Detalhe da pesquisa
1.
Enhancer retargeting of CDX2 and UBTF::ATXN7L3 define a subtype of high-risk B-progenitor acute lymphoblastic leukemia.
Blood
; 139(24): 3519-3531, 2022 06 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35192684
2.
Utility of clinical comprehensive genomic characterization for diagnostic categorization in patients presenting with hypocellular bone marrow failure syndromes.
Haematologica
; 106(1): 64-73, 2021 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32054657
3.
Description of a novel subtype of acute myeloid leukemia defined by recurrent CBFB insertions.
Blood
; 141(7): 800-805, 2023 02 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36179268
4.
Therapeutic options for mucinous ovarian carcinoma.
Gynecol Oncol
; 156(3): 552-560, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31902686
5.
Erratum to: Utility of clinical comprehensive genomic characterization for diagnostic categorization in patients presenting with hypocellular bone marrow failure syndromes.
Haematologica
; 109(4): 1311, 2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38562077
6.
Variant acute promyelocytic leukaemia with novel NAB2::RARA fusion shows clinical all-trans retinoic acid and arsenic trioxide sensitivity.
Br J Haematol
; 202(4): 893-896, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37280781
7.
Methyl-CpG binding domain 4, DNA glycosylase (MBD4)-associated neoplasia syndrome associated with a homozygous missense variant in MBD4: Expansion of an emerging phenotype.
Br J Haematol
; 198(1): 196-199, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35381620
8.
Inotuzumab ozogamicin resistance associated with a novel CD22 truncating mutation in a case of B-acute lymphoblastic leukaemia.
Br J Haematol
; 191(1): 123-126, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32648276
9.
A synonymous GATA2 variant underlying familial myeloid malignancy with striking intrafamilial phenotypic variability.
Br J Haematol
; 190(5): e297-e301, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32488879
10.
Genomic aberrations of BRCA1-mutated fallopian tube carcinomas.
Am J Pathol
; 184(6): 1871-6, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24726640
11.
Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles.
PLoS Genet
; 8(9): e1002894, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23028338
12.
Inferring copy number and genotype in tumour exome data.
BMC Genomics
; 15: 732, 2014 Aug 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-25167919
13.
RNF43 is a tumour suppressor gene mutated in mucinous tumours of the ovary.
J Pathol
; 229(3): 469-76, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23096461
14.
Detection of clinically relevant early genomic lesions in B-cell malignancies from circulating tumour DNA using a single hybridisation-based next generation sequencing assay.
Br J Haematol
; 183(1): 146-149, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28880377
15.
CONTRA: copy number analysis for targeted resequencing.
Bioinformatics
; 28(10): 1307-13, 2012 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22474122
16.
Persistence of UBTF tandem duplications in remission in acute myeloid leukaemia.
EJHaem
; 4(4): 1105-1109, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-38024622
17.
Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients.
Hum Mutat
; 33(1): 95-9, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21990120
18.
JAFFAL: detecting fusion genes with long-read transcriptome sequencing.
Genome Biol
; 23(1): 10, 2022 01 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34991664
19.
Analysis of the mitogen-activated protein kinase kinase 4 (MAP2K4) tumor suppressor gene in ovarian cancer.
BMC Cancer
; 11: 173, 2011 May 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-21575258
20.
Publisher Correction: CNspector: a web-based tool for visualisation and clinical diagnosis of copy number variation from next generation sequencing.
Sci Rep
; 10(1): 10400, 2020 Jun 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-32576910