Published in Nat Genet on May 08, 2011
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature (2011) 4.85
The kinesin-4 protein Kif7 regulates mammalian Hedgehog signalling by organizing the cilium tip compartment. Nat Cell Biol (2014) 2.63
Joubert syndrome: congenital cerebellar ataxia with the molar tooth. Lancet Neurol (2013) 1.83
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TCTN3 mutations cause Mohr-Majewski syndrome. Am J Hum Genet (2012) 1.29
Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI. Orphanet J Rare Dis (2012) 1.15
Primary cilia in neurodevelopmental disorders. Nat Rev Neurol (2013) 1.14
Current insights into renal ciliopathies: what can genetics teach us? Pediatr Nephrol (2012) 1.08
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New insights into genotype-phenotype correlation for GLI3 mutations. Eur J Hum Genet (2014) 1.05
A systems-biology approach to understanding the ciliopathy disorders. Genome Med (2011) 1.04
In vivo modeling of the morbid human genome using Danio rerio. J Vis Exp (2013) 1.03
Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity. Am J Hum Genet (2011) 1.02
Infantile hydrocephalus: a review of epidemiology, classification and causes. Eur J Med Genet (2014) 1.01
Mutations in mouse Ift144 model the craniofacial, limb and rib defects in skeletal ciliopathies. Hum Mol Genet (2012) 1.00
Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators. J Clin Invest (2014) 1.00
Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome. Am J Hum Genet (2014) 0.99
Cellular genomics for complex traits. Nat Rev Genet (2012) 0.97
The ciliogenic transcription factor RFX3 regulates early midline distribution of guidepost neurons required for corpus callosum development. PLoS Genet (2012) 0.96
Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome/Meckel syndrome. Proc Natl Acad Sci U S A (2012) 0.94
Positive and negative regulation of Gli activity by Kif7 in the zebrafish embryo. PLoS Genet (2013) 0.93
DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia. PLoS Genet (2016) 0.92
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome. Am J Hum Genet (2015) 0.92
A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance. Orphanet J Rare Dis (2012) 0.90
The Hedgehog pathway: role in cell differentiation, polarity and proliferation. Arch Toxicol (2015) 0.88
Structural insights into human Kif7, a kinesin involved in Hedgehog signalling. Acta Crystallogr D Biol Crystallogr (2012) 0.88
Molecular pathogenesis of congenital diaphragmatic hernia revealed by exome sequencing, developmental data, and bioinformatics. Proc Natl Acad Sci U S A (2014) 0.86
Kif7 is required for the patterning and differentiation of the diaphragm in a model of syndromic congenital diaphragmatic hernia. Proc Natl Acad Sci U S A (2013) 0.85
A large duplication involving the IHH locus mimics acrocallosal syndrome. Eur J Hum Genet (2012) 0.85
Investigation of genetic factors underlying typical orofacial clefts: mutational screening and copy number variation. J Hum Genet (2014) 0.81
Can't get there from here: cilia and hydrocephalus. Nat Med (2012) 0.80
Downregulation of the gli transcription factors regulator Kif7 facilitates cell survival and migration of choriocarcinoma cells. PLoS One (2014) 0.79
Developmental disruptions underlying brain abnormalities in ciliopathies. Nat Commun (2015) 0.79
Mutational analysis of hedgehog signaling pathway genes in human malignant mesothelioma. PLoS One (2013) 0.79
Sonic Hedgehog Signaling and VACTERL Association. Mol Syndromol (2013) 0.79
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. Am J Hum Genet (2016) 0.78
Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network. Genome Res (2016) 0.77
Mutation spectrum of Joubert syndrome and related disorders among Arabs. Hum Genome Var (2014) 0.77
Recurrent KIF2A mutations are responsible for classic lissencephaly. Neurogenetics (2016) 0.77
A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome. Am J Hum Genet (2016) 0.77
Structural basis for misregulation of kinesin KIF21A autoinhibition by CFEOM1 disease mutations. Sci Rep (2016) 0.76
Microtubule Motors Drive Hedgehog Signaling in Primary Cilia. Trends Cell Biol (2016) 0.76
Ubr3, a Novel Modulator of Hh Signaling Affects the Degradation of Costal-2 and Kif7 through Poly-ubiquitination. PLoS Genet (2016) 0.76
The many faces of KIF7. Hum Genome Var (2015) 0.76
T-box3 is a ciliary protein and regulates stability of the Gli3 transcription factor to control digit number. Elife (2016) 0.76
Mapping Breakpoints of Complex Chromosome Rearrangements Involving a Partial Trisomy 15q23.1-q26.2 Revealed by Next Generation Sequencing and Conventional Techniques. PLoS One (2016) 0.75
Novel KIF7 Mutation in a Tunisian Boy with Acrocallosal Syndrome: Case Report and Review of the Literature. Mol Syndromol (2015) 0.75
Brain Dysplasia Associated with Ciliary Dysfunction in Infants with Congenital Heart Disease. J Pediatr (2016) 0.75
Review of literature: genes related to postaxial polydactyly. Front Pediatr (2015) 0.75
Genes and molecular pathways underpinning ciliopathies. Nat Rev Mol Cell Biol (2017) 0.75
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects. Am J Hum Genet (2017) 0.75
Effective targeted gene 'knockdown' in zebrafish. Nat Genet (2000) 14.40
The primary cilium: a signalling centre during vertebrate development. Nat Rev Genet (2010) 8.81
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
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet (2010) 3.66
Functional genomic screen for modulators of ciliogenesis and cilium length. Nature (2010) 3.63
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet (2009) 3.36
Hallux duplication, postaxial polydactyly, absence of the corpus callosum, severe mental retardation, and additional anomalies in two unrelated patients: a new syndrome. Am J Med Genet (1980) 3.18
Hedgehog elicits signal transduction by means of a large complex containing the kinesin-related protein costal2. Cell (1997) 3.06
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet (2011) 3.06
Making sense of cilia in disease: the human ciliopathies. Am J Med Genet C Semin Med Genet (2009) 3.05
Dissection of epistasis in oligogenic Bardet-Biedl syndrome. Nature (2005) 2.90
The mammalian Cos2 homolog Kif7 plays an essential role in modulating Hh signal transduction during development. Curr Biol (2009) 2.63
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
Multiple muscle cell identities induced by distinct levels and timing of hedgehog activity in the zebrafish embryo. Curr Biol (2003) 2.17
The hydrolethalus syndrome: delineation of a "new", lethal malformation syndrome based on 28 patients. Clin Genet (1981) 2.15
The kinesin protein Kif7 is a critical regulator of Gli transcription factors in mammalian hedgehog signaling. Sci Signal (2009) 2.05
Mouse Kif7/Costal2 is a cilia-associated protein that regulates Sonic hedgehog signaling. Proc Natl Acad Sci U S A (2009) 1.95
Gas1 extends the range of Hedgehog action by facilitating its signaling. Genes Dev (2007) 1.74
Fused has evolved divergent roles in vertebrate Hedgehog signalling and motile ciliogenesis. Nature (2009) 1.69
The acrocallosal syndrome in sisters. Clin Genet (1986) 1.55
A homologue of the Drosophila kinesin-like protein Costal2 regulates Hedgehog signal transduction in the vertebrate embryo. Development (2005) 1.45
The hydrolethalus syndrome protein HYLS-1 links core centriole structure to cilia formation. Genes Dev (2009) 1.23
Hedgehog signal transduction proteins: contacts of the Fused kinase and Ci transcription factor with the kinesin-related protein Costal2. BMC Dev Biol (2002) 1.14
CSPP is a ciliary protein interacting with Nephrocystin 8 and required for cilia formation. Mol Biol Cell (2010) 1.10
Hedgehog signaling: Costal-2 bridges the transduction gap. Curr Biol (2004) 1.01
Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1. Hum Mol Genet (2005) 0.92
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
A lineage of myeloid cells independent of Myb and hematopoietic stem cells. Science (2012) 8.42
Lamin a truncation in Hutchinson-Gilford progeria. Science (2003) 8.01
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
Human CD14dim monocytes patrol and sense nucleic acids and viruses via TLR7 and TLR8 receptors. Immunity (2010) 5.43
Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma. Nature (2008) 5.32
The vertebrate primary cilium in development, homeostasis, and disease. Cell (2009) 5.29
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
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
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
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science (2008) 4.04
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet (2010) 3.99
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet (2003) 3.96
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
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. J Exp Med (2008) 3.85
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
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. J Exp Med (2011) 3.63
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
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am J Hum Genet (2007) 3.42
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
Activation of IFN pathways and plasmacytoid dendritic cell recruitment in target organs of primary Sjögren's syndrome. Proc Natl Acad Sci U S A (2006) 3.11
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
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
Making sense of cilia in disease: the human ciliopathies. Am J Med Genet C Semin Med Genet (2009) 3.05
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nat Genet (2009) 3.03
IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. Nat Genet (2007) 2.98
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am J Hum Genet (2006) 2.96
Ciliopathies: an expanding disease spectrum. Pediatr Nephrol (2011) 2.95
Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis. N Engl J Med (2011) 2.93
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
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. Nat Genet (2012) 2.86
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