Associated Papers
Dominant-negative effects of Weaver syndrome-associated EZH2 variants.
Deevy O et al.
Genes & Development, 2025
Indeterminate DC histiocytosis is distinct from LCH and often associated with other hematopoietic neoplasms.
Ozkaya N et al.
Blood Advances, 2024
39361706 (PubMed )
Supplement: BLOODA_ADV-2024-013545-mmc1.xlsx › Sheet1
Polycomb Alterations in Acute Myeloid Leukaemia: From Structure to Function.
Bhattacharyya T et al.
Cancers, 2023
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S13.xls › human_pat_mouse_phe_orthovar_14
Integrative study of EZH2 mutational status, copy number, protein expression and H3K27 trimethylation in AML/MDS patients.
Stomper J et al.
Clinical Epigenetics, 2021
Archival bone marrow smears are useful in targeted next-generation sequencing for diagnosing myeloid neoplasms.
Sadato D et al.
Plos One, 2021
Impact of mutational variant allele frequency on prognosis in myelodysplastic syndromes.
Jiang L et al.
American Journal of Cancer Research, 2020
Co-occurrence of a maternally inherited DNMT3A duplication and a paternally inherited pathogenic variant in EZH2 in a child with growth retardation and severe short stature: atypical Weaver syndrome or evidence of a DNMT3A dosage effect?
Polonis K et al.
Cold Spring Harbor Molecular Case Studies, 2018
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
Tatton-Brown K et al.
American Journal of Human Genetics, 2017
28475857 (PubMed )
Supplement: mmc2.xlsx › Supplementary_Table_1
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