Associated Papers
Clonal haematopoiesis associates with distinct cytometric changes of red blood cells and platelets.
Salzbrunn JB et al.
British Journal of Haematology, 2025
Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways.
Alnaqbi H et al.
Scientific Reports, 2025
RSK1 is an exploitable dependency in myeloproliferative neoplasms and secondary acute myeloid leukemia.
Kong T et al.
Nature Communications, 2025
Transient immune deficiency accompanied with homozygous CBL rare variant.
Morishita A et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2023
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
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
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes.
Provenzano A et al.
Human Genetics, 2021
Precise base editing for the in vivo study of developmental signaling and human pathologies in zebrafish.
Rosello M et al.
Elife, 2021
Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors.
Akolkar D et al.
Plos One, 2021
Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.
Hescheler DA et al.
Frontiers in Endocrinology, 2021
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Balancing Protein Stability and Activity in Cancer: A New Approach for Identifying Driver Mutations Affecting CBL Ubiquitin Ligase Activation.
Li M et al.
Cancer Research, 2016
Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.
Martinelli S et al.
Human Mutation, 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
RASopathy-associated CBL germline mutations cause aberrant ubiquitylation and trafficking of EGFR.
Brand K et al.
Human Mutation, 2014
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Kiel C et al.
Molecular Systems Biology, 2014
Clonal selection of 11q CN-LOH and CBL gene mutation in a serially studied patient during MDS progression to AML.
Barresi V et al.
Leukemia Research, 2010
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.
Martinelli S et al.
American Journal of Human Genetics, 2010