Detalhe da pesquisa
1.
A global metagenomic map of urban microbiomes and antimicrobial resistance.
Cell
; 184(13): 3376-3393.e17, 2021 06 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34043940
2.
Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions.
Cell
; 161(5): 1012-1025, 2015 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-25959774
3.
In vitro and in vivo evidence that the switch from calcineurin to mTOR inhibitors may be a strategy for immunosuppression in Epstein-Barr virus-associated post-transplant lymphoproliferative disorder.
Kidney Int
; 102(6): 1392-1408, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36103953
4.
Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features.
Genet Med
; 24(9): 1927-1940, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35670808
5.
SARS-CoV-2 Seroprevalence and Antibody Kinetics Among Health Care Workers in a Spanish Hospital After 3 Months of Follow-up.
J Infect Dis
; 223(1): 62-71, 2021 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33175145
6.
Genome-wide strategies identify downstream target genes of chick connective tissue-associated transcription factors.
Development
; 145(7)2018 03 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-29511024
7.
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.
Am J Hum Genet
; 101(5): 833-843, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100093
8.
Genome-Wide Binding of Posterior HOXA/D Transcription Factors Reveals Subgrouping and Association with CTCF.
PLoS Genet
; 13(1): e1006567, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28103242
9.
GOPHER: Generator Of Probes for capture Hi-C Experiments at high Resolution.
BMC Genomics
; 20(1): 40, 2019 Jan 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-30642251
10.
Saturation analysis of ChIP-seq data for reproducible identification of binding peaks.
Genome Res
; 25(9): 1391-400, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26163319
11.
Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model.
Hum Mol Genet
; 24(11): 3119-32, 2015 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25712132
12.
Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.
Am J Hum Genet
; 94(2): 278-87, 2014 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24439110
13.
Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.
Am J Hum Genet
; 95(6): 763-70, 2014 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25480037
14.
The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies.
BMC Cancer
; 17(1): 239, 2017 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28376765
15.
Q-nexus: a comprehensive and efficient analysis pipeline designed for ChIP-nexus.
BMC Genomics
; 17(1): 873, 2016 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27814676
16.
PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome.
Am J Hum Genet
; 92(4): 584-9, 2013 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-23561847
17.
Mutations in WNT1 cause different forms of bone fragility.
Am J Hum Genet
; 92(4): 565-74, 2013 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-23499309
18.
Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutations.
Genome Res
; 23(12): 2091-102, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23995701
19.
Efficient CRISPR/Cas9 genome editing with low off-target effects in zebrafish.
Development
; 140(24): 4982-7, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24257628
20.
Strategies to improve the performance of rare variant association studies by optimizing the selection of controls.
Bioinformatics
; 31(22): 3577-83, 2015 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26249812