Associated Papers
A Novel Inherited Mutation of SCN8A in a Korean Family with Benign Familial Infantile Epilepsy Using Diagnostic Exome Sequencing.
Han JY et al.
Annals of Clinical and Laboratory Science, 2017
Diagnostic exome sequencing identifies a heterozygous MBD5 frameshift mutation in a family with intellectual disability and epilepsy.
Han JY et al.
European Journal of Medical Genetics, 2017
Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities.
Hodge JC et al.
Molecular Psychiatry, 2014
Extended spectrum of MBD5 mutations in neurodevelopmental disorders.
Bonnet C et al.
European Journal of Human Genetics : Ejhg, 2013
Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.
Kleefstra T et al.
American Journal of Human Genetics, 2012
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