Associated Papers
Genome Instability and Senescence Are Markers of Cornelia de Lange Syndrome Cells.
Di Nardo M et al.
Cells, 2024
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Kaur M et al.
American Journal of Medical Genetics. Part A, 2023
Can the Synergic Contribution of Multigenic Variants Explain the Clinical and Cellular Phenotypes of a Neurodevelopmental Disorder?
Maia N et al.
Genes, 2021
35052418 (PubMed )
Supplement: genes-13-00078-s001.zip › genes-1494316-Table_S1.xls › Table_S1
Structural aspects of HDAC8 mechanism and dysfunction in Cornelia de Lange syndrome spectrum disorders.
Deardorff MA et al.
Protein Science : a Publication of the Protein Society, 2016
NIPBL Controls RNA Biogenesis to Prevent Activation of the Stress Kinase PKR.
Yuen KC et al.
Cell Reports, 2016
Biochemical and structural characterization of HDAC8 mutants associated with Cornelia de Lange syndrome spectrum disorders.
Decroos C et al.
Biochemistry, 2015
Compromised structure and function of HDAC8 mutants identified in Cornelia de Lange Syndrome spectrum disorders.
Decroos C et al.
Acs Chemical Biology, 2014
Exome sequencing identifies a de novo mutation in HDAC8 associated with Cornelia de Lange syndrome.
Feng L et al.
Journal of Human Genetics, 2014
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
Kaiser FJ et al.
Human Molecular Genetics, 2014
Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.
Mannini L et al.
Human Mutation, 2013
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.
Deardorff MA et al.
Nature, 2012
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