Associated Papers
Clinical characteristics and whole exome sequencing in JAK2V617F- and CALR-unmutated essential thrombocythemia.
Thammayot S et al.
Hematology (amsterdam, Netherlands), 2026
Leukocytosis and a JAK2 mutation: The importance of expertise in somatic variant interpretation.
Puzo CJ et al.
Leukemia Research Reports, 2026
Nucleotide Substitution Biases in Related Cancer Driver Genes.
Khadre A et al.
International Journal of Molecular Sciences, 2025
A Comprehensive Review of Somatic and Germline Biomarkers Associated with Childhood B-Cell Precursor Acute Lymphoblastic Leukemia: From Biological Significance to Precision Medicine Opportunities.
Martínez Anaya D et al.
Biomedicines, 2025
Molecular landscape and clinical outcome of SRSF2/TET2 Co-mutated myeloid neoplasms.
Cockey SG et al.
Leukemia & Lymphoma, 2025
ctDNA-based liquid biopsy reveals wider mutational profile with therapy resistance and metastasis susceptibility signatures in early-stage breast cancer patients.
Bharde A et al.
The Journal of Liquid Biopsy, 2025
Spotlight on amino acid changing mutations in the JAK-STAT pathway: from disease-specific mutation to general mutation databases.
Hoffmann M et al.
Scientific Reports, 2025
Unraveling the germline inheritance of the JAK2F556V gene mutation in familial thrombocythemia: a comprehensive analysis of 11 family members and potential implications for surveillance.
Meggendorfer M et al.
Haematologica, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
JAK/STAT in human diseases: a common axis in immunodeficiencies and hematological disorders.
Djidjik R et al.
Frontiers in Immunology, 2025
Insights into the role of JAK2-I724T variant in myeloproliferative neoplasms from a unique cohort of New Zealand patients.
Puli'uvea C et al.
Hematology (amsterdam, Netherlands), 2024
Chromosome 9p trisomy increases stem cells clonogenic potential and fosters T-cell exhaustion in JAK2-mutant myeloproliferative neoplasms.
Carretta C et al.
Leukemia, 2024
High-resolution melting assay for rapid, simultaneous detection of JAK2, MPL and CALR variants.
Sande CM et al.
Journal of Clinical Pathology, 2024
Identification of Novel Potential Predisposing Variants in Familial Acute Myeloid Leukemia.
Ronchini C et al.
Cancer Reports (hoboken, N.j.), 2024
Massive parallel sequencing unveils homologous recombination deficiency in follicular dendritic cell sarcoma.
Lorenzi L et al.
Haematologica, 2024
Molecular and clinical analyses of PHF6 mutant myeloid neoplasia provide their pathogenesis and therapeutic targeting.
Kubota Y et al.
Nature Communications, 2024
Idiopathic erythrocytosis: a germline disease?
Elli EM et al.
Clinical and Experimental Medicine, 2024
Coexistence of Multiple Gene Variants in Some Patients with Erythrocytoses.
Benetti A et al.
Mediterranean Journal of Hematology and Infectious Diseases, 2024
Diagnosis- and Prognosis-Related Gene Alterations in BCR::ABL1-Negative Myeloproliferative Neoplasms.
Morishita S et al.
International Journal of Molecular Sciences, 2023
Elevated erythroferrone distinguishes erythrocytosis with inherited defects in oxygen-sensing pathway from primary familial and congenital polycythaemia.
Sochorcova L et al.
British Journal of Haematology, 2023
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
Presence of Myeloid Mutations in Patients with Chronic Myeloid Leukemia Increases Risk of Cardiovascular Event on Tyrosine Kinase Inhibitor Treatment.
Stuckey R et al.
Cancers, 2023
Germline JAK2 E846D Substitution as the Cause of Erythrocytosis?
Maaziz N et al.
Genes, 2023
Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.
Alkhamis FA et al.
Functional & Integrative Genomics, 2023
Shared and divergent contribution of vitamin A and oxytocin to the aetiology of autism spectrum disorder.
Wang T et al.
Computational and Structural Biotechnology Journal, 2023
A germline JAK2 exon12 mutation and a late somatic CALR mutation in a patient with essential thrombocythemia.
Hao Z et al.
Frontiers in Oncology, 2023
Mutational Landscape of Patients Referred for Elevated Hemoglobin Level.
Bhai P et al.
Current Oncology (toronto, Ont.), 2022
Clonal Hematopoiesis at the Crossroads of Inflammatory Bowel Diseases and Hematological Malignancies: A Biological Link?
Cumbo C et al.
Frontiers in Oncology, 2022
NGS Evaluation of a Bernese Cohort of Unexplained Erythrocytosis Patients.
Jalowiec KA et al.
Genes, 2021
A novel mutation in the JAK2 gene (R588S) in a Chinese patient with erythrocytosis.
Ye XP et al.
Annals of Hematology, 2021
Molecular profiling of pediatric and adolescent ependymomas: identification of genetic variants using a next-generation sequencing panel.
Cabral de Carvalho Corrêa D et al.
Journal of Neuro-oncology, 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
Genomic alterations in patients with somatic loss of the Y chromosome as the sole cytogenetic finding in bone marrow cells.
Ouseph MM et al.
Haematologica, 2021
Germline genetic factors in the pathogenesis of myeloproliferative neoplasms.
Bellanné-Chantelot C et al.
Blood Reviews, 2020
Concomitant and noncanonical JAK2 and MPL mutations in JAK2V617F- and MPLW515 L-positive myelofibrosis.
Schulze S et al.
Genes, Chromosomes & Cancer, 2019
Janus kinase 2 variants associated with the transformation of myeloproliferative neoplasms into acute myeloid leukemia.
Benton CB et al.
Cancer, 2019
Next-generation sequencing with a 54-gene panel identified unique mutational profile and prognostic markers in Chinese patients with myelofibrosis.
Gill H et al.
Annals of Hematology, 2019
Next-generation sequencing for JAK2 mutation testing: advantages and pitfalls.
Maslah N et al.
Annals of Hematology, 2019
Somatic Mutations in Philadelphia Chromosome-Negative Myeloproliferative Neoplasms.
Ferreira Cristina S et al.
Seminars in Hematology, 2018
Germline JAK2 L611S mutation in a child with thrombocytosis.
Aral B et al.
Haematologica, 2018
Primary Immunodeficiency and Cancer Predisposition Revisited: Embedding Two Closely Related Concepts Into an Integrative Conceptual Framework.
Haas OA
Frontiers in Immunology, 2018
Advances in understanding the pathogenesis of familial myeloproliferative neoplasms.
Rumi E et al.
British Journal of Haematology, 2017
JAK2 exon 12 mutation-positive myeloproliferative neoplasm associated with recurrent thromboembolism.
Tavakoli V et al.
Blood Research, 2017
Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations.
Camps C et al.
Haematologica, 2016
VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research.
Lai Z et al.
Nucleic Acids Research, 2016