Detalhe da pesquisa
1.
Spatial profiling of gastric cancer patient-matched primary and locoregional metastases reveals principles of tumour dissemination.
Gut
; 70(10): 1823-1832, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-33229445
2.
Single-nucleotide-resolution sequencing of human N6-methyldeoxyadenosine reveals strand-asymmetric clusters associated with SSBP1 on the mitochondrial genome.
Nucleic Acids Res
; 46(22): 11659-11670, 2018 12 14.
Artigo
Inglês
| MEDLINE | ID: mdl-30412255
3.
Breast cancer in women with neurofibromatosis type 1 (NF1): a comprehensive case series with molecular insights into its aggressive phenotype.
Breast Cancer Res Treat
; 171(3): 719-735, 2018 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-29926297
4.
Exome sequencing as a tool for Mendelian disease gene discovery.
Nat Rev Genet
; 12(11): 745-55, 2011 Sep 27.
Artigo
Inglês
| MEDLINE | ID: mdl-21946919
5.
Targeted capture and massively parallel sequencing of 12 human exomes.
Nature
; 461(7261): 272-6, 2009 Sep 10.
Artigo
Inglês
| MEDLINE | ID: mdl-19684571
6.
Trans genomic capture and sequencing of primate exomes reveals new targets of positive selection.
Genome Res
; 21(10): 1686-94, 2011 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-21795384
7.
Exome sequencing identifies a spectrum of mutation frequencies in advanced and lethal prostate cancers.
Proc Natl Acad Sci U S A
; 108(41): 17087-92, 2011 Oct 11.
Artigo
Inglês
| MEDLINE | ID: mdl-21949389
8.
Massively parallel sequencing and rare disease.
Hum Mol Genet
; 19(R2): R119-24, 2010 Oct 15.
Artigo
Inglês
| MEDLINE | ID: mdl-20846941
9.
Methods for genomic partitioning.
Annu Rev Genomics Hum Genet
; 10: 263-84, 2009.
Artigo
Inglês
| MEDLINE | ID: mdl-19630561
10.
A genome-wide association study identifies novel and functionally related susceptibility Loci for Kawasaki disease.
PLoS Genet
; 5(1): e1000319, 2009 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-19132087
11.
Heat selection enables highly scalable methylome profiling in cell-free DNA for noninvasive monitoring of cancer patients.
Sci Adv
; 8(36): eabn4030, 2022 09 09.
Artigo
Inglês
| MEDLINE | ID: mdl-36083902
12.
Exome-wide DNA capture and next generation sequencing in domestic and wild species.
BMC Genomics
; 12: 347, 2011 Jul 05.
Artigo
Inglês
| MEDLINE | ID: mdl-21729323
13.
Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.
Am J Med Genet A
; 155A(7): 1511-6, 2011 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-21671394
14.
Identification of differential RNA modifications from nanopore direct RNA sequencing with xPore.
Nat Biotechnol
; 39(11): 1394-1402, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34282325
15.
Determination of isoform-specific RNA structure with nanopore long reads.
Nat Biotechnol
; 39(3): 336-346, 2021 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33106685
16.
Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical Management.
Arch Dis Child
; 106(1): 31-37, 2021 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32819910
17.
Detection of genomic alterations in breast cancer with circulating tumour DNA sequencing.
Sci Rep
; 10(1): 16774, 2020 10 08.
Artigo
Inglês
| MEDLINE | ID: mdl-33033274
18.
cis- and trans-Acting determinants of transcription termination by yeast RNA polymerase II.
Mol Cell Biol
; 26(7): 2688-96, 2006 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-16537912
19.
Single-nucleotide evolutionary constraint scores highlight disease-causing mutations.
Nat Methods
; 7(4): 250-1, 2010 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-20354513
20.
Massively parallel exon capture and library-free resequencing across 16 genomes.
Nat Methods
; 6(5): 315-6, 2009 May.
Artigo
Inglês
| MEDLINE | ID: mdl-19349981