Published in Am J Hum Genet on December 09, 2011
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Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. Hum Genet (2013) 1.69
Scoring a backstage pass: mechanisms of ciliogenesis and ciliary access. J Cell Biol (2012) 1.55
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Hypomorphism for RPGRIP1L, a ciliary gene vicinal to the FTO locus, causes increased adiposity in mice. Cell Metab (2014) 1.42
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. Am J Hum Genet (2012) 1.32
Functional aspects of primary cilia in signaling, cell cycle and tumorigenesis. Cilia (2013) 1.28
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Current insights into renal ciliopathies: what can genetics teach us? Pediatr Nephrol (2012) 1.08
Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy. Am J Hum Genet (2013) 1.07
The transition zone: an essential functional compartment of cilia. Cilia (2012) 1.02
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. Nat Cell Biol (2015) 1.02
Cby1 promotes Ahi1 recruitment to a ring-shaped domain at the centriole-cilium interface and facilitates proper cilium formation and function. Mol Biol Cell (2014) 1.01
A population-based study of autosomal-recessive disease-causing mutations in a founder population. Am J Hum Genet (2012) 1.00
Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain. PLoS Genet (2013) 1.00
Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome. Am J Hum Genet (2014) 0.99
Superresolution Pattern Recognition Reveals the Architectural Map of the Ciliary Transition Zone. Sci Rep (2015) 0.96
TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone. J Cell Biol (2015) 0.96
Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans. Am J Hum Genet (2013) 0.95
NPHP4 controls ciliary trafficking of membrane proteins and large soluble proteins at the transition zone. J Cell Sci (2014) 0.95
Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies. Cilia (2012) 0.93
Ciliopathies: the trafficking connection. Traffic (2014) 0.93
TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome. Nat Cell Biol (2015) 0.91
An estimate of the average number of recessive lethal mutations carried by humans. Genetics (2015) 0.91
The ciliary transition zone functions in cell adhesion but is dispensable for axoneme assembly in C. elegans. J Cell Biol (2015) 0.90
Compartments within a compartment: what C. elegans can tell us about ciliary subdomain composition, biogenesis, function, and disease. Organogenesis (2014) 0.89
Ciliopathy proteins establish a bipartite signaling compartment in a C. elegans thermosensory neuron. J Cell Sci (2014) 0.89
Conserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary Signaling. PLoS Genet (2015) 0.87
Forward genetics uncovers Transmembrane protein 107 as a novel factor required for ciliogenesis and Sonic hedgehog signaling. Dev Biol (2012) 0.87
Cilia and coordination of signaling networks during heart development. Organogenesis (2013) 0.87
Cilium transition zone proteome reveals compartmentalization and differential dynamics of ciliopathy complexes. Proc Natl Acad Sci U S A (2016) 0.86
Investigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndrome. PLoS One (2012) 0.83
Genetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing. Genome Med (2013) 0.83
Transmembrane protein OSTA-1 shapes sensory cilia morphology via regulation of intracellular membrane trafficking in C. elegans. Development (2013) 0.82
Bioinformatic analysis of ciliary transition zone proteins reveals insights into the evolution of ciliopathy networks. BMC Genomics (2014) 0.82
The Ciliary Transition Zone: Finding the Pieces and Assembling the Gate. Mol Cells (2017) 0.82
MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone. PLoS Biol (2016) 0.81
CPAP promotes timely cilium disassembly to maintain neural progenitor pool. EMBO J (2016) 0.81
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. Am J Hum Genet (2015) 0.81
Visual Cone Arrestin 4 Contributes to Visual Function and Cone Health. Invest Ophthalmol Vis Sci (2015) 0.79
Disclosure of genetic research results to members of a founder population. J Genet Couns (2014) 0.78
The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway. Dis Model Mech (2015) 0.78
Combining fetal sonography with genetic and allele pathogenicity studies to secure a neonatal diagnosis of Bardet-Biedl syndrome. Clin Genet (2012) 0.77
Mutation spectrum of Joubert syndrome and related disorders among Arabs. Hum Genome Var (2014) 0.77
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center. Genet Med (2017) 0.77
The hydrolethalus syndrome protein HYLS-1 regulates formation of the ciliary gate. Nat Commun (2016) 0.76
Eyes shut homolog is required for maintaining the ciliary pocket and survival of photoreceptors in zebrafish. Biol Open (2016) 0.76
Cystic kidney diseases: many ways to form a cyst. Pediatr Nephrol (2012) 0.76
A Screen for Modifiers of Cilia Phenotypes Reveals Novel MKS Alleles and Uncovers a Specific Genetic Interaction between osm-3 and nphp-4. PLoS Genet (2016) 0.76
INPP5E regulates phosphoinositide-dependent cilia transition zone function. J Cell Biol (2016) 0.76
Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies. J Med Genet (2015) 0.75
Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite population. Mol Genet Genomic Med (2016) 0.75
La-related protein 6 controls ciliated cell differentiation. Cilia (2017) 0.75
Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome. Am J Hum Genet (2017) 0.75
Review of literature: genes related to postaxial polydactyly. Front Pediatr (2015) 0.75
Ciliopathies: Genetics in Pediatric Medicine. J Pediatr Genet (2016) 0.75
Bridging the gap: a Canadian perspective on translational kidney research. Can J Kidney Health Dis (2014) 0.75
The nephronophthisis-related gene ift-139 is required for ciliogenesis in Caenorhabditis elegans. Sci Rep (2016) 0.75
A homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: a case report. J Med Case Rep (2015) 0.75
In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations. Cell Rep (2017) 0.75
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. Am J Hum Genet (2017) 0.75
Genes and molecular pathways underpinning ciliopathies. Nat Rev Mol Cell Biol (2017) 0.75
A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. Cell (2007) 10.75
High-resolution in situ hybridization to whole-mount zebrafish embryos. Nat Protoc (2008) 10.25
A second canon. Functions and mechanisms of beta-catenin-independent Wnt signaling. Dev Cell (2003) 7.93
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The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat Genet (2006) 5.36
Dishevelled controls cell polarity during Xenopus gastrulation. Nature (2000) 4.91
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nat Genet (2008) 4.68
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet (2007) 4.63
Shaping the vertebrate body plan by polarized embryonic cell movements. Science (2002) 4.35
Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response. Nat Genet (2007) 4.24
Ciliogenesis defects in embryos lacking inturned or fuzzy function are associated with failure of planar cell polarity and Hedgehog signaling. Nat Genet (2006) 3.97
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nat Genet (2006) 3.97
Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell (2011) 3.95
Dishevelled controls apical docking and planar polarization of basal bodies in ciliated epithelial cells. Nat Genet (2008) 3.84
The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia. Cell (2010) 3.83
Osmotic avoidance defective mutants of the nematode Caenorhabditis elegans. Genetics (1978) 3.82
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet (2010) 3.66
Drosophila Rho-associated kinase (Drok) links Frizzled-mediated planar cell polarity signaling to the actin cytoskeleton. Cell (2001) 3.65
A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. Nat Genet (2011) 3.57
The proteome of the mouse photoreceptor sensory cilium complex. Mol Cell Proteomics (2007) 3.53
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
Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport. Genes Dev (2004) 3.21
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. Nat Genet (2006) 3.19
MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis. J Cell Biol (2011) 3.11
Joubert Syndrome and related disorders. Orphanet J Rare Dis (2010) 3.10
A transcriptional response to Wnt protein in human embryonic carcinoma cells. BMC Dev Biol (2002) 3.09
The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. Hum Mol Genet (2006) 3.06
Making sense of cilia in disease: the human ciliopathies. Am J Med Genet C Semin Med Genet (2009) 3.05
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am J Hum Genet (2006) 2.96
Protein kinase A phosphorylation of RhoA mediates the morphological and functional effects of cyclic AMP in cytotoxic lymphocytes. EMBO J (1996) 2.94
Ciliary dysfunction in developmental abnormalities and diseases. Curr Top Dev Biol (2008) 2.88
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. Nat Genet (2009) 2.72
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. Am J Hum Genet (2008) 2.68
Nephronophthisis: disease mechanisms of a ciliopathy. J Am Soc Nephrol (2008) 2.66
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. Am J Hum Genet (2008) 2.65
Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. Nat Genet (2000) 2.53
TSPAN12 regulates retinal vascular development by promoting Norrin- but not Wnt-induced FZD4/beta-catenin signaling. Cell (2009) 2.53
The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. Am J Hum Genet (2004) 2.47
Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome. Proc Natl Acad Sci U S A (2010) 2.45
Ftm is a novel basal body protein of cilia involved in Shh signalling. Development (2007) 2.25
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. Nat Genet (2010) 2.12
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. Ann Neurol (2006) 1.89
Impaired Wnt-beta-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy. Nat Med (2009) 1.86
Normal ciliogenesis requires synergy between the cystic kidney disease genes MKS-3 and NPHP-4. J Am Soc Nephrol (2010) 1.85
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. Am J Hum Genet (2009) 1.83
Ciliary biology: understanding the cellular and genetic basis of human ciliopathies. Am J Med Genet C Semin Med Genet (2009) 1.81
Clinical and molecular features of Joubert syndrome and related disorders. Am J Med Genet C Semin Med Genet (2009) 1.66
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. J Clin Invest (2011) 1.60
Joubert syndrome Arl13b functions at ciliary membranes and stabilizes protein transport in Caenorhabditis elegans. J Cell Biol (2010) 1.60
Functional redundancy of the B9 proteins and nephrocystins in Caenorhabditis elegans ciliogenesis. Mol Biol Cell (2008) 1.59
Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton. J Cell Sci (2009) 1.58
Proteomics of photoreceptor outer segments identifies a subset of SNARE and Rab proteins implicated in membrane vesicle trafficking and fusion. Mol Cell Proteomics (2008) 1.56
B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis. Hum Mol Genet (2011) 1.45
The C. elegans homologs of nephrocystin-1 and nephrocystin-4 are cilia transition zone proteins involved in chemosensory perception. J Cell Sci (2005) 1.44
Cilia in the nervous system: linking cilia function and neurodevelopmental disorders. Curr Opin Neurol (2011) 1.43
Disruption of a ciliary B9 protein complex causes Meckel syndrome. Am J Hum Genet (2011) 1.40
Nephronophthisis. Pediatr Nephrol (2010) 1.28
Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins. J Cell Sci (2009) 1.26
Mos1-mediated insertional mutagenesis in Caenorhabditis elegans. Nat Protoc (2007) 1.24
Functional characterization of the C. elegans nephrocystins NPHP-1 and NPHP-4 and their role in cilia and male sensory behaviors. Exp Cell Res (2005) 1.14
Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation. Am J Hum Genet (2009) 1.09
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Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects. Mol Neurobiol (2010) 0.96
The Meckel syndrome in the Hutterites. Am J Med Genet (1980) 0.90
Deciphering the structure and function of Als2cr4 in the mouse retina. Invest Ophthalmol Vis Sci (2010) 0.81
Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome. Am J Med Genet A (2007) 0.81
Joubert-like syndrome unlinked to known candidate loci. J Pediatr (2004) 0.79
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15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet (2009) 6.21
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Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nat Genet (2008) 4.68
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Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia. Nature (2011) 4.56
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet (2012) 4.51
Toll-like receptor 3 and geographic atrophy in age-related macular degeneration. N Engl J Med (2008) 4.46
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RePS: a sequence assembler that masks exact repeats identified from the shotgun data. Genome Res (2002) 4.35
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification. Nat Genet (2003) 4.34
Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. Proc Natl Acad Sci U S A (2010) 4.30
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Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response. Nat Genet (2007) 4.24
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HaploPainter: a tool for drawing pedigrees with complex haplotypes. Bioinformatics (2004) 4.00
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet (2010) 3.99
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain (2009) 3.96
Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema. Nat Genet (2007) 3.94
The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia. Nat Genet (2006) 3.87
Whole-genome and whole-exome sequencing of bladder cancer identifies frequent alterations in genes involved in sister chromatid cohesion and segregation. Nat Genet (2013) 3.87
The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression. Nat Genet (2004) 3.86
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Seven new loci associated with age-related macular degeneration. Nat Genet (2013) 3.81
Paternally inherited HLA alleles are associated with women's choice of male odor. Nat Genet (2002) 3.79
Cross-regulation between Notch and p63 in keratinocyte commitment to differentiation. Genes Dev (2006) 3.72
Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations. Nat Genet (2011) 3.68