Published in Hum Mol Genet on June 10, 2013
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Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome. PLoS Genet (2009) 2.14
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Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome. Chromosome Res (2009) 1.01
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Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center. Mol Genet Genomic Med (2013) 0.96
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SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome. Hum Mutat (2009) 0.93
Recruitment of the cohesin loading factor NIPBL to DNA double-strand breaks depends on MDC1, RNF168 and HP1γ in human cells. Biochem Biophys Res Commun (2011) 0.89
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Nuclear re-organisation of the Hoxb complex during mouse embryonic development. Development (2005) 1.89
Disruption of imprinted gene methylation and expression in cloned preimplantation stage mouse embryos. Biol Reprod (2003) 1.88
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Disruption of Ledgf/Psip1 results in perinatal mortality and homeotic skeletal transformations. Mol Cell Biol (2006) 1.51
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Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. Hum Mol Genet (2014) 1.25
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Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet (2017) 0.75