Published in Hum Mutat on April 01, 2007
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am J Hum Genet (2007) 3.42
Ciliopathies: an expanding disease spectrum. Pediatr Nephrol (2011) 2.95
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. Am J Hum Genet (2007) 1.82
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. J Med Genet (2010) 1.76
Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons. Proc Natl Acad Sci U S A (2007) 1.74
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. Hum Genet (2013) 1.69
Clinical and molecular features of Joubert syndrome and related disorders. Am J Med Genet C Semin Med Genet (2009) 1.66
Basal exon skipping and genetic pleiotropy: A predictive model of disease pathogenesis. Sci Transl Med (2015) 1.64
Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome. J Med Genet (2007) 1.56
Joubert syndrome: insights into brain development, cilium biology, and complex disease. Semin Pediatr Neurol (2009) 1.48
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. J Med Genet (2013) 1.47
Nephronophthisis. Pediatr Nephrol (2008) 1.40
Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis. PLoS One (2011) 1.33
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy. Nat Genet (2012) 1.33
Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy. Hum Mol Genet (2011) 1.27
Genetic and physical interaction between the NPHP5 and NPHP6 gene products. Hum Mol Genet (2008) 1.26
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
CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype. Gene Ther (2014) 1.15
The N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness. Hum Mol Genet (2011) 1.11
Retinitis Pigmentosa GTPase Regulator (RPGR) protein isoforms in mammalian retina: insights into X-linked Retinitis Pigmentosa and associated ciliopathies. Vision Res (2007) 1.08
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing. PLoS One (2016) 1.07
Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis. Proc Natl Acad Sci U S A (2014) 1.07
Antisense Oligonucleotide (AON)-based Therapy for Leber Congenital Amaurosis Caused by a Frequent Mutation in CEP290. Mol Ther Nucleic Acids (2012) 1.05
AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation. Mol Ther Nucleic Acids (2012) 1.01
Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration. J Clin Invest (2013) 1.01
Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290. Mol Vis (2012) 0.95
RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction. J Genet (2009) 0.94
Review and update on the molecular basis of Leber congenital amaurosis. World J Clin Cases (2015) 0.93
Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis. PLoS One (2013) 0.91
Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis. Hum Genet (2010) 0.90
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
Expanding CEP290 mutational spectrum in ciliopathies. Am J Med Genet A (2009) 0.85
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa. Sci Rep (2015) 0.84
Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate Splicing in Retinal Cells. Mol Ther Nucleic Acids (2015) 0.84
Investigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndrome. PLoS One (2012) 0.83
Exome capture sequencing identifies a novel mutation in BBS4. Mol Vis (2011) 0.83
Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. Invest Ophthalmol Vis Sci (2015) 0.81
Visual acuity changes in patients with leber congenital amaurosis and mutations in CEP290. JAMA Ophthalmol (2013) 0.81
Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark. Eur J Hum Genet (2015) 0.78
Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies. Sci Rep (2016) 0.78
Full-Field Pupillary Light Responses, Luminance Thresholds, and Light Discomfort Thresholds in CEP290 Leber Congenital Amaurosis Patients. Invest Ophthalmol Vis Sci (2015) 0.77
Genomic approaches for the discovery of genes mutated in inherited retinal degeneration. Cold Spring Harb Perspect Med (2014) 0.77
CCT2 Mutations Evoke Leber Congenital Amaurosis due to Chaperone Complex Instability. Sci Rep (2016) 0.77
Novel homozygous large deletion including the 5' part of the SPATA7 gene in a consanguineous Israeli Muslim Arab family. Mol Vis (2015) 0.75
In vivo versus ex vivo CRISPR therapies for retinal dystrophy. Expert Rev Ophthalmol (2016) 0.75
CRISPR/Cas9-Mediated Genome Editing as a Therapeutic Approach for Leber Congenital Amaurosis 10. Mol Ther (2017) 0.75
Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies. Sci Rep (2017) 0.75
Unravelling the genetic basis of simplex Retinitis Pigmentosa cases. Sci Rep (2017) 0.75
Unraveling the mysteries of pre-mRNA splicing in the retina via stem cell technology. Stem Cell Investig (2016) 0.75
Stem cells with a view: a look inside a retinal ciliopathy. Stem Cell Investig (2016) 0.75
From disease modelling to personalised therapy in patients with CEP290 mutations. F1000Res (2017) 0.75
Genes and molecular pathways underpinning ciliopathies. Nat Rev Mol Cell Biol (2017) 0.75
Clinical and genetic characteristics of Leber congenital amaurosis with novel mutations in known genes based on a Chinese eastern coast Han population. Graefes Arch Clin Exp Ophthalmol (2016) 0.75
Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee. Ophthalmic Genet (2017) 0.75
Diagnostic application of clinical exome sequencing in Leber congenital amaurosis. Mol Vis (2017) 0.75
In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations. Cell Rep (2017) 0.75
Lamin a truncation in Hutchinson-Gilford progeria. Science (2003) 8.01
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet (2009) 5.84
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Nat Genet (2006) 5.26
Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. Nat Genet (2007) 4.99
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. Nat Genet (2005) 4.76
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nat Genet (2006) 3.97
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet (2003) 3.96
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet (2010) 3.66
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am J Hum Genet (2007) 3.42
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. Hum Mutat (2004) 3.07
Segregation at three loci explains familial and population risk in Hirschsprung disease. Nat Genet (2002) 3.07
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet (2011) 3.06
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nat Genet (2009) 3.03
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am J Hum Genet (2006) 2.96
Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis. N Engl J Med (2011) 2.93
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. Nat Genet (2012) 2.86
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet (2007) 2.81
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. Nat Genet (2009) 2.72
Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. Invest Ophthalmol Vis Sci (2007) 2.69
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet (2006) 2.68
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. Nat Genet (2012) 2.63
miR-122, a paradigm for the role of microRNAs in the liver. J Hepatol (2008) 2.61
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. Nat Genet (2011) 2.52
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). Ann Neurol (2010) 2.48
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study. Lancet Neurol (2013) 2.36
Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects. Mol Aspects Med (2004) 2.32
Ophthalmologic findings in suspected child abuse victims with subdural hematomas. Ophthalmology (2003) 2.27
Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. Am J Hum Genet (2007) 2.22
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. Am J Hum Genet (2004) 2.22
Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles. Invest Ophthalmol Vis Sci (2005) 2.20
Identification of mutations in CUL7 in 3-M syndrome. Nat Genet (2005) 2.10
Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations. Am J Hum Genet (2009) 2.09
Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans. Nat Genet (2011) 2.04
DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. Am J Hum Genet (2009) 2.03
Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis. Nat Genet (2007) 2.03
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. Am J Hum Genet (2011) 2.02
Succinate dehydrogenase and human diseases: new insights into a well-known enzyme. Eur J Hum Genet (2002) 2.00
Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease. Gastroenterology (2004) 1.98
Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. Am J Hum Genet (2004) 1.98
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet (2009) 1.93
Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. Hum Mutat (2007) 1.93
Tequila, a neurotrypsin ortholog, regulates long-term memory formation in Drosophila. Science (2006) 1.93
A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. J Clin Invest (2003) 1.92
CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. Am J Hum Genet (2008) 1.86
Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6. Am J Hum Genet (2007) 1.86
Selective iron chelation in Friedreich ataxia: biologic and clinical implications. Blood (2007) 1.84
Segregation of mtDNA throughout human embryofetal development: m.3243A>G as a model system. Hum Mutat (2011) 1.83
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. Am J Hum Genet (2007) 1.82
Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation. Am J Hum Genet (2008) 1.82
Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation. Science (2002) 1.80
Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. Am J Med Genet A (2003) 1.79
Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. J Clin Invest (2007) 1.78
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. Am J Hum Genet (2004) 1.78
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. Nat Genet (2008) 1.78
Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis. PLoS Genet (2011) 1.77
Mutation in myosin heavy chain 6 causes atrial septal defect. Nat Genet (2005) 1.76
MED23 mutation links intellectual disability to dysregulation of immediate early gene expression. Science (2011) 1.74
Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis. Am J Hum Genet (2013) 1.70
Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. Am J Hum Genet (2011) 1.70
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. Eur J Hum Genet (2006) 1.69
Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations. Hum Mutat (2009) 1.67
Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion. Ann Neurol (2007) 1.67
Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease. Hum Mutat (2009) 1.67
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nat Genet (2011) 1.62
Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta. Am J Hum Genet (2009) 1.58
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. Orphanet J Rare Dis (2011) 1.57
Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome. J Med Genet (2007) 1.56
Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis. J Lipid Res (2005) 1.56
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet (2011) 1.55
Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood. J Pediatr (2007) 1.54
Germline gain-of-function mutations of ALK disrupt central nervous system development. Hum Mutat (2011) 1.54
Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence. Hum Mutat (2014) 1.53
Infant sex, obstetric risk factors, and 2-year neurodevelopmental outcome among preterm infants. Dev Med Child Neurol (2009) 1.52
Nuclear outsourcing of RNA interference components to human mitochondria. PLoS One (2011) 1.49
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. Hum Mutat (2009) 1.48
NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype. Hum Mutat (2010) 1.47
Delayed bone age due to a dual effect of FGFR3 mutation in Achondroplasia. Bone (2010) 1.46
CTG trinucleotide repeat "big jumps": large expansions, small mice. PLoS Genet (2007) 1.46
Pre-implantation genetic diagnosis in pulmonary arterial hypertension due to BMPR2 mutation. Eur Respir J (2012) 1.45
Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome. Am J Hum Genet (2004) 1.45
Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance. Am J Med Genet (2002) 1.45
Redistribution of accumulated cell iron: a modality of chelation with therapeutic implications. Blood (2007) 1.44
The place of 'social sexing' in medicine and science. Hum Reprod (2002) 1.44
Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling. Hum Mutat (2007) 1.44