Published in Nat Med on December 01, 2012
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Doublecortin maintains bipolar shape and nuclear translocation during migration in the adult forebrain. Nat Neurosci (2006) 1.68
Morphine reward in dopamine-deficient mice. Nature (2005) 1.66
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CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. Nat Genet (2012) 1.54
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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
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A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. Brain (2010) 1.34
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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
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A systems-biology approach to understanding the ciliopathy disorders. Genome Med (2011) 1.04
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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
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Genetic disruption of dopamine production results in pituitary adenomas and severe prolactinemia. Neuroendocrinology (2007) 0.81
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. Eur J Hum Genet (2013) 0.81
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