Associated Papers
Dominant-negative effects of Weaver syndrome-associated EZH2 variants.
Deevy O et al.
Genes & Development, 2025
Oncogenic Role of Aberrant EZH2 in Hepatoblastoma.
Glaser K et al.
Biorxiv : the Preprint Server for Biology, 2025
Patient tissue-derived FGFR4-variant and wild-type colorectal cancer organoid development and anticancer drug sensitivity testing.
Lin H et al.
Heliyon, 2024
Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.
Vanni I et al.
Journal of Translational Medicine, 2024
Proinflammatory phenotype of iPS cell-derived JAK2 V617F megakaryocytes induces fibrosis in 3D in vitro bone marrow niche.
Flosdorf N et al.
Stem Cell Reports, 2024
Two-Time Multiplexed Targeted Next-Generation Sequencing Might Help the Implementation of Germline Screening Tools for Myelodysplastic Syndromes/Hematologic Neoplasms.
Calvete O et al.
Biomedicines, 2023
Subclones with variants of uncertain clinical significance might contribute to ineffective hemopoiesis and leukemia predisposition.
Giudice V et al.
European Journal of Haematology, 2023
COMPASS: joint copy number and mutation phylogeny reconstruction from amplicon single-cell sequencing data.
Sollier E et al.
Nature Communications, 2023
Answer to Gerber et al. "Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy".
Gál A et al.
Embo Molecular Medicine, 2023
Extreme Gradient Boosting Tuned with Metaheuristic Algorithms for Predicting Myeloid NGS Onco-Somatic Variant Pathogenicity.
Pellegrino E et al.
Bioengineering (basel, Switzerland), 2023
Simplified algorithm for genetic subtyping in diffuse large B-cell lymphoma.
Shen R et al.
Signal Transduction and Targeted Therapy, 2023
Polycomb Alterations in Acute Myeloid Leukaemia: From Structure to Function.
Bhattacharyya T et al.
Cancers, 2023
Application of circulating tumour DNA in terms of prognosis prediction in Chinese follicular lymphoma patients.
Zhao M et al.
Frontiers in Genetics, 2023
Concurrent Mutations in SF3B1 and PHF6 in Myeloid Neoplasms.
Zuo Z et al.
Biology, 2022
A common pattern of somatic mutations in t-MDS/AML of patients treated with PARP inhibitors for metastatic ovarian cancer.
Chiusolo P et al.
American Journal of Hematology, 2022
Sensitization of Patient-Derived Colorectal Cancer Organoids to Photon and Proton Radiation by Targeting DNA Damage Response Mechanisms.
Pape K et al.
Cancers, 2022
Whole exome sequencing and co-expression analysis identify an SCN1A variant that modifies pathogenicity in a family with genetic epilepsy and febrile seizures plus.
Hammer MF et al.
Epilepsia, 2022
Unravelling genetic variants of a swedish family with high risk of prostate cancer.
Barilla S et al.
Hereditary Cancer in Clinical Practice, 2022
Histological and immunohistochemical features and genetic alterations in the malignant progression of giant cell tumor of bone: a possible association with TP53 mutation and loss of H3K27 trimethylation.
Ishihara S et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022
Identification of a novel HOOK3-FGFR1 fusion gene involved in activation of the NF-kappaB pathway.
Zhang X et al.
Cancer Cell International, 2022
Plasma Concentrations and Cancer-Associated Mutations in Cell-Free Circulating DNA of Treatment-Naive Follicular Lymphoma for Improved Non-Invasive Diagnosis and Prognosis.
Hatipoğlu T et al.
Frontiers in Oncology, 2022
Analysis of EZH2 Genetic Variants on Triple-Negative Breast Cancer Susceptibility and Pathology.
Liu LC et al.
International Journal of Medical Sciences, 2022
Genetics and clinical phenotype of Erdheim-Chester disease: A case report of constrictive pericarditis and a systematic review of the literature.
Bartoli L et al.
Frontiers in Cardiovascular Medicine, 2022
Networking for advanced molecular diagnosis in acute myeloid leukemia patients is possible: the PETHEMA NGS-AML project
Sargas C et al.
Haematologica, 2021
Calibration-free NGS quantitation of mutations below 0.01% VAF.
Dai P et al.
Nature Communications, 2021
Analysis of Relationships between Immune Checkpoint and Methylase Gene Polymorphisms and Outcomes after Unrelated Bone Marrow Transplantation.
Takahashi H et al.
Cancers, 2021
First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia and literature review.
Fu W et al.
Bmc Medical Genomics, 2021
Current views on the genetic landscape and management of variant acute promyelocytic leukemia.
Zhang X et al.
Biomarker Research, 2021
Targeted transcriptome analysis using synthetic long read sequencing uncovers isoform reprograming in the progression of colon cancer.
Liu S et al.
Communications Biology, 2021
Triple-Negative Essential Thrombocythemia: Clinical-Pathological and Molecular Features. A Single-Center Cohort Study.
Cattaneo D et al.
Frontiers in Oncology, 2021
Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.
Feng Y et al.
Frontiers in Cell and Developmental Biology, 2021
Enhancer of zeste 2 polycomb repressive complex 2 subunit polymorphisms in melanoma skin cancer risk.
Belpinati F et al.
Experimental Dermatology, 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
Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.
Wu N et al.
Journal of Cellular and Molecular Medicine, 2020
A novel targeted RNA-Seq panel identifies a subset of adult patients with acute lymphoblastic leukemia with BCR-ABL1-like characteristics.
Sánchez R et al.
Blood Cancer Journal, 2020
Genomics of lethal prostate cancer at diagnosis and castration resistance.
Mateo J et al.
The Journal of Clinical Investigation, 2020
Plasma circulating tumor DNA assessment reveals KMT2D as a potential poor prognostic factor in extranodal NK/T-cell lymphoma.
Li Q et al.
Biomarker Research, 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
Clinical and genetic analysis of melanomas arising in acral sites.
Zaremba A et al.
European Journal of Cancer (oxford, England : 1990), 2019
Ultrastructural, cytogenetic, and molecular findings in mast cell leukemia: Case report.
Bosch-Vilaseca A et al.
Clinical Case Reports, 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
Novel EZH2 mutation in a patient with secondary B-cell acute lymphocytic leukemia after deletion 5q myelodysplastic syndrome treated with lenalidomide: A case report.
Burgos S et al.
Medicine, 2019
Comprehensive characterization of the mutational landscape in multiple myeloma cell lines reveals potential drivers and pathways associated with tumor progression and drug resistance.
Vikova V et al.
Theranostics, 2019
Epigenetic Enzyme Mutations: Role in Tumorigenesis and Molecular Inhibitors.
Han M et al.
Frontiers in Oncology, 2019