Detalhe da pesquisa
1.
GCAT|Panel, a comprehensive structural variant haplotype map of the Iberian population from high-coverage whole-genome sequencing.
Nucleic Acids Res
; 50(5): 2464-2479, 2022 03 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35176773
2.
Polymorphic Inversions Underlie the Shared Genetic Susceptibility of Obesity-Related Diseases.
Am J Hum Genet
; 106(6): 846-858, 2020 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32470372
3.
Genomic and epigenomic insights into the origin, pathogenesis, and clinical behavior of mantle cell lymphoma subtypes.
Blood
; 136(12): 1419-1432, 2020 09 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-32584970
4.
CCND2 and CCND3 hijack immunoglobulin light-chain enhancers in cyclin D1- mantle cell lymphoma.
Blood
; 133(9): 940-951, 2019 02 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-30538135
5.
A cancer-associated polymorphism in ESCRT-III disrupts the abscission checkpoint and promotes genome instability.
Proc Natl Acad Sci U S A
; 115(38): E8900-E8908, 2018 09 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-30181294
6.
Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort.
J Med Genet
; 55(11): 765-778, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30166351
7.
A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases.
Kidney Int
; 94(2): 363-371, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29801666
8.
Enterotypes of the human gut microbiome.
Nature
; 473(7346): 174-80, 2011 May 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-21508958
9.
Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia.
Nature
; 475(7354): 101-5, 2011 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-21642962
10.
Unravelling the hidden DNA structural/physical code provides novel insights on promoter location.
Nucleic Acids Res
; 41(15): 7220-30, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23761436
11.
Identification of novel type 2 diabetes candidate genes involved in the crosstalk between the mitochondrial and the insulin signaling systems.
PLoS Genet
; 8(12): e1003046, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23236286
12.
Adaptation to environmental factors shapes the organization of regulatory regions in microbial communities.
BMC Genomics
; 15: 877, 2014 Oct 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-25294412
13.
Germline NPAT inactivating variants as cause of hereditary colorectal cancer.
Eur J Hum Genet
; 2024 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38778081
14.
ReLA, a local alignment search tool for the identification of distal and proximal gene regulatory regions and their conserved transcription factor binding sites.
Bioinformatics
; 28(6): 763-70, 2012 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22253291
15.
Exhaustive Variant Interaction Analysis using Multifactor Dimensionality Reduction.
Res Sq
; 2023 Oct 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37886566
16.
Mutational topography reflects clinical neuroblastoma heterogeneity.
Cell Genom
; 3(10): 100402, 2023 Oct 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37868040
17.
A transposase-derived gene required for human brain development.
bioRxiv
; 2023 May 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37163102
18.
Impact of methylation on the physical properties of DNA.
Biophys J
; 102(9): 2140-8, 2012 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-22824278
19.
Clustering and graph mining techniques for classification of complex structural variations in cancer genomes.
Sci Rep
; 12(1): 3244, 2022 02 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35228601
20.
Sequence diversity of the uniparentally transmitted portions of the genome in the resident population of Catalonia.
Forensic Sci Int Genet
; 61: 102783, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36240588