Clinical significance of somatic mutation in unexplained blood cytopenia L Malcovati, A Gallì, E Travaglino, I Ambaglio, E Rizzo, E Molteni, C Elena, ... Blood, The Journal of the American Society of Hematology 129 (25), 3371-3378, 2017 | 509 | 2017 |
Integrating clinical features and genetic lesions in the risk assessment of patients with chronic myelomonocytic leukemia C Elena, A Galli, E Such, M Meggendorfer, U Germing, E Rizzo, J Cervera, ... Blood, The Journal of the American Society of Hematology 128 (10), 1408-1417, 2016 | 362 | 2016 |
Clinical effects of driver somatic mutations on the outcomes of patients with myelodysplastic syndromes treated with allogeneic hematopoietic stem-cell transplantation MG Della Porta, A Gallì, A Bacigalupo, S Zibellini, M Bernardi, E Rizzo, ... Journal of clinical oncology 34 (30), 3627-3637, 2016 | 270 | 2016 |
Comparative genomics shows that viral integrations are abundant and express piRNAs in the arboviral vectors Aedes aegypti and Aedes albopictus U Palatini, P Miesen, R Carballar-Lejarazu, L Ometto, E Rizzo, Z Tu, ... BMC genomics 18, 1-15, 2017 | 170 | 2017 |
Pattern of somatic mutations in patients with Waldenström macroglobulinemia or IgM monoclonal gammopathy of undetermined significance M Varettoni, S Zibellini, I Defrancesco, VV Ferretti, E Rizzo, L Malcovati, ... Haematologica 102 (12), 2077, 2017 | 118 | 2017 |
Relationship between clone metrics and clinical outcome in clonal cytopenia A Gallì, G Todisco, E Catamo, C Sala, C Elena, S Pozzi, E Bono, ... Blood, The Journal of the American Society of Hematology 138 (11), 965-976, 2021 | 95 | 2021 |
Scalable and cost-effective NGS genotyping in the cloud Y Souilmi, AK Lancaster, JY Jung, E Rizzo, JB Hawkins, R Powles, ... BMC medical genomics 8, 1-9, 2015 | 36 | 2015 |
BigQ: a NoSQL based framework to handle genomic variants in i2b2 M Gabetta, I Limongelli, E Rizzo, A Riva, D Segagni, R Bellazzi BMC bioinformatics 16, 1-11, 2015 | 35 | 2015 |
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods Genome biology 25 (1), 53, 2024 | 33 | 2024 |
Co-mutation pattern, clonal hierarchy, and clone size concur to determine disease phenotype of SRSF2P95-mutated neoplasms G Todisco, M Creignou, A Gallì, P Guglielmelli, E Rumi, M Roncador, ... Leukemia 35 (8), 2371-2381, 2021 | 30 | 2021 |
Clinical and molecular characteristics of lymphoplasmacytic lymphoma not associated with an IgM monoclonal protein: A multicentric study of the Rete Ematologica Lombarda (REL … M Varettoni, E Boveri, S Zibellini, A Tedeschi, C Candido, VV Ferretti, ... American Journal of Hematology 94 (11), 1193-1199, 2019 | 30 | 2019 |
Incidence and prognosis of clonal hematopoiesis in patients with chronic idiopathic neutropenia G Tsaknakis, A Gallì, S Papadakis, P Kanellou, C Elena, G Todisco, ... Blood, The Journal of the American Society of Hematology 138 (14), 1249-1257, 2021 | 21 | 2021 |
Prevalence and clinical expression of germ line predisposition to myeloid neoplasms in adults with marrow hypocellularity E Molteni, E Bono, A Gallì, C Elena, J Ferrari, N Fiorelli, S Pozzi, ... Blood 142 (7), 643-657, 2023 | 18 | 2023 |
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project SL Stenton, MC O’Leary, G Lemire, GE VanNoy, S DiTroia, VS Ganesh, ... Human Genomics 18 (1), 44, 2024 | 10 | 2024 |
Mutational and immunogenetic landscape of HCV‐associated B‐cell lymphoproliferative disorders I Defrancesco, M Visentini, S Zibellini, YA Minafò, S Rattotti, VV Ferretti, ... American Journal of Hematology 96 (6), E210, 2021 | 10 | 2021 |
Targeted next‐generation sequencing reveals molecular heterogeneity in non‐chronic lymphocytic leukemia clonal B‐cell lymphocytosis I Defrancesco, S Zibellini, E Boveri, M Frigeni, VV Ferretti, E Rizzo, ... Hematological Oncology 38 (5), 689-697, 2020 | 10 | 2020 |
SRSF2 Mutations Identify a Distinct Subtype of Myeloid Neoplasm Across Myelodysplastic Syndromes and Acute Myeloid Leukemia G Todisco, A Gallì, E Travaglino, E Rizzo, E Molteni, C Elena, I Ambaglio, ... Blood, The Journal of the American Society of Hematology 128 (22), 4337-4337, 2016 | 8 | 2016 |
VarChat: the generative AI assistant for the interpretation of human genomic variations F De Paoli, S Berardelli, I Limongelli, E Rizzo, S Zucca Bioinformatics 40 (4), btae183, 2024 | 7 | 2024 |
Enrichment of double RUNX1 mutations in acute leukemias of ambiguous lineage G Merati, M Rossi, A Gallì, E Roncoroni, S Zibellini, E Rizzo, D Pietra, ... Frontiers in Oncology 11, 726637, 2021 | 7 | 2021 |
An AI-based approach driven by genotypes and phenotypes to uplift the diagnostic yield of genetic diseases S Zucca, G Nicora, F De Paoli, MG Carta, R Bellazzi, P Magni, E Rizzo, ... Human Genetics, 1-13, 2024 | 6 | 2024 |