Published in Am J Hum Genet on June 03, 2002
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Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly. Am J Hum Genet (2009) 2.89
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BRIT1 regulates early DNA damage response, chromosomal integrity, and cancer. Cancer Cell (2006) 2.61
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BRIT1/MCPH1 links chromatin remodelling to DNA damage response. Nat Cell Biol (2009) 2.06
Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4. Am J Hum Genet (2010) 2.05
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Protein-truncating mutations in ASPM cause variable reduction in brain size. Am J Hum Genet (2003) 1.89
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De novo mutations in moderate or severe intellectual disability. PLoS Genet (2014) 1.64
Mutations in microcephalin cause aberrant regulation of chromosome condensation. Am J Hum Genet (2004) 1.62
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Human ASPM participates in spindle organisation, spindle orientation and cytokinesis. BMC Cell Biol (2010) 1.29
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Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly. BMC Med Genet (2007) 1.01
MCPH1 regulates chromosome condensation and shaping as a composite modulator of condensin II. J Cell Biol (2011) 1.00
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Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly. BMC Neurol (2011) 0.96
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The derived allele of ASPM is associated with lexical tone perception. PLoS One (2012) 0.89
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Primary microcephaly gene MCPH1 shows signatures of tumor suppressors and is regulated by miR-27a in oral squamous cell carcinoma. PLoS One (2013) 0.88
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RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans. Am J Hum Genet (2015) 0.79
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Chromosome structure deficiencies in MCPH1 syndrome. Chromosoma (2015) 0.78
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A pocket on the surface of the N-terminal BRCT domain of Mcph1 is required to prevent abnormal chromosome condensation. J Mol Biol (2009) 0.78
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In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cells. Mol Psychiatry (2014) 0.78
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Refining the phenotype associated with CASC5 mutation. Neurogenetics (2015) 0.76
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