Associated Papers
Leveraging genomic diagnostics for prognostics and therapeutics in pediatric acute leukemia.
Newman H et al.
Hemasphere, 2025
41306327 (PubMed )
Supplement: HEM3-9-e70269-s013.xlsx › Supplemental_Table_5_-_SSVs
Single-cell sequencing reveals shared clonal signatures in nonmalignant B and tumor cells in T-prolymphocytic leukemia.
Hesselager C et al.
Blood Neoplasia, 2025
Unidirectional association of clonal hematopoiesis with atherosclerosis development.
Díez-Díez M et al.
Nature Medicine, 2024
39215150 (PubMed )
Supplement: 41591_2024_3213_MOESM3_ESM.xlsx › Supplementary_Table_2
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
Ezh2 Mutations Found in the Weaver Overgrowth Syndrome Cause a Partial Loss of H3K27 Histone Methyltransferase Activity.
Lui JC et al.
The Journal of Clinical Endocrinology and Metabolism, 2018
High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer.
Diets IJ et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 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
Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro.
Cohen AS et al.
Human Mutation, 2016
Polycomb repressive complex's evolutionary conserved function: the role of EZH2 status and cellular background.
Gall Trošelj K et al.
Clinical Epigenetics, 2016
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.
Tatton-Brown K et al.
American Journal of Medical Genetics. Part A, 2013
Structural context of disease-associated mutations and putative mechanism of autoinhibition revealed by X-ray crystallographic analysis of the EZH2-SET domain.
Antonysamy S et al.
Plos One, 2013
Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.
Tatton-Brown K et al.
Oncotarget, 2011
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