Detalhe da pesquisa
1.
Intrinsically disordered Meningioma-1 stabilizes the BAF complex to cause AML.
Mol Cell
; 81(11): 2332-2348.e9, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33974912
2.
A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism.
Am J Hum Genet
; 109(12): 2253-2269, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36413998
3.
Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations.
Genet Med
; 19(6): 643-651, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27735924
4.
Disrupted lymphocyte homeostasis in hepatitis-associated acquired aplastic anemia is associated with short telomeres.
Am J Hematol
; 91(2): 243-7, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26615915
5.
Single nucleotide polymorphism array analysis of bone marrow failure patients reveals characteristic patterns of genetic changes.
Br J Haematol
; 164(1): 73-82, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24116929
6.
Analysis of chromosomal structural variation in patients with congenital left-sided cardiac lesions.
Birth Defects Res A Clin Mol Teratol
; 100(12): 951-64, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25066379
7.
Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders.
J Med Genet
; 50(10): 704-14, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23847141
8.
FLT3 tyrosine kinase inhibition modulates PRC2 and promotes differentiation in acute myeloid leukemia.
Leukemia
; 38(2): 291-301, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38182819
9.
Efficient digest of high-throughput sequencing data in a reproducible report.
BMC Bioinformatics
; 14 Suppl 11: S3, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24564231
10.
Patient-derived Colonoids From Disease-spared Tissue Retain Inflammatory Bowel Disease-specific Transcriptomic Signatures.
Gastro Hep Adv
; 2(6): 830-842, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37736163
11.
OpenPBTA: The Open Pediatric Brain Tumor Atlas.
Cell Genom
; 3(7): 100340, 2023 Jul 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37492101
12.
Clonal Replacement Underlies Spontaneous Remission in Paroxysmal Nocturnal Haemoglobinuria.
Br J Haematol
; 176(3): 487-490, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26913981
13.
HOXA Amplification Defines a Genetically Distinct Subset of Angiosarcomas.
Biomolecules
; 12(8)2022 08 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36009018
14.
Inducible Sbds deletion impairs bone marrow niche capacity to engraft donor bone marrow after transplantation.
Blood Adv
; 6(1): 108-120, 2022 01 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34625796
15.
Pathogenicity and impact of HLA class I alleles in aplastic anemia patients of different ethnicities.
JCI Insight
; 7(22)2022 11 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36219480
16.
Mitochondrial genome sequence analysis: a custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracy.
BMC Bioinformatics
; 12: 402, 2011 Oct 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-22011106
17.
Genome-Wide Association Studies of Conotruncal Heart Defects with Normally Related Great Vessels in the United States.
Genes (Basel)
; 12(7)2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34356046
18.
Menin is necessary for long term maintenance of meningioma-1 driven leukemia.
Leukemia
; 35(5): 1405-1417, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33542482
19.
CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics.
BMC Bioinformatics
; 11: 74, 2010 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-20132550
20.
Specific patterns of H3K79 methylation influence genetic interaction of oncogenes in AML.
Blood Adv
; 4(13): 3109-3122, 2020 07 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-32634241