Associated Papers
Development of a Tagmentation-Based Next-Generation Sequencing Clinical Assay as an Alternative to Capillary Electrophoresis-Based Sequencing.
Kuek WCD et al.
Molecular Genetics & Genomic Medicine, 2024
Liquid biopsy-based circulating tumour (ct)DNA analysis of a spectrum of myeloid and lymphoid malignancies yields clinically actionable results.
Mata DA et al.
Histopathology, 2024
Germline MPL mutations may be a rare cause of "triple-negative" thrombocytosis.
Borsani O et al.
Experimental Hematology, 2024
Modulation of human thrombopoietin receptor conformations uncouples JAK2 V617F-driven activation from cytokine-induced stimulation.
Papadopoulos N et al.
Blood, 2023
Diagnosis- and Prognosis-Related Gene Alterations in BCR::ABL1-Negative Myeloproliferative Neoplasms.
Morishita S et al.
International Journal of Molecular Sciences, 2023
37629188 (PubMed )
Supplement: ijms-24-13008-s001.zip › ijms-2555672-supplementary.pdf
Constitutive activation and oncogenicity are mediated by loss of helical structure at the cytosolic boundary of thrombopoietin receptor mutant dimers.
Defour JP et al.
Elife, 2023
Effects of calreticulin mutations on cell transformation and immunity.
Desikan H et al.
Journal of Cellular and Molecular Medicine, 2023
Concurrent Mutations in SF3B1 and PHF6 in Myeloid Neoplasms.
Zuo Z et al.
Biology, 2022
36671709 (PubMed )
Supplement: biology-12-00013-s001.zip › biology-2072813-supplementary.xlsx › Suppl_tbl_Vaf
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
35835912 (PubMed )
Supplement: 41588_2022_1121_MOESM3_ESM.xlsx › ST4
Mutation profiling by targeted sequencing of "triple-negative" essential thrombocythaemia patients.
Ju M et al.
British Journal of Haematology, 2018
Genomic profile of a patient with triple negative essential thrombocythemia, unresponsive to therapy: A case report and literature review.
Zaidi U et al.
Journal of Advanced Research, 2017
Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.
Keel SB et al.
Haematologica, 2016
Validation of a next-generation-sequencing cancer panel for use in the clinical laboratory.
Simen BB et al.
Archives of Pathology & Laboratory Medicine, 2015
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
25203624 (PubMed )
Supplement: ncomms5835-s5.xlsx › List_of_all_discovered_variants
Clinical utility gene card for: hereditary thrombocythemia.
Hussein K et al.
European Journal of Human Genetics : Ejhg, 2014
Laboratory practice guidelines for detecting and reporting JAK2 and MPL mutations in myeloproliferative neoplasms: a report of the Association for Molecular Pathology.
Gong JZ et al.
The Journal of Molecular Diagnostics : Jmd, 2013
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