Detalhe da pesquisa
1.
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.
Hum Mutat
; 43(6): 717-733, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35178824
2.
WEScover: selection between clinical whole exome sequencing and gene panel testing.
BMC Bioinformatics
; 22(1): 259, 2021 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-34016036
3.
Variability of multi-omics profiles in a population-based child cohort.
BMC Med
; 19(1): 166, 2021 07 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34289836
4.
The Clinical Genome and Ancestry Report: An interactive web application for prioritizing clinically implicated variants from genome sequencing data with ancestry composition.
Hum Mutat
; 41(2): 387-396, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31691385
5.
In utero and childhood exposure to tobacco smoke and multi-layer molecular signatures in children.
BMC Med
; 18(1): 243, 2020 08 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-32811491
6.
Comprehensive study of the exposome and omic data using rexposome Bioconductor Packages.
Bioinformatics
; 35(24): 5344-5345, 2019 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31243429
7.
CTDquerier: a bioconductor R package for Comparative Toxicogenomics DatabaseTM data extraction, visualization and enrichment of environmental and toxicological studies.
Bioinformatics
; 34(18): 3235-3237, 2018 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29688259
8.
psygenet2r: a R/Bioconductor package for the analysis of psychiatric disease genes.
Bioinformatics
; 33(24): 4004-4006, 2017 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28961763
9.
MultiDataSet: an R package for encapsulating multiple data sets with application to omic data integration.
BMC Bioinformatics
; 18(1): 36, 2017 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-28095799
10.
The acute effects of ultraviolet radiation on the blood transcriptome are independent of plasma 25OHD3.
Environ Res
; 159: 239-248, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28822308
11.
affy2sv: an R package to pre-process Affymetrix CytoScan HD and 750K arrays for SNP, CNV, inversion and mosaicism calling.
BMC Bioinformatics
; 16: 167, 2015 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-25991004
12.
The Pregnancy Exposome: Multiple Environmental Exposures in the INMA-Sabadell Birth Cohort.
Environ Sci Technol
; 49(17): 10632-41, 2015 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26168307
13.
Patterns of Heterochromatin Transitions Linked to Changes in the Expression of Plasmodium falciparum Clonally Variant Genes.
Microbiol Spectr
; 11(1): e0304922, 2023 02 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36515553
14.
Epimutation detection in the clinical context: guidelines and a use case from a new Bioconductor package.
Epigenetics
; 18(1): 2230670, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37409354
15.
Identification of autosomal cis expression quantitative trait methylation (cis eQTMs) in children's blood.
Elife
; 112022 03 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-35302492
16.
Multi-omics signatures of the human early life exposome.
Nat Commun
; 13(1): 7024, 2022 11 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36411288
17.
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.
Eur J Hum Genet
; 29(9): 1337-1347, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34075210
18.
The early-life exposome and epigenetic age acceleration in children.
Environ Int
; 155: 106683, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34144479
19.
Early life multiple exposures and child cognitive function: A multi-centric birth cohort study in six European countries.
Environ Pollut
; 284: 117404, 2021 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34077897
20.
Early-life environmental exposure determinants of child behavior in Europe: A longitudinal, population-based study.
Environ Int
; 153: 106523, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33773142