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
First reports of fetal SMARCC1 related hydrocephalus.
Rive Le Gouard N et al.
European Journal of Medical Genetics, 2023
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
Loss of the E3 ubiquitin ligases UBR-5 or HECD-1 restores Caenorhabditis elegans development in the absence of SWI/SNF function.
Lampersberger L et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus.
Jin SC et al.
Nature Medicine, 2020
De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus.
Furey CG et al.
Neuron, 2018
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