Associated Papers
CALR-mutant myeloproliferative neoplasms: insights from next-generation sequencing.
Mroczkowska-Bękarciak A et al.
Journal of Applied Genetics, 2026
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
Impact of myelodysplasia-related gene mutations and residual mutations at remission in venetoclax/azacitidine for AML.
Ikoma Y et al.
Leukemia, 2025
cfDNA Chimerism and Somatic Mutation Testing in Early Prediction of Relapse After Allogeneic Stem Cell Transplantation for Myeloid Malignancies.
Rowley SD et al.
Cancers, 2025
Emergence and Cytogenetic Clonal Evolution of Chromosome 7 Abnormalities in Myeloid Malignancies: Investigating the Role of Telomere Dysfunction.
Baldazzi C et al.
International Journal of Molecular Sciences, 2025
Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERK-mediated monocyte activation.
Bohlen J et al.
The Journal of Clinical Investigation, 2024
Genomic ascertainment to quantify prevalence and cancer risk in adults with pathogenic and likely pathogenic germline variants in RASopathy genes.
Kim J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Genomic characterization of AML with aberrations of chromosome 7: a multinational cohort of 519 patients.
Halik A et al.
Journal of Hematology & Oncology, 2024
Long-term remission of infantile Takayasu arteritis associated with germline CBL syndrome after allogeneic hematopoietic stem cell transplantation: A case report and literature review.
Munoz-Osores E et al.
Transplant Immunology, 2024
Molecular-defined clonal evolution in patients with classical myeloproliferative neoplasms.
Hinze A et al.
British Journal of Haematology, 2023
SPINK2 Protein Expression Is an Independent Adverse Prognostic Marker in AML and Is Potentially Implicated in the Regulation of Ferroptosis and Immune Response.
Pitts HA et al.
International Journal of Molecular Sciences, 2023
Transient immune deficiency accompanied with homozygous CBL rare variant.
Morishita A et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2023
Description of an Institutional Cohort of Myeloid Neoplasms Carrying ETV6-Locus Deletions or ETV6 Rearrangements.
Papadopoulou V et al.
Acta Haematologica, 2023
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
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
The functional landscape of the human phosphoproteome.
Ochoa D et al.
Nature Biotechnology, 2020
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
De novo mutations in CBL causing early-onset paediatric moyamoya angiopathy.
Guey S et al.
Journal of Medical Genetics, 2017
The genomic landscape of juvenile myelomonocytic leukemia.
Stieglitz E et al.
Nature Genetics, 2015
Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations.
Bülow L et al.
American Journal of Medical Genetics. Part A, 2015
Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia.
Niemeyer CM et al.
Nature Genetics, 2010