Published in J Clin Invest on May 23, 2011
Safety Study in Subjects With Leber Congenital Amaurosis | NCT00516477
AAV2 gene therapy readministration in three adults with congenital blindness. Sci Transl Med (2012) 2.87
Test-retest, within-visit variability of Goldmann visual fields in retinitis pigmentosa. Invest Ophthalmol Vis Sci (2011) 1.26
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AAV-mediated gene therapy in the guanylate cyclase (RetGC1/RetGC2) double knockout mouse model of Leber congenital amaurosis. Hum Gene Ther (2013) 1.03
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Targeting co-stimulatory pathways in gene therapy. Front Microbiol (2011) 0.80
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Intraneural convection enhanced delivery of AAVrh20 for targeting primary sensory neurons. Mol Cell Neurosci (2014) 0.78
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AAV Delivery of Endothelin-1 shRNA Attenuates Cold-Induced Hypertension. Hum Gene Ther (2016) 0.75
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Optimization of adeno-associated virus vector-mediated gene transfer to the respiratory tract. Gene Ther (2017) 0.75
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Thresholding of statistical maps in functional neuroimaging using the false discovery rate. Neuroimage (2002) 29.63
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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
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An efficient algorithm for topologically correct segmentation of the cortical sheet in anatomical mr volumes. Neuroimage (2001) 1.91
Reorganization of visual processing in macular degeneration. J Neurosci (2005) 1.90
Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutation. PLoS Med (2007) 1.79
Reorganization of human cortical maps caused by inherited photoreceptor abnormalities. Nat Neurosci (2002) 1.69
Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations. Invest Ophthalmol Vis Sci (2008) 1.54
fMRI retinotopic mapping--step by step. Neuroimage (2002) 1.45
V1 projection zone signals in human macular degeneration depend on task, not stimulus. Cereb Cortex (2008) 1.44
Reorganization of visual processing in macular degeneration: replication and clues about the role of foveal loss. Vision Res (2008) 1.37
Molecular anthropology meets genetic medicine to treat blindness in the North African Jewish population: human gene therapy initiated in Israel. Hum Gene Ther (2010) 1.33
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Evaluation of genotype-phenotype associations in leber congenital amaurosis. Retina (2005) 1.14
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Task-dependent V1 responses in human retinitis pigmentosa. Invest Ophthalmol Vis Sci (2010) 0.88
Immunohistochemical studies of cone photoreceptors and cells of the inner retina in feline rod-cone degeneration. Vet Ophthalmol (2001) 0.80
Safety and efficacy of gene transfer for Leber's congenital amaurosis. N Engl J Med (2008) 17.21
Direct evidence that the VEGF-specific antibody bevacizumab has antivascular effects in human rectal cancer. Nat Med (2004) 9.80
Gastroenteropancreatic neuroendocrine tumours. Lancet Oncol (2008) 7.65
Celecoxib for the prevention of sporadic colorectal adenomas. N Engl J Med (2006) 7.62
Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial. Lancet (2009) 6.71
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Induction of interleukin-8 preserves the angiogenic response in HIF-1alpha-deficient colon cancer cells. Nat Med (2005) 4.27
Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success. Proc Natl Acad Sci U S A (2005) 4.04
Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration. Mol Ther (2009) 3.93
Surrogate markers for antiangiogenic therapy and dose-limiting toxicities for bevacizumab with radiation and chemotherapy: continued experience of a phase I trial in rectal cancer patients. J Clin Oncol (2005) 3.83
Efficacy, safety, and biomarkers of neoadjuvant bevacizumab, radiation therapy, and fluorouracil in rectal cancer: a multidisciplinary phase II study. J Clin Oncol (2009) 3.39
Reversal of blindness in animal models of leber congenital amaurosis using optimized AAV2-mediated gene transfer. Mol Ther (2008) 3.28
Fusobacterium nucleatum potentiates intestinal tumorigenesis and modulates the tumor-immune microenvironment. Cell Host Microbe (2013) 3.21
Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research. J Med Genet (2010) 3.15
MicroRNAs involved in molecular circuitries relevant for the Duchenne muscular dystrophy pathogenesis are controlled by the dystrophin/nNOS pathway. Cell Metab (2010) 2.99
AAV2 gene therapy readministration in three adults with congenital blindness. Sci Transl Med (2012) 2.87
Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity. J Invest Dermatol (2006) 2.76
Impairment of the transient pupillary light reflex in Rpe65(-/-) mice and humans with leber congenital amaurosis. Invest Ophthalmol Vis Sci (2004) 2.72
Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. Invest Ophthalmol Vis Sci (2007) 2.69
An integrative genomics approach identifies Hypoxia Inducible Factor-1 (HIF-1)-target genes that form the core response to hypoxia. Nucleic Acids Res (2009) 2.69
Small interfering RNA (siRNA) targeting VEGF effectively inhibits ocular neovascularization in a mouse model. Mol Vis (2003) 2.68
The chromosomal instability pathway in colon cancer. Gastroenterology (2010) 2.59
In utero gene therapy rescues vision in a murine model of congenital blindness. Mol Ther (2004) 2.56
Five-year efficacy and safety analysis of the Adenoma Prevention with Celecoxib Trial. Cancer Prev Res (Phila) (2009) 2.46
Serotype-dependent packaging of large genes in adeno-associated viral vectors results in effective gene delivery in mice. J Clin Invest (2008) 2.40
Low rate of microsatellite instability in young patients with adenomas: reassessing the Bethesda guidelines. Am J Gastroenterol (2005) 2.40
Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport. J Clin Invest (2004) 2.30
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
Biallelic mutation of BEST1 causes a distinct retinopathy in humans. Am J Hum Genet (2008) 2.24
Lateral connectivity and contextual interactions in macaque primary visual cortex. Neuron (2002) 2.16
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Safety of recombinant adeno-associated virus type 2-RPE65 vector delivered by ocular subretinal injection. Mol Ther (2006) 2.13
Novel adeno-associated virus serotypes efficiently transduce murine photoreceptors. J Virol (2007) 2.05
MEG detection of delayed auditory evoked responses in autism spectrum disorders: towards an imaging biomarker for autism. Autism Res (2010) 2.03
Eye movement recordings as an effectiveness indicator of gene therapy in RPE65-deficient canines: implications for the ocular motor system. Invest Ophthalmol Vis Sci (2006) 2.01
Auditory magnetic mismatch field latency: a biomarker for language impairment in autism. Biol Psychiatry (2011) 1.99
The spectrum of ocular phenotypes caused by mutations in the BEST1 gene. Prog Retin Eye Res (2009) 1.94
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet (2009) 1.93
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Three-year follow-up after unilateral subretinal delivery of adeno-associated virus in patients with Leber congenital Amaurosis type 2. Ophthalmology (2013) 1.85
Safety in nonhuman primates of ocular AAV2-RPE65, a candidate treatment for blindness in Leber congenital amaurosis. Hum Gene Ther (2006) 1.81
Novel AAV serotypes for improved ocular gene transfer. J Gene Med (2008) 1.80
Hypoxia-inducible factor-1-independent regulation of vascular endothelial growth factor by hypoxia in colon cancer. Cancer Res (2004) 1.76
Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. Am J Hum Genet (2009) 1.72
Priorities for improving the management of gastroenteropancreatic neuroendocrine tumors. J Natl Cancer Inst (2008) 1.71
FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. Am J Hum Genet (2003) 1.70
Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). Invest Ophthalmol Vis Sci (2004) 1.69
Facilitating informed decisions regarding microsatellite instability testing among high-risk individuals diagnosed with colorectal cancer. J Clin Oncol (2010) 1.69
Prophylactic total gastrectomy for individuals with germline CDH1 mutation. Surgery (2010) 1.67
The Cables gene on chromosome 18Q regulates colon cancer progression in vivo. Cancer Biol Ther (2005) 1.65
Mechanisms of primary axonal damage in a viral model of multiple sclerosis. J Neurosci (2009) 1.65
Direct evidence that bevacizumab, an anti-VEGF antibody, up-regulates SDF1alpha, CXCR4, CXCL6, and neuropilin 1 in tumors from patients with rectal cancer. Cancer Res (2009) 1.64
Gene therapy for choroideremia: in vitro rescue mediated by recombinant adenovirus. Vision Res (2003) 1.63
Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis. Invest Ophthalmol Vis Sci (2006) 1.63
Development of a genotyping microarray for Usher syndrome. J Med Genet (2006) 1.63
AAV-mediated gene therapy for choroideremia: preclinical studies in personalized models. PLoS One (2013) 1.62
LKB1--a master tumour suppressor of the small intestine and beyond. Nat Rev Cancer (2002) 1.62
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