Associated Papers
Comparison of somatic variant oncogenicity classification using ClinGen/CGC/VICC guidelines and QIAGEN Clinical Insight Interpret decision support software.
Goverdhan A et al.
Cancer Genetics, 2025
Molecular landscape and clinical outcome of SRSF2/TET2 Co-mutated myeloid neoplasms.
Cockey SG et al.
Leukemia & Lymphoma, 2025
Mutation of Epigenetic Regulators at Diagnosis Is an Independent Predictor of Tyrosine Kinase Inhibitor Treatment Failure in Chronic Myeloid Leukemia: A Report From the RESIDIAG Study.
Guerineau H et al.
American Journal of Hematology, 2025
Comprehensive Genomic Profiling Alters Clinical Diagnoses in a Significant Fraction of Tumors Suspicious of Sarcoma.
Öfverholm I et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024
Mutation and cell state compatibility is required and targetable in Ph+ acute lymphoblastic leukemia minimal residual disease.
Winter PS et al.
Biorxiv : the Preprint Server for Biology, 2024
Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.
Vanni I et al.
Journal of Translational Medicine, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Leukocytes carrying Clonal Hematopoiesis of Indeterminate Potential (CHIP) Mutations invade Human Atherosclerotic Plaques.
von Scheidt M et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
The genomic analysis brings a new piece to the molecular jigsaw of idiopathic erythrocytosis.
Zagaria A et al.
Experimental Hematology & Oncology, 2022
Comprehensive Analysis of Acquired Genetic Variants and Their Prognostic Impact in Systemic Mastocytosis.
González-López O et al.
Cancers, 2022
Acquired somatic variants in inherited myeloid malignancies.
Armes H et al.
Leukemia, 2022
Pedigree investigation, clinical characteristics, and prognosis analysis of haematological disease patients with germline TET2 mutation.
Wu X et al.
Bmc Cancer, 2022
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
Erythrocytosis with JAK2 GGCC_46/1 haplotype and without JAK2 V617F mutation is associated with CALR rs1049481_G allele.
Anelli L et al.
Leukemia, 2021
Comprehensive diagnostics of acute myeloid leukemia by whole transcriptome RNA sequencing.
Arindrarto W et al.
Leukemia, 2021
Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.
Sprissler R et al.
Cancers, 2020
TET2 missense variants in human neoplasia. A proposal of structural and functional classification.
Bussaglia E et al.
Molecular Genetics & Genomic Medicine, 2019
Validation and Clinical Applications of a Comprehensive Next Generation Sequencing System for Molecular Characterization of Solid Cancer Tissues.
Dehghani M et al.
Frontiers in Molecular Biosciences, 2019
appreci8: a pipeline for precise variant calling integrating 8 tools.
Sandmann S et al.
Bioinformatics (oxford, England), 2018
Mutation profiling by targeted sequencing of "triple-negative" essential thrombocythaemia patients.
Ju M et al.
British Journal of Haematology, 2018
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL et al.
Plos One, 2018
Re-emergence of acute myeloid leukemia in donor cells following allogeneic transplantation in a family with a germline DDX41 mutation.
Berger G et al.
Leukemia, 2017
Targeted resequencing analysis of 31 genes commonly mutated in myeloid disorders in serial samples from myelodysplastic syndrome patients showing disease progression.
Pellagatti A et al.
Leukemia, 2016
Feature-based classification of amino acid substitutions outside conserved functional protein domains.
Gemovic B et al.
Thescientificworldjournal, 2013
TET2, ASXL1, IDH1, IDH2, and c-CBL genes in JAK2- and MPL-negative myeloproliferative neoplasms.
Martínez-Avilés L et al.
Annals of Hematology, 2012
The Interlaboratory RObustness of Next-generation sequencing (IRON) study: a deep sequencing investigation of TET2, CBL and KRAS mutations by an international consortium involving 10 laboratories.
Kohlmann A et al.
Leukemia, 2011
Genetic characterization of TET1, TET2, and TET3 alterations in myeloid malignancies.
Abdel-Wahab O et al.
Blood, 2009