Detalhe da pesquisa
1.
Whole genome deep sequencing analysis of cell-free DNA in samples with low tumour content.
BMC Cancer
; 22(1): 85, 2022 Jan 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-35057759
2.
Octapeptin C4 and polymyxin resistance occur via distinct pathways in an epidemic XDR Klebsiella pneumoniae ST258 isolate.
J Antimicrob Chemother
; 74(3): 582-593, 2019 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30445429
3.
Simulating the dynamics of targeted capture sequencing with CapSim.
Bioinformatics
; 34(5): 873-874, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29092025
4.
sCNAphase: using haplotype resolved read depth to genotype somatic copy number alterations from low cellularity aneuploid tumors.
Nucleic Acids Res
; 45(5): e34, 2017 03 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-27903916
5.
GtTR: Bayesian estimation of absolute tandem repeat copy number using sequence capture and high throughput sequencing.
BMC Bioinformatics
; 19(1): 267, 2018 07 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-30012093
6.
npInv: accurate detection and genotyping of inversions using long read sub-alignment.
BMC Bioinformatics
; 19(1): 261, 2018 07 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-30001702
7.
Realtime analysis and visualization of MinION sequencing data with npReader.
Bioinformatics
; 32(5): 764-6, 2016 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26556383
8.
Use of copy number deletion polymorphisms to assess DNA chimerism.
Clin Chem
; 60(8): 1105-14, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24899692
9.
High-resolution microarray in the assessment of fetal anomalies detected by ultrasound.
Aust N Z J Obstet Gynaecol
; 54(1): 46-52, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24471846
10.
Host gene expression signatures to identify infection type and organ dysfunction in children evaluated for sepsis: a multicentre cohort study.
Lancet Child Adolesc Health
; 8(5): 325-338, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38513681
11.
Application of a new molecular technique for the genetic evaluation of products of conception.
Prenat Diagn
; 33(1): 32-41, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23168908
12.
Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature.
Am J Med Genet B Neuropsychiatr Genet
; 162B(4): 388-403, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23533028
13.
Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio.
Hum Mol Genet
; 19(8): 1618-32, 2010 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20118148
14.
Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays.
Hum Mutat
; 32(12): 1500-6, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21850686
15.
Phenotypic variability of distal 22q11.2 copy number abnormalities.
Am J Med Genet A
; 155A(7): 1623-33, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21671380
16.
Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.
J Med Genet
; 47(5): 299-311, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20452996
17.
Nanopore sequencing as a scalable, cost-effective platform for analyzing polyclonal vector integration sites following clinical T cell therapy.
J Immunother Cancer
; 8(1)2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32527930
18.
Development of a multiplex ligation-dependent probe amplification assay for diagnosis and estimation of the frequency of spinocerebellar ataxia type 15.
Clin Chem
; 55(7): 1415-8, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19423733
19.
Phase I Trial of Inducible Caspase 9 T Cells in Adult Stem Cell Transplant Demonstrates Massive Clonotypic Proliferative Potential and Long-term Persistence of Transgenic T Cells.
Clin Cancer Res
; 25(6): 1749-1755, 2019 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30765390
20.
Multifactorial chromosomal variants regulate polymyxin resistance in extensively drug-resistant Klebsiella pneumoniae.
Microb Genom
; 4(3)2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29431605