Search details
1.
Genome sequencing and analysis of the Tasmanian devil and its transmissible cancer.
Cell
; 148(4): 780-91, 2012 Feb 17.
Article
in English
| MEDLINE | ID: mdl-22341448
2.
The genomic landscape of acute lymphoblastic leukemia with intrachromosomal amplification of chromosome 21.
Blood
; 142(8): 711-723, 2023 08 24.
Article
in English
| MEDLINE | ID: mdl-37216686
3.
Epigenetic regulator genes direct lineage switching in MLL/AF4 leukemia.
Blood
; 140(17): 1875-1890, 2022 10 27.
Article
in English
| MEDLINE | ID: mdl-35839448
4.
Imaging breast cancer using hyperpolarized carbon-13 MRI.
Proc Natl Acad Sci U S A
; 117(4): 2092-2098, 2020 01 28.
Article
in English
| MEDLINE | ID: mdl-31964840
5.
Detection of long repeat expansions from PCR-free whole-genome sequence data.
Genome Res
; 27(11): 1895-1903, 2017 11.
Article
in English
| MEDLINE | ID: mdl-28887402
6.
Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data.
Genet Med
; 22(5): 945-953, 2020 05.
Article
in English
| MEDLINE | ID: mdl-32066871
7.
Non-invasive analysis of acquired resistance to cancer therapy by sequencing of plasma DNA.
Nature
; 497(7447): 108-12, 2013 May 02.
Article
in English
| MEDLINE | ID: mdl-23563269
8.
Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project.
Genet Med
; 20(10): 1196-1205, 2018 10.
Article
in English
| MEDLINE | ID: mdl-29388947
9.
Familial congenital cataract, coloboma, and nystagmus phenotype with variable expression caused by mutation in PAX6 in a South African family.
Mol Vis
; 24: 407-413, 2018.
Article
in English
| MEDLINE | ID: mdl-29930474
10.
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.
Neurogenetics
; 18(4): 185-194, 2017 Dec.
Article
in English
| MEDLINE | ID: mdl-28842795
11.
A comprehensive catalogue of somatic mutations from a human cancer genome.
Nature
; 463(7278): 191-6, 2010 Jan 14.
Article
in English
| MEDLINE | ID: mdl-20016485
12.
Monitoring chronic lymphocytic leukemia progression by whole genome sequencing reveals heterogeneous clonal evolution patterns.
Blood
; 120(20): 4191-6, 2012 Nov 15.
Article
in English
| MEDLINE | ID: mdl-22915640
13.
Whole-Genome Sequencing Can Identify Clinically Relevant Variants from a Single Sub-Punch of a Dried Blood Spot Specimen.
Int J Neonatal Screen
; 9(3)2023 Sep 21.
Article
in English
| MEDLINE | ID: mdl-37754778
14.
Whole genome sequencing provides comprehensive genetic testing in childhood B-cell acute lymphoblastic leukaemia.
Leukemia
; 37(3): 518-528, 2023 03.
Article
in English
| MEDLINE | ID: mdl-36658389
15.
Integrative genomic analysis of childhood acute lymphoblastic leukaemia lacking a genetic biomarker in the UKALL2003 clinical trial.
Leukemia
; 37(3): 529-538, 2023 03.
Article
in English
| MEDLINE | ID: mdl-36550215
16.
Clinical-grade whole-genome sequencing and 3' transcriptome analysis of colorectal cancer patients.
Genome Med
; 13(1): 33, 2021 02 25.
Article
in English
| MEDLINE | ID: mdl-33632293
17.
Detection of ctDNA in plasma of patients with clinically localised prostate cancer is associated with rapid disease progression.
Genome Med
; 12(1): 72, 2020 08 17.
Article
in English
| MEDLINE | ID: mdl-32807235
18.
Base resolution maps reveal the importance of 5-hydroxymethylcytosine in a human glioblastoma.
NPJ Genom Med
; 2: 6, 2017.
Article
in English
| MEDLINE | ID: mdl-29263824
19.
Whole-genome sequencing provides new insights into the clonal architecture of Barrett's esophagus and esophageal adenocarcinoma.
Nat Genet
; 47(9): 1038-1046, 2015 Sep.
Article
in English
| MEDLINE | ID: mdl-26192915
20.
Microbial Metabolism Shifts Towards an Adverse Profile with Supplementary Iron in the TIM-2 In vitro Model of the Human Colon.
Front Microbiol
; 6: 1481, 2015.
Article
in English
| MEDLINE | ID: mdl-26779139