Published in Eur J Hum Genet on May 01, 2003
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. Nat Genet (2012) 1.96
NMNAT1 mutations cause Leber congenital amaurosis. Nat Genet (2012) 1.86
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. Am J Hum Genet (2004) 1.78
Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa. Am J Hum Genet (2009) 1.72
Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis. Nat Genet (2012) 1.31
Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes. Hum Mutat (2010) 1.21
Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia. Hum Mol Genet (2010) 1.16
Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1. Am J Med Genet A (2010) 1.06
RDH12 retinopathy: novel mutations and phenotypic description. Mol Vis (2011) 0.96
Review and update on the molecular basis of Leber congenital amaurosis. World J Clin Cases (2015) 0.93
Temporal ChIP-on-Chip of RNA-Polymerase-II to detect novel gene activation events during photoreceptor maturation. Mol Vis (2010) 0.93
Detecting genetic variations in hereditary retinal dystrophies with next-generation sequencing technology. Mol Vis (2014) 0.89
Identification of candidate genes for human retinal degeneration loci using differentially expressed genes from mouse photoreceptor dystrophy models. Mol Vis (2008) 0.87
Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype. PLoS One (2013) 0.85
Cloning and characterization of mr-s, a novel SAM domain protein, predominantly expressed in retinal photoreceptor cells. BMC Dev Biol (2006) 0.80
Characterization of Leber Congenital Amaurosis-associated NMNAT1 Mutants. J Biol Chem (2015) 0.78
[Genetic and clinical heterogeneity in LCA patients. The end of uniformity]. Ophthalmologe (2007) 0.77
Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1. Hum Mutat (2015) 0.76
Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee. Ophthalmic Genet (2017) 0.75
An SCN9A channelopathy causes congenital inability to experience pain. Nature (2006) 7.01
A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. Nat Genet (2005) 5.48
Quantification of homozygosity in consanguineous individuals with autosomal recessive disease. Am J Hum Genet (2006) 3.52
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet (2009) 3.36
Identification of microcephalin, a protein implicated in determining the size of the human brain. Am J Hum Genet (2002) 3.13
Purtscher's retinopathy: epidemiology, clinical features and outcome. Br J Ophthalmol (2007) 3.06
Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. Am J Hum Genet (2004) 2.70
Null mutations in LTBP2 cause primary congenital glaucoma. Am J Hum Genet (2009) 2.35
Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa. Hum Mol Genet (2002) 2.34
Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2). Nat Genet (2006) 2.20
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. Nat Genet (2007) 2.16
Developmental basis of nanophthalmos: MFRP Is required for both prenatal ocular growth and postnatal emmetropization. Ophthalmic Genet (2008) 2.15
Real-time PCR based on SYBR-Green I fluorescence: an alternative to the TaqMan assay for a relative quantification of gene rearrangements, gene amplifications and micro gene deletions. BMC Biotechnol (2003) 2.05
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. Nat Genet (2012) 1.96
Protein-truncating mutations in ASPM cause variable reduction in brain size. Am J Hum Genet (2003) 1.89
Partnerships for better mental health worldwide: WPA recommendations on best practices in working with service users and family carers. World Psychiatry (2011) 1.87
Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein. Proc Natl Acad Sci U S A (2005) 1.80
Umbilical vein oxytocin for the treatment of retained placenta (Release Study): a double-blind, randomised controlled trial. Lancet (2009) 1.67
Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta. Am J Hum Genet (2009) 1.65
Mutations in microcephalin cause aberrant regulation of chromosome condensation. Am J Hum Genet (2004) 1.62
SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies. Am J Med Genet A (2005) 1.59
Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta. Am J Hum Genet (2009) 1.58
Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation. Invest Ophthalmol Vis Sci (2005) 1.57
Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays. Invest Ophthalmol Vis Sci (2007) 1.54
Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism. Am J Hum Genet (2013) 1.53
Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. Am J Hum Genet (2009) 1.53
IQCB1 mutations in patients with leber congenital amaurosis. Invest Ophthalmol Vis Sci (2011) 1.43
Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy. Am J Hum Genet (2010) 1.38
Further insight into West African crystalline maculopathy. Arch Ophthalmol (2009) 1.35
CFH, VEGF and HTRA1 promoter genotype may influence the response to intravitreal ranibizumab therapy for neovascular age-related macular degeneration. Br J Ophthalmol (2011) 1.33
Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta. Am J Hum Genet (2013) 1.33
prp8 mutations that cause human retinitis pigmentosa lead to a U5 snRNP maturation defect in yeast. Nat Struct Mol Biol (2007) 1.32
The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations. Arch Ophthalmol (2004) 1.25
Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta. Am J Hum Genet (2012) 1.24
CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy. Invest Ophthalmol Vis Sci (2009) 1.21
Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa. Eur J Hum Genet (2002) 1.20
Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations. Am J Ophthalmol (2007) 1.19
Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy. Invest Ophthalmol Vis Sci (2004) 1.19
Genetic and epigenetic analysis of recurrent hydatidiform mole. Hum Mutat (2009) 1.19
Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice. Am J Hum Genet (2009) 1.16
PAP-1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing factor. Exp Cell Res (2004) 1.15
ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. Proc Natl Acad Sci U S A (2013) 1.08
Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma. Am J Hum Genet (2011) 1.08
Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR). Invest Ophthalmol Vis Sci (2012) 1.07
Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene. Invest Ophthalmol Vis Sci (2013) 1.06
Regional and ethnic distribution of beta thalassemia mutations and effect of consanguinity in patients referred for prenatal diagnosis. J Coll Physicians Surg Pak (2007) 1.05
Genotype-phenotype correlation for leber congenital amaurosis in Northern Pakistan. Arch Ophthalmol (2010) 1.04
Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma. Mol Vis (2010) 1.03
A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta. Hum Mol Genet (2013) 1.01
Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate. Eur J Hum Genet (2002) 0.97
A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration. Mol Vis (2008) 0.95
Three gene-targeted mouse models of RNA splicing factor RP show late-onset RPE and retinal degeneration. Invest Ophthalmol Vis Sci (2011) 0.94
Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis. Mol Vis (2008) 0.94
'All is done by Allah'. Understandings of Down syndrome and prenatal testing in Pakistan. Soc Sci Med (2011) 0.94
Ultrastructural changes in the retinopathy, globe enlarged (rge) chick cornea. J Struct Biol (2009) 0.94
Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies. Cilia (2012) 0.93
Ranibizumab in myopic choroidal neovascularization: the 12-month results from the REPAIR study. Ophthalmology (2013) 0.92
Delivery from episcleral exoplants. Invest Ophthalmol Vis Sci (2006) 0.90
Replication of the recessive STBMS1 locus but with dominant inheritance. Invest Ophthalmol Vis Sci (2009) 0.90