of cystoid macular edema in patients with retinitis pigmentosa. Am J Ophthalmol (2006) 2.27

Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa. Hum Mol Genet (2002) 2.26

Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene. Invest Ophthalmol Vis Sci (2012) 2.26

Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene. Ann Neurol (2009) 2.21

Diagnostic sensitivity and specificity of dark adaptometry for detection of age-related macular degeneration. Invest Ophthalmol Vis Sci (2014) 2.20

Detection of mosaic retinal dysfunction in choroideremia carriers electroretinographic and psychophysical testing. Ophthalmology (2008) 2.14

Photoreceptor-specific nuclear receptor NR2E3 functions as a transcriptional activator in rod photoreceptors. Hum Mol Genet (2004) 2.14

Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa. Proc Natl Acad Sci U S A (2012) 2.12

Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. Nat Genet (2012) 2.12

The nob2 mouse, a null mutation in Cacna1f: anatomical and functional abnormalities in the outer retina and their consequences on ganglion cell visual responses. Vis Neurosci (2006) 2.10