Published in Development on February 01, 2012
The continuing challenge of understanding, preventing, and treating neural tube defects. Science (2013) 1.86
The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. Nat Genet (2016) 1.55
Functional aspects of primary cilia in signaling, cell cycle and tumorigenesis. Cilia (2013) 1.28
Arl13b-regulated cilia activities are essential for polarized radial glial scaffold formation. Nat Neurosci (2013) 1.14
Molecular connections between nuclear and ciliary import processes. Cilia (2013) 1.04
TTC26/DYF13 is an intraflagellar transport protein required for transport of motility-related proteins into flagella. Elife (2014) 1.02
An inducible CiliaGFP mouse model for in vivo visualization and analysis of cilia in live tissue. Cilia (2013) 0.99
CYLD mediates ciliogenesis in multiple organs by deubiquitinating Cep70 and inactivating HDAC6. Cell Res (2014) 0.99
The MIA complex is a conserved and novel dynein regulator essential for normal ciliary motility. J Cell Biol (2013) 0.98
Deacetylation of α-tubulin and cortactin is required for HDAC6 to trigger ciliary disassembly. Sci Rep (2015) 0.94
Reduced cilia frequencies in human renal cell carcinomas versus neighboring parenchymal tissue. Cilia (2013) 0.94
Mouse models of ciliopathies: the state of the art. Dis Model Mech (2012) 0.94
Regulation of Sufu activity by p66β and Mycbp provides new insight into vertebrate Hedgehog signaling. Genes Dev (2014) 0.91
Symmetry breakage in the vertebrate embryo: when does it happen and how does it work? Dev Biol (2014) 0.91
Function and regulation of primary cilia and intraflagellar transport proteins in the skeleton. Ann N Y Acad Sci (2014) 0.90
ATMIN is a transcriptional regulator of both lung morphogenesis and ciliogenesis. Development (2014) 0.90
Katanin p80 regulates human cortical development by limiting centriole and cilia number. Neuron (2014) 0.89
Cilia and cilia-associated proteins in cancer. Drug Discov Today Dis Mech (2013) 0.87
A simple cell-based assay reveals that diverse neuropsychiatric risk genes converge on primary cilia. PLoS One (2012) 0.87
SDCCAG8 regulates pericentriolar material recruitment and neuronal migration in the developing cortex. Neuron (2014) 0.86
Beta cell connectivity in pancreatic islets: a type 2 diabetes target? Cell Mol Life Sci (2014) 0.85
Extrahepatic cholangiocyte cilia are abnormal in biliary atresia. J Pediatr Gastroenterol Nutr (2013) 0.85
Evidence for reciliation of RPE1 cells in late G1 phase, and ciliary localisation of cyclin B1. FEBS Open Bio (2013) 0.83
MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone. PLoS Biol (2016) 0.81
The Chlamydomonas mutant pf27 reveals novel features of ciliary radial spoke assembly. Cytoskeleton (Hoboken) (2013) 0.81
Mammalian axoneme central pair complex proteins: Broader roles revealed by gene knockout phenotypes. Cytoskeleton (Hoboken) (2016) 0.81
Loss of primary cilia in melanoma cells is likely independent of proliferation and cell cycle progression. J Invest Dermatol (2015) 0.80
Metabolic regulation and energy homeostasis through the primary Cilium. Cell Metab (2014) 0.80
Functional interplay between cylindromatosis and histone deacetylase 6 in ciliary homeostasis revealed by phenotypic analysis of double knockout mice. Oncotarget (2016) 0.80
Developmental disruptions underlying brain abnormalities in ciliopathies. Nat Commun (2015) 0.79
The Rilp-like proteins Rilpl1 and Rilpl2 regulate ciliary membrane content. Mol Biol Cell (2012) 0.79
A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology. Am J Hum Genet (2015) 0.79
The Role of RPGR and Its Interacting Proteins in Ciliopathies. J Ophthalmol (2015) 0.79
A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi. Nat Commun (2016) 0.78
Characterization of tetratricopeptide repeat-containing proteins critical for cilia formation and function. PLoS One (2015) 0.78
Regulation of polycystin-1 ciliary trafficking by motifs at its C-terminus and polycystin-2 but not by cleavage at the GPS site. J Cell Sci (2015) 0.78
Primary cilia modulate balance of canonical and non-canonical Wnt signaling responses in the injured kidney. Fibrogenesis Tissue Repair (2015) 0.77
Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis. J Cell Sci (2015) 0.77
Planar Organization of Multiciliated Ependymal (E1) Cells in the Brain Ventricular Epithelium. Trends Neurosci (2016) 0.77
Dido mutations trigger perinatal death and generate brain abnormalities and behavioral alterations in surviving adult mice. Proc Natl Acad Sci U S A (2015) 0.76
Identification and characterization of a novel allele of Caenorhabditis elegans bbs-7. PLoS One (2014) 0.76
Cilia develop long-lasting contacts, with other cilia. Cilia (2012) 0.76
Iqcg is essential for sperm flagellum formation in mice. PLoS One (2014) 0.76
Centriole splitting caused by loss of the centrosomal linker protein C-NAP1 reduces centriolar satellite density and impedes centrosome amplification. Mol Biol Cell (2017) 0.76
Primary cilia are sensors of electrical field stimulation to induce osteogenesis of human adipose-derived stem cells. FASEB J (2016) 0.75
Protein quality control by Rer1p in the early secretory pathway: from mechanism to implication in Alzheimer's disease. Alzheimers Res Ther (2013) 0.75
IFT56 regulates vertebrate developmental patterning by maintaining IFTB complex integrity and ciliary microtubule architecture. Development (2017) 0.75
BBS4 is necessary for ciliary localization of TrkB receptor and activation by BDNF. PLoS One (2014) 0.75
RC/BTB2 is essential for formation of primary cilia in mammalian cells. Cytoskeleton (Hoboken) (2015) 0.75
PACRG, a protein linked to ciliary motility, mediates cellular signaling. Mol Biol Cell (2016) 0.75
Phosphorylation-dependent Akt-Inversin interaction at the basal body of primary cilia. EMBO J (2016) 0.75
In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations. Cell Rep (2017) 0.75
INTU is essential for oncogenic Hh signaling through regulating primary cilia formation in basal cell carcinoma. Oncogene (2017) 0.75
Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells. Nat Genet (2003) 13.33
The ciliopathies: an emerging class of human genetic disorders. Annu Rev Genomics Hum Genet (2006) 9.56
Vertebrate Smoothened functions at the primary cilium. Nature (2005) 9.24
Patched1 regulates hedgehog signaling at the primary cilium. Science (2007) 9.21
Proteomic characterization of the human centrosome by protein correlation profiling. Nature (2003) 8.74
Hedgehog signalling in the mouse requires intraflagellar transport proteins. Nature (2003) 8.38
When cilia go bad: cilia defects and ciliopathies. Nat Rev Mol Cell Biol (2007) 8.28
Randomization of left-right asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3B motor protein. Cell (1998) 8.16
Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways. Nat Genet (2005) 6.67
Proteomic analysis of a eukaryotic cilium. J Cell Biol (2005) 6.54
A motility in the eukaryotic flagellum unrelated to flagellar beating. Proc Natl Acad Sci U S A (1993) 6.50
Ciliopathies. N Engl J Med (2011) 6.28
Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. Cell (2004) 6.10
Bending the MDCK cell primary cilium increases intracellular calcium. J Membr Biol (2001) 5.42
The graded response to Sonic Hedgehog depends on cilia architecture. Dev Cell (2007) 5.35
The vertebrate primary cilium in development, homeostasis, and disease. Cell (2009) 5.29
The Hedgehog response network: sensors, switches, and routers. Science (2004) 5.20
Kif3a constrains beta-catenin-dependent Wnt signalling through dual ciliary and non-ciliary mechanisms. Nat Cell Biol (2007) 5.09
Decoding cilia function: defining specialized genes required for compartmentalized cilia biogenesis. Cell (2004) 5.02
Overview of structure and function of mammalian cilia. Annu Rev Physiol (2007) 4.90
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. Nat Genet (2005) 4.76
Two populations of node monocilia initiate left-right asymmetry in the mouse. Cell (2003) 4.73
Flagellar motility is required for the viability of the bloodstream trypanosome. Nature (2006) 4.71
Cilia-driven fluid flow in the zebrafish pronephros, brain and Kupffer's vesicle is required for normal organogenesis. Development (2005) 4.64
Mouse intraflagellar transport proteins regulate both the activator and repressor functions of Gli transcription factors. Development (2005) 4.32
Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response. Nat Genet (2007) 4.24
The intraflagellar transport protein IFT20 is associated with the Golgi complex and is required for cilia assembly. Mol Biol Cell (2006) 4.18
Regulators of the cytoplasmic dynein motor. Nat Rev Mol Cell Biol (2009) 4.05
PDGFRalphaalpha signaling is regulated through the primary cilium in fibroblasts. Curr Biol (2005) 4.04
In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse. Hum Mol Genet (2006) 3.90
The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia. Nat Genet (2006) 3.87
Dishevelled controls apical docking and planar polarization of basal bodies in ciliated epithelial cells. Nat Genet (2008) 3.84
The primary cilium as a complex signaling center. Curr Biol (2009) 3.73
Loss of the retrograde motor for IFT disrupts localization of Smo to cilia and prevents the expression of both activator and repressor functions of Gli. Dev Biol (2005) 3.63
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
Nodal flow and the generation of left-right asymmetry. Cell (2006) 3.52
FGF-induced vesicular release of Sonic hedgehog and retinoic acid in leftward nodal flow is critical for left-right determination. Nature (2005) 3.50
Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. Am J Hum Genet (2010) 3.47
Hedgehog signaling and primary cilia are required for the formation of adult neural stem cells. Nat Neurosci (2008) 3.46
Modifier genes in mice and humans. Nat Rev Genet (2001) 3.31
A proteomic analysis of human cilia: identification of novel components. Mol Cell Proteomics (2002) 3.23
Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia. Proc Natl Acad Sci U S A (2008) 3.21
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. Nat Genet (2006) 3.19
Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias. Nat Rev Genet (2001) 3.15
Functional genomics of the cilium, a sensory organelle. Curr Biol (2005) 3.11
Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin. Proc Natl Acad Sci U S A (2004) 3.11
Making sense of cilia in disease: the human ciliopathies. Am J Med Genet C Semin Med Genet (2009) 3.05
Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly. Proc Natl Acad Sci U S A (2004) 3.01
Mechanism of nodal flow: a conserved symmetry breaking event in left-right axis determination. Cell (2005) 3.01
Primary cilia can both mediate and suppress Hedgehog pathway-dependent tumorigenesis. Nat Med (2009) 2.99
Intraflagellar transport is required for polarized recycling of the TCR/CD3 complex to the immune synapse. Nat Cell Biol (2009) 2.94
Proteomic analysis of isolated chlamydomonas centrioles reveals orthologs of ciliary-disease genes. Curr Biol (2005) 2.86
Selective targeting of somatostatin receptor 3 to neuronal cilia. Neuroscience (1999) 2.84
Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. Nat Genet (2004) 2.84
Dual and opposing roles of primary cilia in medulloblastoma development. Nat Med (2009) 2.73
Vangl2 directs the posterior tilting and asymmetric localization of motile primary cilia. Nat Cell Biol (2010) 2.68
Coupling between hydrodynamic forces and planar cell polarity orients mammalian motile cilia. Nat Cell Biol (2010) 2.67
The output of Hedgehog signaling is controlled by the dynamic association between Suppressor of Fused and the Gli proteins. Genes Dev (2010) 2.60
Cilium-independent regulation of Gli protein function by Sufu in Hedgehog signaling is evolutionarily conserved. Genes Dev (2009) 2.59
Removal of the MDCK cell primary cilium abolishes flow sensing. J Membr Biol (2003) 2.46
Intraflagellar transport motors in cilia: moving along the cell's antenna. J Cell Biol (2008) 2.44
De novo formation of left-right asymmetry by posterior tilt of nodal cilia. PLoS Biol (2005) 2.42
Subcellular spatial regulation of canonical Wnt signalling at the primary cilium. Nat Cell Biol (2011) 2.40
Analysis of xbx genes in C. elegans. Development (2005) 2.39
Primary cilia are required for cerebellar development and Shh-dependent expansion of progenitor pool. Dev Biol (2008) 2.38
A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity. Proc Natl Acad Sci U S A (2007) 2.36
INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse. Nat Genet (2009) 2.26
Ftm is a novel basal body protein of cilia involved in Shh signalling. Development (2007) 2.25
Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification. Nat Genet (2005) 2.24
Localization of 5-HT(6) receptors at the plasma membrane of neuronal cilia in the rat brain. Brain Res (2000) 2.13
Genome-wide transcriptional analysis of flagellar regeneration in Chlamydomonas reinhardtii identifies orthologs of ciliary disease genes. Proc Natl Acad Sci U S A (2005) 2.09
Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome. Hum Mol Genet (2005) 2.04
Dampened Hedgehog signaling but normal Wnt signaling in zebrafish without cilia. Development (2009) 1.93
FGF signalling during embryo development regulates cilia length in diverse epithelia. Nature (2009) 1.91
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. Nat Genet (2010) 1.89
Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. Am J Hum Genet (2010) 1.86
Impaired Wnt-beta-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy. Nat Med (2009) 1.86
Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome. Nat Med (2011) 1.84
Planar polarization of node cells determines the rotational axis of node cilia. Nat Cell Biol (2010) 1.83
Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome. Proc Natl Acad Sci U S A (2008) 1.78
Analysis of mouse embryonic patterning and morphogenesis by forward genetics. Proc Natl Acad Sci U S A (2005) 1.77
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
Cholangiocyte cilia express TRPV4 and detect changes in luminal tonicity inducing bicarbonate secretion. Proc Natl Acad Sci U S A (2007) 1.72
Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus. Hum Mol Genet (2002) 1.69
Targeted deletion of the ATP binding domain of left-right dynein confirms its role in specifying development of left-right asymmetries. Development (1999) 1.67
Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3. Hum Mol Genet (2009) 1.61
The cilia protein IFT88 is required for spindle orientation in mitosis. Nat Cell Biol (2011) 1.61
Cholangiocyte primary cilia are chemosensory organelles that detect biliary nucleotides via P2Y12 purinergic receptors. Am J Physiol Gastrointest Liver Physiol (2008) 1.56
A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling. Hum Mol Genet (2009) 1.55
Human embryonic stem cells in culture possess primary cilia with hedgehog signaling machinery. J Cell Biol (2008) 1.52
Role of primary cilia in brain development and cancer. Curr Opin Neurobiol (2010) 1.49
OLFACTORY CILIA IN THE FROG. J Cell Biol (1965) 1.48
Convergent extension movements and ciliary function are mediated by ofd1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene. Hum Mol Genet (2008) 1.46
Primary cilia are not required for normal canonical Wnt signaling in the mouse embryo. PLoS One (2009) 1.44
TRPV4 channel participates in receptor-operated calcium entry and ciliary beat frequency regulation in mouse airway epithelial cells. Proc Natl Acad Sci U S A (2008) 1.36
Loss of Bardet Biedl syndrome proteins causes defects in peripheral sensory innervation and function. Proc Natl Acad Sci U S A (2007) 1.32
Mouse models of polycystic kidney disease. Curr Top Dev Biol (2008) 1.27
Preservation of photoreceptor morphology and function in P23H rats using an allele independent ribozyme. Exp Eye Res (2006) 1.23
Conditional deletion of dnaic1 in a murine model of primary ciliary dyskinesia causes chronic rhinosinusitis. Am J Respir Cell Mol Biol (2009) 1.22
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet (2005) 9.62
The ciliopathies: an emerging class of human genetic disorders. Annu Rev Genomics Hum Genet (2006) 9.56
Ciliopathies. N Engl J Med (2011) 6.28
Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. Cell (2004) 6.10
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature (2003) 5.96
The vertebrate primary cilium in development, homeostasis, and disease. Cell (2009) 5.29
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. Nat Genet (2005) 4.76
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nat Genet (2008) 4.68
Toll-like receptor 3 and geographic atrophy in age-related macular degeneration. N Engl J Med (2008) 4.46
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
Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response. Nat Genet (2007) 4.24
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet (2010) 3.99
The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia. Nat Genet (2006) 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
Seven new loci associated with age-related macular degeneration. Nat Genet (2013) 3.81
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet (2010) 3.66
A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. Nat Genet (2011) 3.57
A rare penetrant mutation in CFH confers high risk of age-related macular degeneration. Nat Genet (2011) 3.55
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet (2009) 3.36
Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC). Proc Natl Acad Sci U S A (2010) 3.33
Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport. Genes Dev (2004) 3.21
Beyond Mendel: an evolving view of human genetic disease transmission. Nat Rev Genet (2002) 3.19
Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. J Clin Invest (2009) 3.19
The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. Hum Mol Genet (2006) 3.06
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet (2011) 3.06
Dissection of epistasis in oligogenic Bardet-Biedl syndrome. Nature (2005) 2.90
Planar cell polarity acts through septins to control collective cell movement and ciliogenesis. Science (2010) 2.89
Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. Nat Genet (2004) 2.84
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet (2006) 2.68
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. Am J Hum Genet (2008) 2.68
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome. Nat Genet (2004) 2.64
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell (2012) 2.54
KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant. Nature (2012) 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
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. Am J Hum Genet (2006) 2.44
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. Am J Hum Genet (2003) 2.37
The centrosome in human genetic disease. Nat Rev Genet (2005) 2.25
Nde1-mediated inhibition of ciliogenesis affects cell cycle re-entry. Nat Cell Biol (2011) 2.15
Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p. Am J Hum Genet (2009) 2.14
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
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. Am J Hum Genet (2003) 2.04
Molecular genetic testing and the future of clinical genomics. Nat Rev Genet (2013) 2.03
Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. Am J Med Genet A (2005) 2.03
Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. Hum Mol Genet (2011) 1.98
Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus. Hum Mol Genet (2003) 1.87
Genetic and functional dissection of HTRA1 and LOC387715 in age-related macular degeneration. PLoS Genet (2010) 1.83
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration. Nat Genet (2013) 1.77
Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy. Nat Genet (2012) 1.75
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. Science (2012) 1.74
MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis. J Cell Sci (2005) 1.73
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone. Am J Hum Genet (2011) 1.65
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nat Genet (2011) 1.62
The emerging complexity of the vertebrate cilium: new functional roles for an ancient organelle. Dev Cell (2006) 1.59
Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination. N Engl J Med (2013) 1.56
Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophy. Hum Mutat (2010) 1.54
DISC1-dependent switch from progenitor proliferation to migration in the developing cortex. Nature (2011) 1.53
Linkage of a mild late-onset phenotype of Fuchs corneal dystrophy to a novel locus at 5q33.1-q35.2. Invest Ophthalmol Vis Sci (2009) 1.52
Recruitment of PCM1 to the centrosome by the cooperative action of DISC1 and BBS4: a candidate for psychiatric illnesses. Arch Gen Psychiatry (2008) 1.51
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. Am J Hum Genet (2013) 1.51
Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy. Am J Hum Genet (2012) 1.49
Population bottlenecks as a potential major shaping force of human genome architecture. PLoS Genet (2007) 1.47
A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa. Am J Hum Genet (2010) 1.46
Functional modules, mutational load and human genetic disease. Trends Genet (2010) 1.45
The ciliopathies: a transitional model into systems biology of human genetic disease. Curr Opin Genet Dev (2012) 1.44
Disruption of a ciliary B9 protein complex causes Meckel syndrome. Am J Hum Genet (2011) 1.40
Replication of the TCF4 intronic variant in late-onset Fuchs corneal dystrophy and evidence of independence from the FCD2 locus. Invest Ophthalmol Vis Sci (2011) 1.39
Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet-Biedl syndrome. Vision Res (2007) 1.33
Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity. Hum Genet (2006) 1.32
Loss of Bardet Biedl syndrome proteins causes defects in peripheral sensory innervation and function. Proc Natl Acad Sci U S A (2007) 1.32
Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy. PLoS One (2011) 1.30
A functional variant in the CFI gene confers a high risk of age-related macular degeneration. Nat Genet (2013) 1.29
Bardet-Biedl syndrome-associated small GTPase ARL6 (BBS3) functions at or near the ciliary gate and modulates Wnt signaling. J Biol Chem (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
Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome. Eur J Hum Genet (2010) 1.24
Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome. Am J Hum Genet (2012) 1.22
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. Am J Hum Genet (2013) 1.22
Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. J Clin Invest (2010) 1.20
Prevalence and severity of fuchs corneal dystrophy in Tangier Island. Am J Ophthalmol (2012) 1.19
Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals. Hum Genet (2010) 1.19
Pitchfork regulates primary cilia disassembly and left-right asymmetry. Dev Cell (2010) 1.18
ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. Am J Hum Genet (2013) 1.17
Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease. Proc Natl Acad Sci U S A (2009) 1.17
Progression of Fuchs corneal dystrophy in a family linked to the FCD1 locus. Invest Ophthalmol Vis Sci (2009) 1.16
Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes. Ophthalmology (2012) 1.16
Ciliary function and Wnt signal modulation. Curr Top Dev Biol (2008) 1.15
Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene. Proc Natl Acad Sci U S A (2013) 1.13
Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis. Proc Natl Acad Sci U S A (2014) 1.10
Age-severity relationships in families linked to FCD2 with retroillumination photography. Invest Ophthalmol Vis Sci (2010) 1.09
SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant. Am J Hum Genet (2013) 1.09
Mutations in AGBL1 cause dominant late-onset Fuchs corneal dystrophy and alter protein-protein interaction with TCF4. Am J Hum Genet (2013) 1.08
An essential role for DYF-11/MIP-T3 in assembling functional intraflagellar transport complexes. PLoS Genet (2008) 1.06
A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness. Am J Hum Genet (2010) 1.05
Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model. Nat Med (2012) 1.05
Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. Invest Ophthalmol Vis Sci (2011) 1.05
Loss of Bardet-Biedl syndrome protein-8 (BBS8) perturbs olfactory function, protein localization, and axon targeting. Proc Natl Acad Sci U S A (2011) 1.03
In vivo modeling of the morbid human genome using Danio rerio. J Vis Exp (2013) 1.03
OTX2 mutations contribute to the otocephaly-dysgnathia complex. J Med Genet (2012) 1.02
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