Associated Papers
Dominant-negative effects of Weaver syndrome-associated EZH2 variants.
Deevy O et al.
Genes & Development, 2025
40846643 (PubMed )
Supplement: Supplemental_Data.docx
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.
Choufani S et al.
American Journal of Human Genetics, 2020
32243864 (PubMed )
Supplement: mmc2.xlsx › Table_S1-Discovery_WS
Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro.
Cohen AS et al.
Human Mutation, 2016
Mutations in EZH2 cause Weaver syndrome.
Gibson WT et al.
American Journal of Human Genetics, 2012
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