PubRank

Joseph G Gleeson

Author PubWeight™ 153.12‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nat Genet 2006 3.97
2 Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet 2010 3.66
3 Functional genomic screen for modulators of ciliogenesis and cilium length. Nature 2010 3.63
4 De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. Nat Genet 2012 3.41
5 Ndel1 operates in a common pathway with LIS1 and cytoplasmic dynein to regulate cortical neuronal positioning. Neuron 2004 3.33
6 TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet 2011 3.06
7 Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration. J Cell Biol 2004 3.01
8 Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria. Am J Hum Genet 2004 2.76
9 Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. Nat Genet 2009 2.72
10 Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. Am J Hum Genet 2008 2.65
11 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
12 Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell 2012 2.54
13 SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. Cell 2010 2.49
14 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
15 Subcellular spatial regulation of canonical Wnt signalling at the primary cilium. Nat Cell Biol 2011 2.40
16 Nucleokinesis in neuronal migration. Neuron 2005 2.40
17 The centrosome in neuronal development. Trends Neurosci 2007 2.29
18 Doublecortin-like kinase functions with doublecortin to mediate fiber tract decussation and neuronal migration. Neuron 2006 2.27
19 AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. Nat Genet 2010 1.89
20 AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. Ann Neurol 2006 1.89
21 Coupling of cell migration with neurogenesis by proneural bHLH factors. Proc Natl Acad Sci U S A 2006 1.87
22 Impaired Wnt-beta-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy. Nat Med 2009 1.86
23 Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome. Nat Med 2011 1.84
24 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
25 CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. Am J Hum Genet 2007 1.82
26 Multiple dose-dependent effects of Lis1 on cerebral cortical development. J Neurosci 2003 1.81
27 Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. Science 2012 1.74
28 The primary cilium as a cellular signaling center: lessons from disease. Curr Opin Genet Dev 2009 1.73
29 Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. Am J Hum Genet 2012 1.71
30 Cdk5 phosphorylation of doublecortin ser297 regulates its effect on neuronal migration. Neuron 2004 1.70
31 The role of primary cilia in neuronal function. Neurobiol Dis 2010 1.69
32 Doublecortin maintains bipolar shape and nuclear translocation during migration in the adult forebrain. Nat Neurosci 2006 1.68
33 Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. Science 2012 1.65
34 Modeling human disease in humans: the ciliopathies. Cell 2011 1.60
35 Spinophilin facilitates dephosphorylation of doublecortin by PP1 to mediate microtubule bundling at the axonal wrist. Cell 2007 1.56
36 CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. Nat Genet 2012 1.54
37 Distinguishing the four genetic causes of Jouberts syndrome-related disorders. Ann Neurol 2005 1.54
38 Cerebellar development and disease. Curr Opin Neurobiol 2008 1.53
39 NSun2-mediated cytosine-5 methylation of vault noncoding RNA determines its processing into regulatory small RNAs. Cell Rep 2013 1.48
40 Cortical neuronal migration mutants suggest separate but intersecting pathways. Annu Rev Cell Dev Biol 2004 1.45
41 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
42 Cilia in the nervous system: linking cilia function and neurodevelopmental disorders. Curr Opin Neurol 2011 1.43
43 MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. Hum Mutat 2009 1.43
44 Genetic basis of Joubert syndrome and related disorders of cerebellar development. Hum Mol Genet 2005 1.43
45 Transgenic mouse line with green-fluorescent protein-labeled Centrin 2 allows visualization of the centrosome in living cells. Transgenic Res 2004 1.39
46 Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. Am J Hum Genet 2012 1.38
47 Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females. Brain 2002 1.37
48 A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. Brain 2010 1.34
49 Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome. J Med Genet 2012 1.32
50 Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. Hum Mutat 2010 1.32
51 Genetic mechanisms underlying abnormal neuronal migration in classical lissencephaly. Trends Genet 2007 1.29
52 AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder. Cell 2013 1.25
53 A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium. Hum Mutat 2014 1.21
54 Faulty initiation of proteoglycan synthesis causes cardiac and joint defects. Am J Hum Genet 2011 1.20
55 CCDC41 is required for ciliary vesicle docking to the mother centriole. Proc Natl Acad Sci U S A 2013 1.13
56 Association of common variants in the Joubert syndrome gene (AHI1) with autism. Hum Mol Genet 2008 1.12
57 Cystic kidney disease: the role of Wnt signaling. Trends Mol Med 2010 1.10
58 GSK3beta and PKCzeta function in centrosome localization and process stabilization during Slit-mediated neuronal repolarization. Mol Cell Neurosci 2006 1.10
59 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
60 A systems-biology approach to understanding the ciliopathy disorders. Genome Med 2011 1.04
61 Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation. Am J Med Genet A 2007 1.03
62 Selective expression of doublecortin and LIS1 in developing human cortex suggests unique modes of neuronal movement. Cereb Cortex 2002 0.98
63 Virmid: accurate detection of somatic mutations with sample impurity inference. Genome Biol 2013 0.97
64 Is mental retardation a defect of synapse structure and function? Pediatr Neurol 2003 0.96
65 Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities. Am J Hum Genet 2013 0.95
66 The doublecortin and doublecortin-like kinase 1 genes cooperate in murine hippocampal development. Cereb Cortex 2006 0.94
67 Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay. Metab Brain Dis 2014 0.93
68 Childhood primary angiitis of the central nervous system: two biopsy-proven cases. J Pediatr 2004 0.93
69 Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism. Hum Genet 2014 0.92
70 The molecular and genetic mechanisms of neocortex development. Clin Perinatol 2009 0.91
71 A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion. BMC Med Genet 2012 0.90
72 Doublecortin-like kinase enhances dendritic remodelling and negatively regulates synapse maturation. Nat Commun 2013 0.90
73 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
74 Joubert syndrome: report of 11 cases. Turk J Pediatr 2013 0.87
75 The genetic landscape of autism spectrum disorders. Dev Med Child Neurol 2013 0.87
76 Genetic regulation of human brain development: lessons from Mendelian diseases. Ann N Y Acad Sci 2010 0.86
77 Expanding CEP290 mutational spectrum in ciliopathies. Am J Med Genet A 2009 0.85
78 Hemimegalencephaly, a paradigm for somatic postzygotic neurodevelopmental disorders. Curr Opin Neurol 2013 0.85
79 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
80 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
81 A missed exit: Reelin sets in motion Dab1 polyubiquitination to put the break on neuronal migration. Genes Dev 2007 0.84
82 Co-occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers. Am J Med Genet A 2011 0.83
83 Pathogenetic mechanisms of focal cortical dysplasia. Epilepsia 2014 0.83
84 Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia. Am J Hum Genet 2013 0.81
85 Simultaneous multiple-excitation multiphoton microscopy yields increased imaging sensitivity and specificity. BMC Biotechnol 2011 0.81
86 Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. Eur J Hum Genet 2013 0.81
87 The very low density lipoprotein receptor-associated pontocerebellar hypoplasia and dysmorphic features in three Turkish patients. J Child Neurol 2012 0.81
88 Cytoskeletal-associated proteins in the migration of cortical neurons. J Neurobiol 2004 0.81
89 Can't get there from here: cilia and hydrocephalus. Nat Med 2012 0.80
90 Mild paroxysmal kinesigenic dyskinesia caused by PRRT2 missense mutation with reduced penetrance. Neurology 2012 0.80
91 Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation. Brain 2012 0.78
92 Autism in several members of a family with generalized epilepsy with febrile seizures plus. J Child Neurol 2004 0.78
93 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
94 Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum. Eur J Med Genet 2010 0.77
95 New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect. Am J Med Genet A 2011 0.77
96 Erratum: Mutation spectrum of Joubert syndrome and related disorders among Arabs. Hum Genome Var 2015 0.77
97 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome: a case report. J Child Neurol 2012 0.76
98 Moving neurons back into place. Nat Med 2009 0.76
99 Sun proteins enlighten nuclear movement in development. Neuron 2009 0.76
100 Stems cells and regeneration: special review issue. Hum Mol Genet 2008 0.76
101 Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network. Science 2017 0.76
102 Aurora A moonlights in neurite extension. Nat Cell Biol 2009 0.75
103 Another double trouble. Silent carriers of doublecortin mutations. Neurology 2003 0.75
104 Classifying a novel brain malformation. Brain 2007 0.75
105 The sacred disease: the puzzling genetics of epileptic disorders. Neuron 2013 0.75
106 Familial congenital unilateral cerebral ventriculomegaly: Delineation of a distinct genetic disorder. Am J Med Genet A 2009 0.75
107 Function follows form: understanding brain function from a genetic perspective. Curr Opin Genet Dev 2011 0.75
108 Subcortical laminar (band) heterotopia. Handb Clin Neurol 2008 0.75
109 Neurodevelopment and disease. Curr Opin Neurobiol 2012 0.75
110 Novel STAMBP mutation and additional findings in an Arabic family. Am J Med Genet A 2015 0.75
111 Neuroepithelial cysts in a patient with Joubert syndrome plus renal cysts. J Child Neurol 2004 0.75