Associated Papers
Dominant-negative effects of Weaver syndrome-associated EZH2 variants.
Deevy O et al.
Genes & Development, 2025
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1
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
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