Associated Papers
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Zhang P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
37931111 (PubMed )
Supplement: pnas.2314225120.sd01.xlsx › Dataset_S1._patho_AG-gain_var
A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8.
Sakamoto M et al.
Journal of Human Genetics, 2023
Novel bi-allelic variants of CHMP1A contribute to pontocerebellar hypoplasia type 8: additional clinical and genetic evidence.
He T et al.
Frontiers in Neurology, 2023
37789895 (PubMed )
Supplement: Table_1.xlsx › Variants_and_phenotype
International consensus recommendations on the diagnostic work-up for malformations of cortical development.
Oegema R et al.
Nature Reviews. Neurology, 2020
32895508 (PubMed )
Supplement: 41582_2020_395_MOESM1_ESM.pdf
The ESCRT-III Protein CHMP1A Mediates Secretion of Sonic Hedgehog on a Distinctive Subtype of Extracellular Vesicles.
Coulter ME et al.
Cell Reports, 2018
30044992 (PubMed )
Supplement: NIHMS1503267-supplement-1.pdf
CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development.
Mochida GH et al.
Nature Genetics, 2012
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