Associated Papers
Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.
Nakata E et al.
Cancer Science, 2026
Clonal hematopoiesis associates with prevalent and incident cardiometabolic disease in a cardiac catheterization cohort.
Regan JA et al.
Plos One, 2026
Distinct and convergent effects of SF3B1 mutations in human breast cancer.
Bergman RE et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Clonal haematopoiesis associates with distinct cytometric changes of red blood cells and platelets.
Salzbrunn JB et al.
British Journal of Haematology, 2025
SUGP1 loss drives SF3B1 hotspot mutant missplicing in cancer.
Xing P et al.
Cell Reports, 2025
Splicing factor 3b subunit 1 mutation patterns and prognostic implications in myelodysplastic syndromes, acute myeloid leukemia, and chronic lymphocytic leukemia: A retrospective study of 1691 cases.
Qiao C et al.
Cancer, 2025
Smart Nonuniformity for Calibrating Sequencing Depth of a Targeted Gene Panel to Simultaneously Detect Somatic and Germline Variants.
O'Reilly RL et al.
The Journal of Molecular Diagnostics : Jmd, 2025
Significance of Mutation Spots and Concurrent Gene Mutations on Prognosis and Clinical Outcomes in Myelodysplastic Syndromes With SF3B1 Mutation.
Liu Q et al.
Cancer Medicine, 2025
Comprehensive characterization of early-onset lung cancer, in Chinese young adults.
Tian Y et al.
Nature Communications, 2025
Clonal Hematopoiesis Associates with Prevalent and Incident Cardiometabolic Disease in High-Risk Individuals.
Regan JA et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Error-corrected ultradeep next-generation sequencing for detection of clonal haematopoiesis and haematological neoplasms - sensitivity, specificity and accuracy.
Tursky ML et al.
Plos One, 2025
SF3B1K700E mutation in human embryonic stem cells causes aberrant expression of immune-related genes.
Dastpak M et al.
Plos One, 2025
Longitudinal ultra-sensitive mutation burden sequencing for precise minimal residual disease assessment in AML.
Wu Y et al.
Nature Communications, 2024
Unidirectional association of clonal hematopoiesis with atherosclerosis development.
Díez-Díez M et al.
Nature Medicine, 2024
Influence of the Bone Marrow Microenvironment on Hematopoietic Stem Cell Behavior Post-Allogeneic Transplantation: Development of Clonal Hematopoiesis and Telomere Dynamics.
Kim M et al.
International Journal of Molecular Sciences, 2024
Aberrant spliceosome activity via elevated intron retention and upregulation and phosphorylation of SF3B1 in chronic lymphocytic leukemia.
Kashyap MK et al.
Molecular Therapy. Nucleic Acids, 2024
Mutations in the splicing factor SF3B1 are linked to frequent emergence of HLA-DRlow/neg monocytes in lower-risk myelodysplastic neoplasms.
Winter S et al.
Leukemia, 2024
Mutant U2AF1-Induced Mis-Splicing of mRNA Translation Genes Confers Resistance to Chemotherapy in Acute Myeloid Leukemia.
Jin P et al.
Cancer Research, 2024
Clonal hematopoiesis with DNMT3A and PPM1D mutations impairs regeneration in autologous stem cell transplant recipients.
Stelmach P et al.
Haematologica, 2023
All-CLL: A Capture-based Next-generation Sequencing Panel for the Molecular Characterization of Chronic Lymphocytic Leukemia.
López-Oreja I et al.
Hemasphere, 2023
Long-term longitudinal analysis of 4,187 participants reveals new insights into determinants of incident clonal hematopoiesis.
Uddin MM et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Next-Generation Sequencing-Based Genomic Profiling of Children with Acute Myeloid Leukemia.
Krizsán S et al.
The Journal of Molecular Diagnostics : Jmd, 2023
SF3B1 Mutations Are Associated with Resistance to Non-Genotoxic MDM2 Inhibition in Chronic Lymphocytic Leukemia.
Aptullahoglu E et al.
International Journal of Molecular Sciences, 2023
Concurrent Mutations in SF3B1 and PHF6 in Myeloid Neoplasms.
Zuo Z et al.
Biology, 2022
Aberrant EVI1 splicing contributes to EVI1-rearranged leukemia.
Tanaka A et al.
Blood, 2022
Comprehensive genomic analysis of refractory multiple myeloma reveals a complex mutational landscape associated with drug resistance and novel therapeutic vulnerabilities.
Giesen N et al.
Haematologica, 2022
Myeloma Genome Project Panel is a Comprehensive Targeted Genomics Panel for Molecular Profiling of Patients with Multiple Myeloma.
Sudha P et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2022
Pathophysiologic and clinical implications of molecular profiles resultant from deletion 5q.
Adema V et al.
Ebiomedicine, 2022
The longitudinal dynamics and natural history of clonal haematopoiesis.
Fabre MA et al.
Nature, 2022
Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.
Sobahy TM et al.
Bmc Medical Genomics, 2022
Evaluation of the Clinical Utility of Genomic Profiling to Inform Selection of Clinical Trial Therapy in Salivary Gland Cancer.
Rack S et al.
Cancers, 2022
SF3B1-mutated chronic lymphocytic leukemia shows evidence of NOTCH1 pathway activation including CD20 downregulation
Pozzo F et al.
Haematologica, 2021
Calibration-free NGS quantitation of mutations below 0.01% VAF.
Dai P et al.
Nature Communications, 2021
Clinical, biological, and prognostic implications of SF3B1 co-occurrence mutations in very low/low- and intermediate-risk MDS patients.
Janusz K et al.
Annals of Hematology, 2021
Comparative analysis of targeted next-generation sequencing panels for the detection of gene mutations in chronic lymphocytic leukemia: an ERIC multi-center study.
Sutton LA et al.
Haematologica, 2021
Genetic alterations of SUGP1 mimic mutant-SF3B1 splice pattern in lung adenocarcinoma and other cancers.
Alsafadi S et al.
Oncogene, 2021
Functional and conformational impact of cancer-associated SF3B1 mutations depends on the position and the charge of amino acid substitution.
Canbezdi C et al.
Computational and Structural Biotechnology Journal, 2021
Analytical validation and performance characteristics of a 48-gene next-generation sequencing panel for detecting potentially actionable genomic alterations in myeloid neoplasms.
Rosenthal SH et al.
Plos One, 2021
Genomic mutation profile in progressive chronic lymphocytic leukemia patients prior to first-line chemoimmunotherapy with FCR and rituximab maintenance (REM).
González-Rincón J et al.
Plos One, 2021
Prognostic and predictive role of gene mutations in chronic lymphocytic leukemia: results from the pivotal phase III study COMPLEMENT1.
Tausch E et al.
Haematologica, 2020
Inherited causes of clonal haematopoiesis in 97,691 whole genomes.
Bick AG et al.
Nature, 2020
Clinical utility of target capture-based panel sequencing in hematological malignancies: A multicenter feasibility study.
Yasuda T et al.
Cancer Science, 2020