Associated Papers
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39399040 (PubMed )
Supplement: media-1.xlsx › TableS2
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
Further Delineation of Ribose-5-phosphate Isomerase Deficiency: Report of a Third Case.
Brooks SS et al.
Journal of Child Neurology, 2018
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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