Associated Papers
Clonal megakaryocyte dysplasia with normal blood values: a covert, thrombosis-prone, early myeloproliferative neoplasm.
Barosi G et al.
Haematologica, 2025
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
38759096 (PubMed )
Supplement: BLOODA_ADV-2023-011260-mmc1.pdf
Enhanced clinical assessment of hematologic malignancies through routine paired tumor and normal sequencing.
Ptashkin RN et al.
Nature Communications, 2023
37898613 (PubMed )
Supplement: 41467_2023_42585_MOESM1_ESM.pdf
Novel, clinically relevant genomic patterns identified by comprehensive genomic profiling in ATRX-deficient IDH-wildtype adult high-grade gliomas.
Bedics G et al.
Scientific Reports, 2023
37891325 (PubMed )
Supplement: 41598_2023_45786_MOESM2_ESM.xlsx › Table_S2
Molecular Analysis of Biliary Tract Cancers with the Custom 3' RACE-Based NGS Panel.
Mitiushkina NV et al.
Diagnostics (basel, Switzerland), 2023
37891989 (PubMed )
Supplement: diagnostics-13-03168-s001.zip › diagnostics-2617903-supplementary.pdf
Genomic Landscape of Normal and Breast Cancer Tissues in a Hungarian Pilot Cohort.
Pipek O et al.
International Journal of Molecular Sciences, 2023
37239898 (PubMed )
Supplement: ijms-24-08553-s001.zip › Supp_Fig_1_new.pdf
The clinical relevance of broad mutational screening of myeloproliferative neoplasms at diagnosis.
Pettersson H et al.
Frontiers in Oncology, 2023
37637067 (PubMed )
Supplement: Table_1.xlsx › Supplementary_table_1
Targeted panel sequencing in the routine diagnosis of mature T- and NK-cell lymphomas: report of 128 cases from two German reference centers.
Böck J et al.
Frontiers in Oncology, 2023
37664054 (PubMed )
Supplement: Table_1.xlsx › Table_S2
A novel start-loss mutation of the SH2B3 gene in a family with myeloproliferative neoplasms.
Beghini A et al.
Hematological Oncology, 2022
High p16 expression and heterozygous RB1 loss are biomarkers for CDK4/6 inhibitor resistance in ER+ breast cancer.
Palafox M et al.
Nature Communications, 2022
36071033 (PubMed )
Supplement: 41467_2022_32828_MOESM4_ESM.xlsx › Fig_2A_and_Table_S4
Whole-Exome Sequencing Identifies Pathogenic Germline Variants in Patients with Lynch-Like Syndrome.
Dos Santos W et al.
Cancers, 2022
36077770 (PubMed )
Supplement: cancers-14-04233-s001.zip › cancers-1703647-Supplementary_Table_S3.xlsx › Supp.Table_S3
Diffuse large B-cell lymphomas in adults with aberrant coexpression of CD10, BCL6, and MUM1 are enriched in IRF4 rearrangements.
Frauenfeld L et al.
Blood Advances, 2022
34654055 (PubMed )
Supplement: advancesADV2021006034-suppl1.pdf
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
35150236 (PubMed )
Supplement: btac081_supplementary_data.zip › Table_S6.xlsx › High_Confidence_SNVs
Pedigree investigation, clinical characteristics, and prognosis analysis of haematological disease patients with germline TET2 mutation.
Wu X et al.
Bmc Cancer, 2022
35279121 (PubMed )
Supplement: 12885_2022_9347_MOESM4_ESM.xlsx › Sheet1
Next-Generation Sequencing-Directed Therapy in Patients with Metastatic Breast Cancer in Routine Clinical Practice.
Bruzas S et al.
Cancers, 2021
34572791 (PubMed )
Supplement: cancers-13-04564-s001.zip › cancers-1336427-supplementary › Supplementary_material › Table_S1_-_Genetic_alterations_identified_by_NGS_in_95_patients_with_metastatic_breast_cancer.xlsx › Table_S1
Linking the KIR phenotype with STAT3 and TET2 mutations to identify chronic lymphoproliferative disorders of NK cells.
Pastoret C et al.
Blood, 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
34070172 (PubMed )
Supplement: cancers-13-02458-s001.zip › cancers-1203671-supplementary › Table_S8.xlsx › Hoja2
Improved Variant Detection in Clinical Myeloid NGS Testing by Supplementing a Commercial Myeloid NGS Assay with Custom or Extended Data Filtering and Accessory Fragment Analysis.
Schejbel L et al.
Molecular Diagnosis & Therapy, 2021
Molecular profiling of soft-tissue sarcomas with FoundationOne® Heme identifies potential targets for sarcoma therapy: a single-centre experience.
Scheipl S et al.
Therapeutic Advances in Medical Oncology, 2021
34367342 (PubMed )
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TET2 missense variants in human neoplasia. A proposal of structural and functional classification.
Bussaglia E et al.
Molecular Genetics & Genomic Medicine, 2019
31187595 (PubMed )
Supplement: MGG3-7-e00772-s004.doc
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
31681791 (PubMed )
Supplement: Data_Sheet_14.XLSX › SNV_and_indels
appreci8: a pipeline for precise variant calling integrating 8 tools.
Sandmann S et al.
Bioinformatics (oxford, England), 2018
29945233 (PubMed )
Supplement: bty518_supplementary_data_s7.xlsx › TP_Polymorphisms
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
29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › UK10K_TSG
Phylogenetic analysis of metastatic progression in breast cancer using somatic mutations and copy number aberrations.
Brown D et al.
Nature Communications, 2017
28429735 (PubMed )
Supplement: ncomms14944-s4.xlsx › Patient__7_67
IL-7 Receptor Mutations and Steroid Resistance in Pediatric T cell Acute Lymphoblastic Leukemia: A Genome Sequencing Study.
Li Y et al.
Plos Medicine, 2016
27997540 (PubMed )
Supplement: pmed.1002200.s012.xlsx › 401_mutations
Enrichment of Targetable Mutations in the Relapsed Neuroblastoma Genome.
Padovan-Merhar OM et al.
Plos Genetics, 2016
27997549 (PubMed )
Supplement: pgen.1006501.s002.xlsx › Sheet1
Genomic analyses reveal recurrent mutations in epigenetic modifiers and the JAK-STAT pathway in Sézary syndrome.
Kiel MJ et al.
Nature Communications, 2015
Landscape of genetic lesions in 944 patients with myelodysplastic syndromes.
Haferlach T et al.
Leukemia, 2014
24220272 (PubMed )
Supplement: leu2013336x2.doc
TET2 overexpression in chronic lymphocytic leukemia is unrelated to the presence of TET2 variations.
Hernández-Sánchez M et al.
Biomed Research International, 2014
Feature-based classification of amino acid substitutions outside conserved functional protein domains.
Gemovic B et al.
Thescientificworldjournal, 2013
24348198 (PubMed )
Supplement: 948617.f1.pdf
Genetic characterization of TET1, TET2, and TET3 alterations in myeloid malignancies.
Abdel-Wahab O et al.
Blood, 2009
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