Associated Papers
Unbalanced chromatin binding of Polycomb complexes drives neurodevelopmental disorders.
Borges RL et al.
Molecular Cell, 2026
RNF2 Missense Variants Disrupt Polycomb Repression and Enable Ectopic Mesenchymal Lineage Conversion During Human Neural Differentiation.
Ryan CW et al.
Research Square, 2025
Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.
Mok JW et al.
Genome Research, 2025
40467338 (PubMed )
Supplement: Supplemental_Table_S1.xlsx › Supplemental_Table1
RING1 missense variants reveal sensitivity of DNA damage repair to H2A monoubiquitination dosage during neurogenesis.
Ryan CW et al.
Nature Communications, 2024
39256363 (PubMed )
Supplement: 41467_2024_52292_MOESM2_ESM.pdf
H2A monoubiquitination: insights from human genetics and animal models.
Ryan CW et al.
Human Genetics, 2024
Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features.
Luo X et al.
Human Molecular Genetics, 2021
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