Associated Papers
Hematologic Cancer after Gene Therapy for Cerebral Adrenoleukodystrophy.
Duncan CN et al.
The New England Journal of Medicine, 2024
The E592K variant of SF3B1 creates unique RNA missplicing and associates with high-risk MDS without ring sideroblasts.
Choi IY et al.
Blood Advances, 2024
Whole Exome Sequencing of Intermediate-Risk Acute Myeloid Leukemia without Recurrent Genetic Abnormalities Offers Deeper Insights into New Diagnostic Classifications.
Guijarro F et al.
International Journal of Molecular Sciences, 2024
Molecular and clinical analyses of PHF6 mutant myeloid neoplasia provide their pathogenesis and therapeutic targeting.
Kubota Y et al.
Nature Communications, 2024
Clonal selection of hematopoietic stem cells after gene therapy for sickle cell disease.
Spencer Chapman M et al.
Nature Medicine, 2023
Mining cancer genomes for change-of-metabolic-function mutations.
Tu KJ et al.
Communications Biology, 2023
Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41.
Homan CC et al.
Blood Advances, 2023
S56F UBA1 variant is associated with haematological predominant subtype of VEXAS.
Al-Hakim A et al.
British 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
Compartment-specific mutational landscape of clonal hematopoiesis.
Hartmann L et al.
Leukemia, 2022
Acquired somatic variants in inherited myeloid malignancies.
Armes H et al.
Leukemia, 2022
Monitoring Minimal Residual Disease in RUNX1-Mutated Acute Myeloid Leukemia.
Nachmias B et al.
Acta Haematologica, 2022
Clinical and genomic characterization of patients diagnosed with the provisional entity acute myeloid leukemia with BCR-ABL1, a Swedish population-based study.
Orsmark-Pietras C et al.
Genes, Chromosomes & Cancer, 2021
The Mutational Landscape of Acute Myeloid Leukaemia Predicts Responses and Outcomes in Elderly Patients from the PETHEMA-FLUGAZA Phase 3 Clinical Trial.
Ayala R et al.
Cancers, 2021
Enrichment of Double RUNX1 Mutations in Acute Leukemias of Ambiguous Lineage.
Merati G et al.
Frontiers in Oncology, 2021
Integration of intra-sample contextual error modeling for improved detection of somatic mutations from deep sequencing.
Abelson S et al.
Science Advances, 2020
Clonal evolution of acute myeloid leukemia revealed by high-throughput single-cell genomics.
Morita K et al.
Nature Communications, 2020
High frequency of germline RUNX1 mutations in patients with RUNX1-mutated AML.
Simon L et al.
Blood, 2020
RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML.
Brown AL et al.
Blood Advances, 2020
Controversies about germline RUNX1 missense variants.
Duployez N et al.
Leukemia & Lymphoma, 2020
Invariant patterns of clonal succession determine specific clinical features of myelodysplastic syndromes.
Nagata Y et al.
Nature Communications, 2019
appreci8: a pipeline for precise variant calling integrating 8 tools.
Sandmann S et al.
Bioinformatics (oxford, England), 2018
Distinct age-associated molecular profiles in acute myeloid leukemia defined by comprehensive clinical genomic profiling.
Tarlock K et al.
Oncotarget, 2018
Mutations in the DNA methylation pathway and number of driver mutations predict response to azacitidine in myelodysplastic syndromes.
Cedena MT et al.
Oncotarget, 2017
Chemogenomic Landscape of RUNX1-mutated AML Reveals Importance of RUNX1 Allele Dosage in Genetics and Glucocorticoid Sensitivity.
Simon L et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017
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
Myeloid neoplasms with isolated isochromosome 17q demonstrate a high frequency of mutations in SETBP1, SRSF2, ASXL1 and NRAS.
Kanagal-Shamanna R et al.
Oncotarget, 2016
Biological Activities of RUNX1 Mutants Predict Secondary Acute Leukemia Transformation from Chronic Myelomonocytic Leukemia and Myelodysplastic Syndromes.
Tsai SC et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2015
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013