Associated Papers
Dynamics of clonal hematopoiesis and cellular responses to stress-induced toxicity in autologous stem cell transplantation.
Stein CM et al.
Leukemia, 2026
Clinical and genetic characterization of Weaver syndrome: A case report of an EZH2 mutation and review of the literature.
Ren L et al.
Medicine, 2025
Functional analysis of human EED variants using Drosophila.
Cyrus SS et al.
Genetics, 2025
Myeloid sarcoma shows a high frequency of mutations activating the MAPK/ERK pathway and association with clonal hematopoiesis.
Nann D et al.
The Journal of Pathology. Clinical Research, 2025
Minimally Humanized Ezh2 Exon-18 Mouse Cell Lines Validate Preclinical CRISPR/Cas9 Approach to Treat Weaver Syndrome.
Gibson WT et al.
Human Gene Therapy, 2025
Utilizing Patient-Derived Xenografts to Model Precision Oncology for Biliary Tract Cancer.
DiPeri TP et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Molecular and clinical analyses of PHF6 mutant myeloid neoplasia provide their pathogenesis and therapeutic targeting.
Kubota Y et al.
Nature Communications, 2024
A mouse model of Weaver syndrome displays overgrowth and excess osteogenesis reversible with KDM6A/6B inhibition.
Gao CW et al.
Jci Insight, 2024
Next-Generation Sequencing-Based Genomic Profiling of Children with Acute Myeloid Leukemia.
Krizsán S et al.
The Journal of Molecular Diagnostics : Jmd, 2023
Novel mouse model of Weaver syndrome displays overgrowth and excess osteogenesis reversible with KDM6A/6B inhibition.
Gao CW et al.
Biorxiv : the Preprint Server for Biology, 2023
CNL and aCML should be considered as a single entity based on molecular profiles and outcomes.
Carreño-Tarragona G et al.
Blood Advances, 2023
Polycomb Alterations in Acute Myeloid Leukaemia: From Structure to Function.
Bhattacharyya T et al.
Cancers, 2023
Sensitive Detection of Cell-Free Tumour DNA Using Optimised Targeted Sequencing Can Predict Prognosis in Gastro-Oesophageal Cancer.
Wallander K et al.
Cancers, 2023
RUNX1 mutations contribute to the progression of MDS due to disruption of antitumor cellular defense: a study on patients with lower-risk MDS.
Kaisrlikova M et al.
Leukemia, 2022
SmMIP-tools: a computational toolset for processing and analysis of single-molecule molecular inversion probes-derived data.
Medeiros JJF et al.
Bioinformatics (oxford, England), 2022
Replacing the SpCas9 HNH domain by deaminases generates compact base editors with an alternative targeting scope.
Villiger L et al.
Molecular Therapy. Nucleic Acids, 2021
Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes.
Sahoo SS et al.
Nature Medicine, 2021
Pathologic Spectrum and Molecular Landscape of Myeloid Disorders Harboring SF3B1 Mutations.
Venable ER et al.
American Journal of Clinical Pathology, 2021
The Mutational Landscape of Acute Myeloid Leukaemia Predicts Responses and Outcomes in Elderly Patients from the PETHEMA-FLUGAZA Phase 3 Clinical Trial.
Ayala R et al.
Cancers, 2021
Spectrum of histiocytic neoplasms associated with diverse haematological malignancies bearing the same oncogenic mutation.
Kemps PG et al.
The Journal of Pathology. Clinical Research, 2021
Reciprocal skeletal phenotypes of PRC2-related overgrowth and Rubinstein-Taybi syndromes: potential role of H3K27 modifications.
Gamu D et al.
Cold Spring Harbor Molecular Case Studies, 2020
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.
Choufani S et al.
American Journal of Human Genetics, 2020
EZH2 mutations and impact on clinical outcome: an analysis in 1,604 patients with newly diagnosed acute myeloid leukemia.
Stasik S et al.
Haematologica, 2020
PRC2-complex related dysfunction in overgrowth syndromes: A review of EZH2, EED, and SUZ12 and their syndromic phenotypes.
Cyrus S et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2019
Isolated Bone Marrow Non-Langerhans Cell Histiocytosis Preceding RUNX1-Mutated Acute Myeloid Leukemia: Case Report and Literature Review.
Al Mugairi A et al.
American Journal of Clinical Pathology, 2019
Targeted next generation sequencing can serve as an alternative to conventional tests in myeloid neoplasms.
Kim B et al.
Plos One, 2019
appreci8: a pipeline for precise variant calling integrating 8 tools.
Sandmann S et al.
Bioinformatics (oxford, England), 2018
Distinct age-associated molecular profiles in acute myeloid leukemia defined by comprehensive clinical genomic profiling.
Tarlock K et al.
Oncotarget, 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
Discovery of coding regions in the human genome by integrated proteogenomics analysis workflow.
Zhu Y et al.
Nature Communications, 2018
Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7.
Pastor VB et al.
Haematologica, 2018
TET2, ASXL1 and EZH2 mutations in Chinese with myelodysplastic syndromes.
Wang J et al.
Leukemia Research, 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