Associated Papers
Integrating evidence from protein domains to identify cancer driver mutations.
Ostroverkhova D et al.
Protein Science : a Publication of the Protein Society, 2026
Generation and characterization of human iPSC line SANi012-A from a patient with an inherited platelet disorder carrying the heterozygous ETV6 c.1105C > T variant.
Zhang H et al.
Stem Cell Research, 2025
Genetic characteristics of blastic plasmacytoid dendritic cell neoplasm: A single institution experience.
Fei F et al.
Oncotarget, 2025
Large clones of clonal hematopoiesis affect outcome in mantle cell lymphoma: results from the FIL MCL0208 clinical trial.
Ragaini S et al.
Blood Advances, 2025
Longitudinal Glioma Monitoring via Cerebrospinal Fluid Cell-Free DNA.
Riviere-Cazaux C et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Clinicogenomic landscape of pancreatic adenocarcinoma identifies KRAS mutant dosage as prognostic of overall survival.
Varghese AM et al.
Nature Medicine, 2025
Longitudinal ultra-sensitive mutation burden sequencing for precise minimal residual disease assessment in AML.
Wu Y et al.
Nature Communications, 2024
Mutant U2AF1-Induced Mis-Splicing of mRNA Translation Genes Confers Resistance to Chemotherapy in Acute Myeloid Leukemia.
Jin P et al.
Cancer Research, 2024
Refined cytogenetic IPSS-R evaluation by the use of SNP array in a cohort of 290 MDS patients.
Scarpelli I et al.
Genes, Chromosomes & Cancer, 2023
Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.
Sakthikumar S et al.
Veterinary and Comparative Oncology, 2023
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup.
Marconi C et al.
Haematologica, 2023
Molecular and clinicopathologic characterization of pediatric histiocytoses.
Hélias-Rodzewicz Z et al.
American Journal of Hematology, 2023
The clinical and molecular spectrum of ETV6 mutated myeloid neoplasms.
Gurney M et al.
British Journal of Haematology, 2023
Non-driver mutations landscape in different stages of primary myelofibrosis determined ASXL1 mutations play a critical role in disease progression.
Yan X et al.
Blood Cancer Journal, 2023
Proteomic landscapes of inherited platelet disorders with different etiologies.
Kreft IC et al.
Journal of Thrombosis and Haemostasis : Jth, 2023
Transcriptome-based molecular subtypes and differentiation hierarchies improve the classification framework of acute myeloid leukemia.
Cheng WY et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
Diagnostic value of genetic mutation analysis and mutation profiling of cell-free DNA in intraocular fluid for vitreoretinal lymphoma.
Chen X et al.
Cancer Communications (london, England), 2022
ETV6-related thrombocytopenia: dominant negative effect of mutations as common pathogenic mechanism.
Faleschini M et al.
Haematologica, 2022
Pan-cancer assessment of mutational landscape in intrinsically disordered hotspots reveals potential driver genes.
Zou H et al.
Nucleic Acids Research, 2022
Sex-Biased ZRSR2 Mutations in Myeloid Malignancies Impair Plasmacytoid Dendritic Cell Activation and Apoptosis.
Togami K et al.
Cancer Discovery, 2022
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.
Megy K et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
Histiocytic and Dendritic Cell Sarcomas of Hematopoietic Origin Share Targetable Genomic Alterations Distinct from Follicular Dendritic Cell Sarcoma.
Massoth LR et al.
The Oncologist, 2021
New progress in the study of germline susceptibility genes of myeloid neoplasms.
Bi L et al.
Oncology Letters, 2021
Molecular basis of ETV6-mediated predisposition to childhood acute lymphoblastic leukemia.
Nishii R et al.
Blood, 2021
Inherited thrombocytopenias: history, advances and perspectives.
Nurden AT et al.
Haematologica, 2020
Reassessing the role of high dose cytarabine and mitoxantrone in relapsed/refractory acute myeloid leukemia.
Canaani J et al.
Oncotarget, 2020
ETV6: A Candidate Gene for Predisposition to "Blend Pedigrees"? A Case Report from the NEXT-Famly Clinical Trial.
Bernardi S et al.
Case Reports in Hematology, 2020
Invariant patterns of clonal succession determine specific clinical features of myelodysplastic syndromes.
Nagata Y et al.
Nature Communications, 2019
ETV6-related thrombocytopenia and leukemia predisposition.
Di Paola J et al.
Blood, 2019
Analysis of error profiles in deep next-generation sequencing data.
Ma X et al.
Genome Biology, 2019
Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.
Koyama T et al.
Bmc Cancer, 2019
Detection of a new heterozygous germline ETV6 mutation in a case with hyperdiploid acute lymphoblastic leukemia.
Duployez N et al.
European Journal of Haematology, 2018
The genomic landscape of pediatric myelodysplastic syndromes.
Schwartz JR et al.
Nature Communications, 2017
Implications of mutational spectrum in myelodysplastic syndromes based on targeted next-generation sequencing.
Xu Y et al.
Oncotarget, 2017
Germline SAMD9 mutation in siblings with monosomy 7 and myelodysplastic syndrome.
Schwartz JR et al.
Leukemia, 2017
Germline ETV6 mutations and predisposition to hematological malignancies.
Feurstein S et al.
International Journal of Hematology, 2017
ETV6 in hematopoiesis and leukemia predisposition.
Hock H et al.
Seminars in Hematology, 2017
Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia.
Melazzini F et al.
Haematologica, 2016
Germline genetic variation in ETV6 and risk of childhood acute lymphoblastic leukaemia: a systematic genetic study.
Moriyama T et al.
The Lancet. Oncology, 2015
Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia.
Topka S et al.
Plos Genetics, 2015
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.
Zhang MY et al.
Nature Genetics, 2015
Functional consequences of somatic mutations in cancer using protein pocket-based prioritization approach.
Vuong H et al.
Genome Medicine, 2014