Detalhe da pesquisa
1.
VarChat: the generative AI assistant for the interpretation of human genomic variations.
Bioinformatics
; 40(4)2024 Mar 29.
Artigo
Inglês
| MEDLINE | ID: mdl-38579245
2.
Prevalence and clinical expression of germ line predisposition to myeloid neoplasms in adults with marrow hypocellularity.
Blood
; 142(7): 643-657, 2023 08 17.
Artigo
Inglês
| MEDLINE | ID: mdl-37216690
3.
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.
Hum Genomics
; 18(1): 44, 2024 Apr 29.
Artigo
Inglês
| MEDLINE | ID: mdl-38685113
4.
Molecular characterization of diffuse large B-cell lymphomas associated with hepatitis C virus infection.
Br J Haematol
; 2024 Mar 05.
Artigo
Inglês
| MEDLINE | ID: mdl-38442902
5.
Incidence and prognosis of clonal hematopoiesis in patients with chronic idiopathic neutropenia.
Blood
; 138(14): 1249-1257, 2021 10 07.
Artigo
Inglês
| MEDLINE | ID: mdl-34166485
6.
Relationship between clone metrics and clinical outcome in clonal cytopenia.
Blood
; 138(11): 965-976, 2021 09 16.
Artigo
Inglês
| MEDLINE | ID: mdl-34255818
7.
Targeted next-generation sequencing reveals molecular heterogeneity in non-chronic lymphocytic leukemia clonal B-cell lymphocytosis.
Hematol Oncol
; 38(5): 689-697, 2020 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-32738175
8.
Comprehensive kinome NGS targeted expression profiling by KING-REX.
BMC Genomics
; 20(1): 307, 2019 Apr 23.
Artigo
Inglês
| MEDLINE | ID: mdl-31014245
9.
Clinical significance of somatic mutation in unexplained blood cytopenia.
Blood
; 129(25): 3371-3378, 2017 06 22.
Artigo
Inglês
| MEDLINE | ID: mdl-28424163
10.
Clinical and molecular characteristics of lymphoplasmacytic lymphoma not associated with an IgM monoclonal protein: A multicentric study of the Rete Ematologica Lombarda (REL) network.
Am J Hematol
; 94(11): 1193-1199, 2019 11.
Artigo
Inglês
| MEDLINE | ID: mdl-31378966
11.
Integrating clinical features and genetic lesions in the risk assessment of patients with chronic myelomonocytic leukemia.
Blood
; 128(10): 1408-17, 2016 09 08.
Artigo
Inglês
| MEDLINE | ID: mdl-27385790
12.
Comparative genomics shows that viral integrations are abundant and express piRNAs in the arboviral vectors Aedes aegypti and Aedes albopictus.
BMC Genomics
; 18(1): 512, 2017 07 05.
Artigo
Inglês
| MEDLINE | ID: mdl-28676109
13.
Pattern of somatic mutations in patients with Waldenström macroglobulinemia or IgM monoclonal gammopathy of undetermined significance.
Haematologica
; 102(12): 2077-2085, 2017 12.
Artigo
Inglês
| MEDLINE | ID: mdl-28983055
14.
Sequential next generation sequencing analysis in homogeneously treated low risk NPM1-mutated acute myeloid leukemia with an adverse clinical outcome.
Am J Hematol
; 97(4): E135-E138, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-35041232
15.
Prognostic impact of somatic mutations on time to first treatment: Results of targeted next-generation sequencing in 211 patients with early stage chronic lymphocytic leukemia.
Am J Hematol
; 96(11): E404-E408, 2021 11 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34329489
16.
Mutational and immunogenetic landscape of HCV-associated B-cell lymphoproliferative disorders.
Am J Hematol
; 96(6): E210-E214, 2021 06 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33755245
17.
BigQ: a NoSQL based framework to handle genomic variants in i2b2.
BMC Bioinformatics
; 16: 415, 2015 Dec 29.
Artigo
Inglês
| MEDLINE | ID: mdl-26714792
18.
A kinetic model-based algorithm to classify NGS short reads by their allele origin.
J Biomed Inform
; 53: 121-7, 2015 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-25311269
19.
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.
medRxiv
; 2023 Aug 04.
Artigo
Inglês
| MEDLINE | ID: mdl-37577678
20.
Enrichment of Double RUNX1 Mutations in Acute Leukemias of Ambiguous Lineage.
Front Oncol
; 11: 726637, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34540694