Associated Papers
De novo variants disrupt an LDB1-regulated transcriptional network in congenital ventriculomegaly.
Allington G et al.
Brain : a Journal of Neurology, 2025
39680505 (PubMed )
Supplement: awae395_supplementary_data.zip › brain-2024-01467-File007.xlsx › ST2
A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus.
Singh AK et al.
Brain : a Journal of Neurology, 2024
A novel SMARCC1 -mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalus.
Singh AK et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
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