Detalhe da pesquisa
1.
Characterizing the Major Structural Variant Alleles of the Human Genome.
Cell
; 176(3): 663-675.e19, 2019 01 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-30661756
2.
CpG Island Hypermethylation Mediated by DNMT3A Is a Consequence of AML Progression.
Cell
; 168(5): 801-816.e13, 2017 02 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28215704
3.
Sequencing the mouse Y chromosome reveals convergent gene acquisition and amplification on both sex chromosomes.
Cell
; 159(4): 800-13, 2014 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-25417157
4.
The next-generation sequencing revolution and its impact on genomics.
Cell
; 155(1): 27-38, 2013 Sep 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-24074859
5.
Chromothripsis and human disease: piecing together the shattering process.
Cell
; 148(1-2): 29-32, 2012 Jan 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-22265399
6.
Genomic landscape of non-small cell lung cancer in smokers and never-smokers.
Cell
; 150(6): 1121-34, 2012 Sep 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-22980976
7.
Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication.
Cell
; 149(4): 912-22, 2012 May 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-22559943
8.
Author Correction: Elephant shark genome provides unique insights into gnathostome evolution.
Nature
; 588(7837): E15, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33214712
9.
A human genome structural variation sequencing resource reveals insights into mutational mechanisms.
Cell
; 143(5): 837-47, 2010 Nov 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-21111241
10.
Author Correction: Exome sequencing of Finnish isolates enhances rare-variant association power.
Nature
; 575(7783): E4, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31686056
11.
Exome sequencing of Finnish isolates enhances rare-variant association power.
Nature
; 572(7769): 323-328, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31367044
12.
Full-length isoform concatenation sequencing to resolve cancer transcriptome complexity.
BMC Genomics
; 25(1): 122, 2024 Jan 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38287261
13.
Cerebral organoids containing an AUTS2 missense variant model microcephaly.
Brain
; 146(1): 387-404, 2023 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35802027
14.
Infantile metastatic ependymoma with a novel molecular profile and favorable outcome to intensive chemotherapy without irradiation: Case-based review.
Genes Chromosomes Cancer
; 62(1): 39-46, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35716171
15.
Sequence analysis in Bos taurus reveals pervasiveness of X-Y arms races in mammalian lineages.
Genome Res
; 30(12): 1716-1726, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33208454
16.
A novel sialic acid-binding adhesin present in multiple species contributes to the pathogenesis of Infective endocarditis.
PLoS Pathog
; 17(1): e1009222, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33465168
17.
Orthotopic patient-derived xenografts of paediatric solid tumours.
Nature
; 549(7670): 96-100, 2017 09 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28854174
18.
Long-read whole genome sequencing reveals HOXD13 alterations in synpolydactyly.
Hum Mutat
; 43(2): 189-199, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34859533
19.
Long-read sequence and assembly of segmental duplications.
Nat Methods
; 16(1): 88-94, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30559433
20.
Case report and review of the literature: immune dysregulation in a large familial cohort due to a novel pathogenic RELA variant.
Rheumatology (Oxford)
; 62(1): 347-359, 2022 12 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35412596