Detalhe da pesquisa
1.
High-resolution simulations of chromatin folding at genomic rearrangements in malignant B cells provide mechanistic insights into proto-oncogene deregulation.
Genome Res;
2022 Jul 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35863900
2.
Dynamics of broad H3K4me3 domains uncover an epigenetic switch between cell identity and cancer-related genes.
Genome Res;
32(7): 1328-1342, 2022 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34162697
3.
Epigenomic translocation of H3K4me3 broad domains over oncogenes following hijacking of super-enhancers.
Genome Res;
32(7): 1343-1354, 2022 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34933939
4.
Broad H3K4me3 domains: Maintaining cellular identity and their implication in super-enhancer hijacking.
Bioessays;
45(10): e2200239, 2023 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37350339
5.
Molecular characterization and clinical outcome of B-cell precursor acute lymphoblastic leukemia with IG-MYC rearrangement.
Haematologica;
108(3): 717-731, 2023 03 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35484682
6.
Novel de novo pathogenic variant in the GNAI1 gene as a cause of severe disorders of intellectual development.
J Hum Genet;
67(4): 209-214, 2022 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34819662
7.
Germline TET2 loss of function causes childhood immunodeficiency and lymphoma.
Blood;
136(9): 1055-1066, 2020 08 27.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32518946
8.
Microhomology-mediated end joining drives complex rearrangements and overexpression of MYC and PVT1 in multiple myeloma.
Haematologica;
105(4): 1055-1066, 2020 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31221783
9.
The spectrum of somatic mutations in monoclonal gammopathy of undetermined significance indicates a less complex genomic landscape than that in multiple myeloma.
Haematologica;
102(9): 1617-1625, 2017 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28550183
10.
A first Czech analysis of 1887 cases with monoclonal gammopathy of undetermined significance.
Eur J Haematol;
99(1): 80-90, 2017 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28384387
11.
Heterogenous mutation spectrum and deregulated cellular pathways in aberrant plasma cells underline molecular pathology of light-chain amyloidosis.
Haematologica;
106(2): 601-604, 2021 02 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32381580
12.
Genomewide profiling of copy-number alteration in monoclonal gammopathy of undetermined significance.
Eur J Haematol;
97(6): 568-575, 2016 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27157252
13.
[First experiences with preimplantation genetic screening of chromosomal aberrations using oligonucleotide-based array comparative genomic hybridization]. / První zkusenosti s preimplantacním genetickým screeningem chromozomových abnormalit pomocí komparativní genomové hybridizace na oligonukleotidových DNA mikrocipech.
Cas Lek Cesk;
154(3): 127-31, 2015.
Artigo
em Tcheco
| MEDLINE
| ID: mdl-26311028
14.
Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders.
Orphanet J Rare Dis;
19(1): 41, 2024 Feb 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38321498
15.
A unique case of Bloom syndrome with a combination of genetic hits: A lesson from triobased exome sequencing: A case report.
Mol Med Rep;
27(5)2023 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37052241
16.
Structural variants shape the genomic landscape and clinical outcome of multiple myeloma.
Blood Cancer J;
12(5): 85, 2022 05 30.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35637217
17.
Case Report: Contiguous Xq22.3 Deletion Associated with ATS-ID Syndrome: From Genotype to Further Delineation of the Phenotype.
Front Genet;
12: 750110, 2021.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34777475
18.
GATA2 deficiency phenotype associated with tandem duplication of GATA2 and overexpression of GATA2-AS1.
Blood Adv;
5(24): 5631-5635, 2021 12 28.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34638133
19.
Whole-genome sequencing reveals progressive versus stable myeloma precursor conditions as two distinct entities.
Nat Commun;
12(1): 1861, 2021 03 25.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33767199
20.
Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2.
Sci Immunol;
4(42)2019 12 13.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31836668