Associated Papers
Phase separation as a possible mechanism for dosage sensitivity.
Yang L et al.
Genome Biology, 2024
38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD-escaping_mutations
A Novel Genetic Variant in MBD5 Associated with Severe Epilepsy and Intellectual Disability: Potential Implications on Neural Primary Cilia.
Martins M et al.
International Journal of Molecular Sciences, 2023
37628781 (PubMed )
Supplement: ijms-24-12603-s001.zip › ijms-2533004-supplementary.pdf
Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.
Liu Z et al.
Frontiers in Genetics, 2018
30279698 (PubMed )
Supplement: Table_2.XLS › Sheet1
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
Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND).
Mullegama SV et al.
European Journal of Human Genetics : Ejhg, 2016
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
Select a paper to view details