Genetic basis of Joubert syndrome and related disorders of cerebellar development.

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Subcellular spatial regulation of canonical Wnt signalling at the primary cilium. Nat Cell Biol (2011) 2.40

Primary cilia are required for cerebellar development and Shh-dependent expansion of progenitor pool. Dev Biol (2008) 2.38

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

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Functional modules, mutational load and human genetic disease. Trends Genet (2010) 1.45

Ahi1, whose human ortholog is mutated in Joubert syndrome, is required for Rab8a localization, ciliogenesis and vesicle trafficking. Hum Mol Genet (2009) 1.33

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Huntingtin-associated protein 1 interacts with Ahi1 to regulate cerebellar and brainstem development in mice. J Clin Invest (2008) 1.19

Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects. Hum Mol Genet (2013) 1.13

Cystic kidney disease: the role of Wnt signaling. Trends Mol Med (2010) 1.10

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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

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Rare association of Hirschsprung's disease and Joubert syndrome. Eur J Pediatr (2007) 0.80

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Primary cilia in rat mature Müller glia: downregulation of IFT20 expression reduces sonic hedgehog-mediated proliferation and dedifferentiation potential of Müller glia primary cultures. Cell Mol Neurobiol (2014) 0.77

The ciliary proteins Meckelin and Jouberin are required for retinoic acid-dependent neural differentiation of mouse embryonic stem cells. Differentiation (2014) 0.75

Joubert syndrome in three children in a family: a case series. Iran J Child Neurol (2013) 0.75

Zfp423 Regulates Sonic Hedgehog Signaling via Primary Cilium Function. PLoS Genet (2016) 0.75

Joubert syndrome; misleading presentation of two cases as pseudo-tumor cerebri and literature review. J Renal Inj Prev (2016) 0.75

Craniovertebral junction abnormality in a case of Joubert syndrome. Childs Nerv Syst (2012) 0.75

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nat Genet (2006) 3.97

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

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. Nat Genet (2012) 3.41

Ndel1 operates in a common pathway with LIS1 and cytoplasmic dynein to regulate cortical neuronal positioning. Neuron (2004) 3.33

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet (2011) 3.06

Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration. J Cell Biol (2004) 3.01

Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria. Am J Hum Genet (2004) 2.76

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. Nat Genet (2009) 2.72

Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. Am J Hum Genet (2008) 2.65

CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium. Hum Mol Genet (2008) 2.61

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell (2012) 2.54

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. Cell (2010) 2.49

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

Subcellular spatial regulation of canonical Wnt signalling at the primary cilium. Nat Cell Biol (2011) 2.40

Nucleokinesis in neuronal migration. Neuron (2005) 2.40

The centrosome in neuronal development. Trends Neurosci (2007) 2.29

Doublecortin-like kinase functions with doublecortin to mediate fiber tract decussation and neuronal migration. Neuron (2006) 2.27

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. Nat Genet (2010) 1.89

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. Ann Neurol (2006) 1.89

Coupling of cell migration with neurogenesis by proneural bHLH factors. Proc Natl Acad Sci U S A (2006) 1.87

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

Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3. Am J Hum Genet (2003) 1.84

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. Am J Hum Genet (2007) 1.82

Multiple dose-dependent effects of Lis1 on cerebral cortical development. J Neurosci (2003) 1.81

Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. Science (2012) 1.74

The primary cilium as a cellular signaling center: lessons from disease. Curr Opin Genet Dev (2009) 1.73

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. Am J Hum Genet (2012) 1.71

Cdk5 phosphorylation of doublecortin ser297 regulates its effect on neuronal migration. Neuron (2004) 1.70

The role of primary cilia in neuronal function. Neurobiol Dis (2010) 1.69

Doublecortin maintains bipolar shape and nuclear translocation during migration in the adult forebrain. Nat Neurosci (2006) 1.68

Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. Science (2012) 1.65

Modeling human disease in humans: the ciliopathies. Cell (2011) 1.60

Spinophilin facilitates dephosphorylation of doublecortin by PP1 to mediate microtubule bundling at the axonal wrist. Cell (2007) 1.56

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. Nat Genet (2012) 1.54

Distinguishing the four genetic causes of Jouberts syndrome-related disorders. Ann Neurol (2005) 1.54

Cerebellar development and disease. Curr Opin Neurobiol (2008) 1.53

NSun2-mediated cytosine-5 methylation of vault noncoding RNA determines its processing into regulatory small RNAs. Cell Rep (2013) 1.48

Cortical neuronal migration mutants suggest separate but intersecting pathways. Annu Rev Cell Dev Biol (2004) 1.45

The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders. Dev Med Child Neurol (2011) 1.44

Cilia in the nervous system: linking cilia function and neurodevelopmental disorders. Curr Opin Neurol (2011) 1.43

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. Hum Mutat (2009) 1.43

Transgenic mouse line with green-fluorescent protein-labeled Centrin 2 allows visualization of the centrosome in living cells. Transgenic Res (2004) 1.39

Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. Am J Hum Genet (2012) 1.38

Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females. Brain (2002) 1.37

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. Brain (2010) 1.34

Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome. J Med Genet (2012) 1.32

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. Hum Mutat (2010) 1.32

Genetic mechanisms underlying abnormal neuronal migration in classical lissencephaly. Trends Genet (2007) 1.29

AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder. Cell (2013) 1.25

A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium. Hum Mutat (2014) 1.21

Faulty initiation of proteoglycan synthesis causes cardiac and joint defects. Am J Hum Genet (2011) 1.20

CCDC41 is required for ciliary vesicle docking to the mother centriole. Proc Natl Acad Sci U S A (2013) 1.13

Association of common variants in the Joubert syndrome gene (AHI1) with autism. Hum Mol Genet (2008) 1.12

Cystic kidney disease: the role of Wnt signaling. Trends Mol Med (2010) 1.10

GSK3beta and PKCzeta function in centrosome localization and process stabilization during Slit-mediated neuronal repolarization. Mol Cell Neurosci (2006) 1.10

Mice lacking doublecortin and doublecortin-like kinase 2 display altered hippocampal neuronal maturation and spontaneous seizures. Proc Natl Acad Sci U S A (2009) 1.07

A systems-biology approach to understanding the ciliopathy disorders. Genome Med (2011) 1.04

Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation. Am J Med Genet A (2007) 1.03

Selective expression of doublecortin and LIS1 in developing human cortex suggests unique modes of neuronal movement. Cereb Cortex (2002) 0.98

Virmid: accurate detection of somatic mutations with sample impurity inference. Genome Biol (2013) 0.97

Is mental retardation a defect of synapse structure and function? Pediatr Neurol (2003) 0.96

Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities. Am J Hum Genet (2013) 0.95

The doublecortin and doublecortin-like kinase 1 genes cooperate in murine hippocampal development. Cereb Cortex (2006) 0.94

Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay. Metab Brain Dis (2014) 0.93

Childhood primary angiitis of the central nervous system: two biopsy-proven cases. J Pediatr (2004) 0.93

Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism. Hum Genet (2014) 0.92

The molecular and genetic mechanisms of neocortex development. Clin Perinatol (2009) 0.91

A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion. BMC Med Genet (2012) 0.90

Doublecortin-like kinase enhances dendritic remodelling and negatively regulates synapse maturation. Nat Commun (2013) 0.90

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

Joubert syndrome: report of 11 cases. Turk J Pediatr (2013) 0.87

The genetic landscape of autism spectrum disorders. Dev Med Child Neurol (2013) 0.87

Genetic regulation of human brain development: lessons from Mendelian diseases. Ann N Y Acad Sci (2010) 0.86

Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption. Am J Med Genet A (2013) 0.85

Hemimegalencephaly, a paradigm for somatic postzygotic neurodevelopmental disorders. Curr Opin Neurol (2013) 0.85

Expanding CEP290 mutational spectrum in ciliopathies. Am J Med Genet A (2009) 0.85

A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS). Am J Med Genet A (2012) 0.84

A missed exit: Reelin sets in motion Dab1 polyubiquitination to put the break on neuronal migration. Genes Dev (2007) 0.84

Pathogenetic mechanisms of focal cortical dysplasia. Epilepsia (2014) 0.83

Co-occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers. Am J Med Genet A (2011) 0.83

Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia. Am J Hum Genet (2013) 0.81

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. Eur J Hum Genet (2013) 0.81

Simultaneous multiple-excitation multiphoton microscopy yields increased imaging sensitivity and specificity. BMC Biotechnol (2011) 0.81

The very low density lipoprotein receptor-associated pontocerebellar hypoplasia and dysmorphic features in three Turkish patients. J Child Neurol (2012) 0.81

Cytoskeletal-associated proteins in the migration of cortical neurons. J Neurobiol (2004) 0.81

Can't get there from here: cilia and hydrocephalus. Nat Med (2012) 0.80

Mild paroxysmal kinesigenic dyskinesia caused by PRRT2 missense mutation with reduced penetrance. Neurology (2012) 0.80

Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation. Brain (2012) 0.78

Autism in several members of a family with generalized epilepsy with febrile seizures plus. J Child Neurol (2004) 0.78

New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect. Am J Med Genet A (2011) 0.77

Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum. Eur J Med Genet (2010) 0.77

TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family. Turk J Pediatr (2015) 0.77

Erratum: Mutation spectrum of Joubert syndrome and related disorders among Arabs. Hum Genome Var (2015) 0.77

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome: a case report. J Child Neurol (2012) 0.76

Moving neurons back into place. Nat Med (2009) 0.76

Sun proteins enlighten nuclear movement in development. Neuron (2009) 0.76

Stems cells and regeneration: special review issue. Hum Mol Genet (2008) 0.76

Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network. Science (2017) 0.76