Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Proteomic subtypes enrich current acute myeloid leukemia nomenclature and reflect intrinsic pathogenesis alongside aging.
Cheng WY et al.
Blood, 2025
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
Persistent postremission clonal hematopoiesis shapes the relapse trajectories of acute myeloid leukemia.
Chow RD et al.
Blood Advances, 2025
PPM1D Mutation as a Distinct Feature of Myeloid Neoplasms in B-Cell Non-Hodgkin Lymphoma Patients: A Retrospective Analysis.
Kim H et al.
Cancers, 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
The Epigenetic Machinery and Energy Expenditure: A Network to Be Revealed.
Prada E et al.
Genes, 2025
Genetic subtyping by Whole Exome Sequencing across Diffuse Large B Cell Lymphoma and Plasmablastic Lymphoma.
Pomares AA et al.
Plos One, 2025
Early drivers of clonal hematopoiesis shape the evolutionary trajectories of de novo acute myeloid leukemia.
Chow RD et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Venetoclax use in a patient with ataxia telangiectasia and early T-cell precursor acute lymphoblastic leukemia.
Alqahtani S et al.
Pediatric Blood & Cancer, 2024
Tricarboxylic Acid Cycle Regulation of Metabolic Program, Redox System, and Epigenetic Remodeling for Bone Health and Disease.
Lian WS et al.
Antioxidants (basel, Switzerland), 2024
Expanding the Phenotypic and Genotypic Spectrum of Weaver Syndrome: A Missense Variant of the EZH2 Gene.
Kendir-Demirkol Y et al.
Molecular Syndromology, 2024
A mouse model of Weaver syndrome displays overgrowth and excess osteogenesis reversible with KDM6A/6B inhibition.
Gao CW et al.
Jci Insight, 2024
COMPASS: joint copy number and mutation phylogeny reconstruction from amplicon single-cell sequencing data.
Sollier E et al.
Nature Communications, 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
Polycomb Alterations in Acute Myeloid Leukaemia: From Structure to Function.
Bhattacharyya T et al.
Cancers, 2023
Compartment-specific mutational landscape of clonal hematopoiesis.
Hartmann L et al.
Leukemia, 2022
Application of exome sequencing for prenatal diagnosis of fetal structural anomalies: clinical experience and lessons learned from a cohort of 1618 fetuses.
Fu F et al.
Genome Medicine, 2022
Molecular landscape of TP53 mutations in breast cancer and their utility for predicting the response to HER-targeted therapy in HER2 amplification-positive and HER2 mutation-positive amplification-negative patients.
Liu B et al.
Cancer Medicine, 2022
Acquired somatic variants in inherited myeloid malignancies.
Armes H 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
Unique ethnic features of DDX41 mutations in patients with idiopathic cytopenia of undetermined significance, myelodysplastic syndrome, or acute myeloid leukemia.
Choi EJ et al.
Haematologica, 2022
Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.
Tran Mau-Them F et al.
Molecular Genetics & Genomic Medicine, 2021
Integrative Genomic Analysis of Pediatric Myeloid-Related Acute Leukemias Identifies Novel Subtypes and Prognostic Indicators.
Fornerod M et al.
Blood Cancer Discovery, 2021
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
Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery.
Aleo S et al.
Frontiers in Cell and Developmental Biology, 2020
Molecular landscape and efficacy of HER2-targeted therapy in patients with HER2-mutated metastatic breast cancer.
Yi Z et al.
Npj Breast Cancer, 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
Association of EZH2 protein expression by immunohistochemistry in myelodysplasia related neoplasms with mutation status, cytogenetics and clinical outcomes.
McGraw KL et al.
British Journal of Haematology, 2019
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
Loss of maternal EED results in postnatal overgrowth.
Prokopuk L et al.
Clinical Epigenetics, 2018
Distinct age-associated molecular profiles in acute myeloid leukemia defined by comprehensive clinical genomic profiling.
Tarlock K et al.
Oncotarget, 2018
[Spectrum of somatic mutations and their prognostic significance in adult patients with B cell acute lymphoblastic leukemia].
Feng J et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2018
The role of LNK/SH2B3 genetic alterations in myeloproliferative neoplasms and other hematological disorders.
Maslah N et al.
Leukemia, 2017
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