Associated Papers
APC-related multiple salivary gland lesions: spatial transcriptomic analysis reveals progressive WNT activation.
Chan-Pak-Choon F et al.
The Journal of Pathology, 2025
SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder.
Wong MMK et al.
Nature Communications, 2025
Non-MPL-W515K/L mutations in myeloproliferative neoplasms: Insights from two case reports and a review of the literature.
Tønne Nesse AS et al.
Expert Review of Hematology, 2025
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
Subclones with variants of uncertain clinical significance might contribute to ineffective hemopoiesis and leukemia predisposition.
Giudice V et al.
European Journal of Haematology, 2023
Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.
Machnicki MM et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
Diagnosis and prognosis are supported by integrated assessment of next-generation sequencing in chronic myeloid malignancies. A real-life study.
Vantyghem S et al.
Haematologica, 2021
Identification of two novel mutations in human acute myeloid leukemia cases.
O'Brien G et al.
Leukemia & Lymphoma, 2021
Performances of Targeted RNA Sequencing for the Analysis of Fusion Transcripts, Gene Mutation, and Expression in Hematological Malignancies.
Hayette S et al.
Hemasphere, 2021
Next-Generation Sequencing Improves Diagnosis, Prognosis and Clinical Management of Myeloid Neoplasms.
Carbonell D et al.
Cancers, 2019
Clinical utility of custom-designed NGS panel testing in pediatric tumors.
Surrey LF et al.
Genome Medicine, 2019
Increased burden of rare deleterious variants of the KCNQ1 gene in patients with large‑vessel ischemic stroke.
Janicki PK et al.
Molecular Medicine Reports, 2019
Prognostic impact of gene mutations in myelodysplastic syndromes with ring sideroblasts.
Martín I et al.
Blood Cancer Journal, 2017
The New Immortalized Uroepithelial Cell Line HBLAK Contains Defined Genetic Aberrations Typical of Early Stage Urothelial Tumors.
Hoffmann MJ et al.
Bladder Cancer (amsterdam, Netherlands), 2016
High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders.
Yavarna T et al.
Human Genetics, 2015