Published in Invest Ophthalmol Vis Sci on December 13, 2008
Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations. Invest Ophthalmol Vis Sci (2010) 1.98
Dysregulation of Ca(v)1.4 channels disrupts the maturation of photoreceptor synaptic ribbons in congenital stationary night blindness type 2. Channels (Austin) (2013) 1.33
The diversity of calcium sensor proteins in the regulation of neuronal function. Cold Spring Harb Perspect Biol (2010) 1.00
A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype. Mol Vis (2010) 0.98
Bioinformatic analysis of CaBP/calneuron proteins reveals a family of highly conserved vertebrate Ca2+-binding proteins. BMC Res Notes (2010) 0.97
Complex regulation of voltage-dependent activation and inactivation properties of retinal voltage-gated Cav1.4 L-type Ca2+ channels by Ca2+-binding protein 4 (CaBP4). J Biol Chem (2012) 0.97
A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment. Am J Hum Genet (2012) 0.97
Mouse b-wave mutants. Doc Ophthalmol (2014) 0.97
More than a pore: ion channel signaling complexes. J Neurosci (2014) 0.94
Evolution and functional diversity of the Calcium Binding Proteins (CaBPs). Front Mol Neurosci (2012) 0.90
A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family. Mol Vis (2011) 0.89
Sense and specificity in neuronal calcium signalling. Biochim Biophys Acta (2014) 0.84
Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy. Invest Ophthalmol Vis Sci (2012) 0.83
An extended 15 Hz ERG protocol (1): the contributions of primary and secondary rod pathways and the cone pathway. Doc Ophthalmol (2011) 0.82
Localization and expression of CaBP1/caldendrin in the mouse brain. Neuroscience (2014) 0.82
An extended 15 Hz ERG protocol (2): data of normal subjects and patients with achromatopsia, CSNB1, and CSNB2. Doc Ophthalmol (2011) 0.82
Protein phosphatase 2A dephosphorylates CaBP4 and regulates CaBP4 function. Invest Ophthalmol Vis Sci (2013) 0.81
A vertex similarity-based framework to discover and rank orphan disease-related genes. BMC Syst Biol (2012) 0.81
Retinal characteristics of the congenital disorder of glycosylation PMM2-CDG. J Inherit Metab Dis (2013) 0.81
Assessment of night vision problems in patients with congenital stationary night blindness. PLoS One (2013) 0.80
Decalmodulation of Cav1 channels by CaBPs. Channels (Austin) (2015) 0.77
Insight into the role of Ca2+-binding protein 5 in vesicle exocytosis. Invest Ophthalmol Vis Sci (2011) 0.77
Visually impaired children: "coming to better terms". Doc Ophthalmol (2009) 0.77
Structural insights into activation of the retinal L-type Ca²⁺ channel (Cav1.4) by Ca²⁺-binding protein 4 (CaBP4). J Biol Chem (2014) 0.76
Voltage-Gated Cav1 Channels in Disorders of Vision and Hearing. Curr Mol Pharmacol (2015) 0.75
Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark. Invest Ophthalmol Vis Sci (2016) 0.75
A COLQ Missense Mutation in Sphynx and Devon Rex Cats with Congenital Myasthenic Syndrome. PLoS One (2015) 0.75
Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee. Ophthalmic Genet (2017) 0.75
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet (2009) 8.30
Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog Retin Eye Res (2008) 5.90
Human dectin-1 deficiency and mucocutaneous fungal infections. N Engl J Med (2009) 5.27
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am J Hum Genet (2006) 4.77
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet (2010) 3.99
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. Nat Genet (2011) 3.93
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet (2009) 3.36
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nat Genet (2007) 3.22
Long-term effect of gene therapy on Leber's congenital amaurosis. N Engl J Med (2015) 2.68
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Eur J Hum Genet (2005) 2.37
Next-generation genetic testing for retinitis pigmentosa. Hum Mutat (2012) 2.30
Molecular genetics of Leber congenital amaurosis. Hum Mol Genet (2002) 2.29
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
Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I. Cell Metab (2010) 2.21
Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles. Invest Ophthalmol Vis Sci (2005) 2.20
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. Nat Genet (2007) 2.16
Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies. J Clin Invest (2010) 2.13
The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene. Graefes Arch Clin Exp Ophthalmol (2004) 2.12
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Nat Genet (2012) 2.12
Allergy is a protective factor against age-related macular degeneration. Invest Ophthalmol Vis Sci (2014) 2.09
Clinical significance of de novo and inherited copy-number variation. Hum Mutat (2013) 2.08
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
Spectral-domain optical coherence tomography in subjects over 60 years of age, and its implications for designing clinical trials. Br J Ophthalmol (2012) 2.03
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome. Hum Mutat (2008) 2.03
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
A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14. Nat Genet (2010) 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
Mutations in TRPM1 are a common cause of complete congenital stationary night blindness. Am J Hum Genet (2009) 1.92
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. Nat Genet (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
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. Am J Hum Genet (2010) 1.87
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
Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability. J Med Genet (2011) 1.81
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans. Nat Genet (2008) 1.78
CRB1 mutation spectrum in inherited retinal dystrophies. Hum Mutat (2004) 1.75
Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. Am J Hum Genet (2009) 1.72
Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa. Am J Hum Genet (2009) 1.72
Genetic etiology and clinical consequences of complete and incomplete achromatopsia. Ophthalmology (2009) 1.65
Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray. Mol Vis (2010) 1.64
Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis. Invest Ophthalmol Vis Sci (2006) 1.63
Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography. Invest Ophthalmol Vis Sci (2010) 1.61
Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions. Clin Experiment Ophthalmol (2007) 1.58
Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram. Invest Ophthalmol Vis Sci (2005) 1.57