Associated Papers
Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene.
Karimi K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
An updated catalog of CTCF variants associated with neurodevelopmental disorder phenotypes.
Price E et al.
Frontiers in Molecular Neuroscience, 2023
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder.
Squeo GM et al.
Journal of Medical Genetics, 2020
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