Published in Invest Ophthalmol Vis Sci on July 02, 2009
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet (2009) 1.93
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. Eur J Hum Genet (2013) 1.83
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
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet (2012) 1.25
Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet (2012) 1.18
Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland. Hum Genet (2014) 1.10
Assessing retinal structure in complete congenital stationary night blindness and Oguchi disease. Am J Ophthalmol (2012) 1.00
Mouse b-wave mutants. Doc Ophthalmol (2014) 0.97
Autofluorescence imaging and spectral-domain optical coherence tomography in incomplete congenital stationary night blindness and comparison with retinitis pigmentosa. Am J Ophthalmol (2011) 0.93
Calcium binding protein-mediated regulation of voltage-gated calcium channels linked to human diseases. Acta Pharmacol Sin (2011) 0.87
Electroretinographic findings in a patient with congenital stationary night blindness due to a novel NYX mutation. Ophthalmic Genet (2013) 0.84
Protein phosphatase 2A dephosphorylates CaBP4 and regulates CaBP4 function. Invest Ophthalmol Vis Sci (2013) 0.81
"mGlu Receptors in the Retina" - WIREs Membrane Transport and Signaling. Wiley Interdiscip Rev Membr Transp Signal (2012) 0.81
Insight into the role of Ca2+-binding protein 5 in vesicle exocytosis. Invest Ophthalmol Vis Sci (2011) 0.77
A Naturally Occurring Canine Model of Autosomal Recessive Congenital Stationary Night Blindness. PLoS One (2015) 0.76
Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families. Invest Ophthalmol Vis Sci (2017) 0.75
Guidelines for the use and interpretation of assays for monitoring autophagy. Autophagy (2012) 20.08
A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. Nat Genet (2010) 8.48
Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial. Lancet (2009) 6.71
Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog Retin Eye Res (2008) 5.90
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am J Hum Genet (2006) 4.77
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. Cell (2010) 4.37
Disclosure of individual genetic data to research participants: the debate reconsidered. Trends Genet (2010) 3.83
Seven new loci associated with age-related macular degeneration. Nat Genet (2013) 3.81
The IC3D classification of the corneal dystrophies. Cornea (2008) 3.46
A peptide inhibitor of c-Jun N-terminal kinase protects against excitotoxicity and cerebral ischemia. Nat Med (2003) 3.45
OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. Brain (2007) 3.35
Interim results from the international trial of Second Sight's visual prosthesis. Ophthalmology (2012) 3.35
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nat Genet (2007) 3.22
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. Nature (2012) 3.08
Yield of additional metabolic studies in neurodevelopmental disorders. Ann Neurol (2008) 2.90
Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity. J Invest Dermatol (2006) 2.76
Correlation between retinal abnormalities and intracranial abnormalities in the shaken baby syndrome. Am J Ophthalmol (2002) 2.75
Identification and characterization of rod-derived cone viability factor. Nat Genet (2004) 2.63
OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion. Brain (2008) 2.57
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. Nat Genet (2004) 2.40
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Eur J Hum Genet (2005) 2.37
Activating mutation of the renal epithelial chloride channel ClC-Kb predisposing to hypertension. Hypertension (2004) 2.32
Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation. Am J Med Genet A (2006) 2.31
The human dynamin-related protein OPA1 is anchored to the mitochondrial inner membrane facing the inter-membrane space. FEBS Lett (2002) 2.30
Next-generation genetic testing for retinitis pigmentosa. Hum Mutat (2012) 2.30
Heterozygous mutations of OTX2 cause severe ocular malformations. Am J Hum Genet (2005) 2.26
Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. Am J Hum Genet (2010) 2.26
Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene. Invest Ophthalmol Vis Sci (2012) 2.26
Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. J Clin Invest (2008) 2.24
Biallelic mutation of BEST1 causes a distinct retinopathy in humans. Am J Hum Genet (2008) 2.24
SOX2 anophthalmia syndrome. Am J Med Genet A (2005) 2.24
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Nat Genet (2003) 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
Guidelines for postmortem protocol for ocular investigation of sudden unexplained infant death and suspected physical child abuse. Am J Forensic Med Pathol (2007) 2.20
Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles. Invest Ophthalmol Vis Sci (2005) 2.20
BIGH3 mutation spectrum in corneal dystrophies. Invest Ophthalmol Vis Sci (2002) 2.19
The challenges to ophthalmologic follow-up care in at-risk pediatric populations. J AAPOS (2013) 2.17
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. Nat Genet (2007) 2.16
Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2. Am J Hum Genet (2004) 2.13
Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies. J Clin Invest (2010) 2.13
Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. Am J Hum Genet (2002) 2.13
The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene. Graefes Arch Clin Exp Ophthalmol (2004) 2.12
Role of hyaluronidase in diplopia after peribulbar anesthesia for cataract surgery. Ophthalmology (2005) 2.10
Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. Am J Hum Genet (2002) 2.10
A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. Hum Mutat (2013) 2.07
L1 retrotransposition can occur early in human embryonic development. Hum Mol Genet (2007) 2.04
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome. Hum Mutat (2008) 2.03
Increased levator muscle function by supramaximal resection in patients with blepharophimosis-ptosis-epicanthus inversus syndrome. Arch Ophthalmol (2011) 2.02
In vivo confocal imaging of the retina in animal models using scanning laser ophthalmoscopy. Vision Res (2005) 2.02
Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance. Am J Med Genet A (2007) 2.01
Cone dystrophy with supernormal rod response: novel KCNV2 mutations in an underdiagnosed phenotype. Ophthalmology (2013) 1.99
Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations. Invest Ophthalmol Vis Sci (2010) 1.98
The spectrum of ocular phenotypes caused by mutations in the BEST1 gene. Prog Retin Eye Res (2009) 1.94
Photoreceptor cell death mechanisms in inherited retinal degeneration. Mol Neurobiol (2008) 1.94
The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1. Hum Mol Genet (2006) 1.94
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet (2009) 1.93
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. Nat Genet (2010) 1.89
CEP290, a gene with many faces: mutation overview and presentation of CEP290base. Hum Mutat (2010) 1.89
Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II. Am J Hum Genet (2004) 1.88
Genotype and phenotype of 101 dutch patients with congenital stationary night blindness. Ophthalmology (2013) 1.87
NMNAT1 mutations cause Leber congenital amaurosis. Nat Genet (2012) 1.86
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. J Clin Invest (2010) 1.85
Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa. Eur J Hum Genet (2004) 1.84
Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa. Am J Hum Genet (2008) 1.84
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. Am J Hum Genet (2009) 1.83
A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy. Brain (2007) 1.82
Meta-analysis confirms the LCE3C_LCE3B deletion as a risk factor for psoriasis in several ethnic groups and finds interaction with HLA-Cw6. J Invest Dermatol (2010) 1.82