Associated Papers
Clonal haematopoiesis of indeterminate potential and mortality in coronary artery disease.
von Scheidt M et al.
European Heart Journal, 2026
Clonal haematopoiesis associates with distinct cytometric changes of red blood cells and platelets.
Salzbrunn JB et al.
British Journal of Haematology, 2025
Clonal Evolution of PPM1D Mutations in the Spectrum of Myeloid Disorders.
Fandrei D et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Germline DNA Repair Gene Mutations and Clonal Hematopoiesis (CH) in 24,849 Patients with BRCA-Associated Cancers.
Marshall CH et al.
Cancers, 2025
De novo detection of somatic variants in high-quality long-read single-cell RNA sequencing data.
Dondi A et al.
Genome Research, 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
Prevalence and clinical outcomes of germline variants among patients with myeloid neoplasms.
Kongkiatkamon S et al.
Journal of Clinical Pathology, 2025
De novo detection of somatic variants in high-quality long-read single-cell RNA sequencing data.
Dondi A et al.
Biorxiv : the Preprint Server for Biology, 2024
Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.
Sakthikumar S et al.
Veterinary and Comparative Oncology, 2023
Impact of gene alterations on clinical outcome in young adults with myelodysplastic syndromes.
Konishi T et al.
Scientific Reports, 2023
Concurrent Mutations in SF3B1 and PHF6 in Myeloid Neoplasms.
Zuo Z et al.
Biology, 2022
Somatic mutations of activating signalling, transcription factor, and tumour suppressor are a precondition for leukaemia transformation in myelodysplastic syndromes.
Xu F et al.
Journal of Cellular and Molecular Medicine, 2022
Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.
Kar SP et al.
Nature Genetics, 2022
The longitudinal dynamics and natural history of clonal haematopoiesis.
Fabre MA et al.
Nature, 2022
Longitudinal profiling of clonal hematopoiesis provides insight into clonal dynamics.
Uddin MM et al.
Immunity & Ageing : I & A, 2022
Comprehensive Analysis of Acquired Genetic Variants and Their Prognostic Impact in Systemic Mastocytosis.
González-López O et al.
Cancers, 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
Molecular and phenotypic diversity of CBL-mutated juvenile myelomonocytic leukemia.
Hecht A et al.
Haematologica, 2022
Deconvoluting Mechanisms of Acquired Resistance to RAF Inhibitors in BRAFV600E-Mutant Human Glioma.
Schreck KC et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2021
Juvenile myelomonocytic leukemia in CBL syndrome associated with germline splice-site mutations: Two case reports and a literature review.
Cardoso L et al.
Clinical Case Reports, 2021
Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.
Hescheler DA et al.
Frontiers in Endocrinology, 2021
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
SET Domain Containing 2 Deficiency in Myelodysplastic Syndrome.
Li J et al.
Frontiers in Genetics, 2020
Identification of diverse activating mutations of the RAS-MAPK pathway in histiocytic sarcoma.
Shanmugam V et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2019
Integrative omics analyses broaden treatment targets in human cancer.
Sengupta S et al.
Genome Medicine, 2018
Prediction of acute myeloid leukaemia risk in healthy individuals.
Abelson S et al.
Nature, 2018
The genomic landscape of pediatric myelodysplastic syndromes.
Schwartz JR et al.
Nature Communications, 2017
Cbl-mediated K63-linked ubiquitination of JAK2 enhances JAK2 phosphorylation and signal transduction.
Liu CS et al.
Scientific Reports, 2017
CBL family E3 ubiquitin ligases control JAK2 ubiquitination and stability in hematopoietic stem cells and myeloid malignancies.
Lv K et al.
Genes & Development, 2017
Structural Determinants of the Gain-of-Function Phenotype of Human Leukemia-associated Mutant CBL Oncogene.
Nadeau SA et al.
The Journal of Biological Chemistry, 2017
Annotating Mutational Effects on Proteins and Protein Interactions: Designing Novel and Revisiting Existing Protocols.
Li M et al.
Methods in Molecular Biology (clifton, N.j.), 2017
Nonamplification ERBB2 genomic alterations in 5605 cases of recurrent and metastatic breast cancer: An emerging opportunity for anti-HER2 targeted therapies.
Ross JS et al.
Cancer, 2016
Deep Sequencing of Cell-Free Peripheral Blood DNA as a Reliable Method for Confirming the Diagnosis of Myelodysplastic Syndrome.
Albitar F et al.
Genetic Testing and Molecular Biomarkers, 2016
The genomic landscape of juvenile myelomonocytic leukemia.
Stieglitz E et al.
Nature Genetics, 2015
Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.
Martinelli S et al.
Human Mutation, 2015
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Kiel C et al.
Molecular Systems Biology, 2014
CBL linker region and RING finger mutations lead to enhanced granulocyte-macrophage colony-stimulating factor (GM-CSF) signaling via elevated levels of JAK2 and LYN.
Javadi M et al.
The Journal of Biological Chemistry, 2013
Use of CBL exon 8 and 9 mutations in diagnosis of myeloproliferative neoplasms and myelodysplastic/myeloproliferative disorders: an analysis of 636 cases.
Schnittger S et al.
Haematologica, 2012
Predicting the functional impact of protein mutations: application to cancer genomics.
Reva B et al.
Nucleic Acids Research, 2011
Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia.
Niemeyer CM et al.
Nature Genetics, 2010
Next-generation sequencing technology reveals a characteristic pattern of molecular mutations in 72.8% of chronic myelomonocytic leukemia by detecting frequent alterations in TET2, CBL, RAS, and RUNX1.
Kohlmann A et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2010
CBL is frequently altered in lung cancers: its relationship to mutations in MET and EGFR tyrosine kinases.
Tan YH et al.
Plos One, 2010
Mutations in CBL occur frequently in juvenile myelomonocytic leukemia.
Loh ML et al.
Blood, 2009