Detalhe da pesquisa
1.
Domains of genome-wide gene expression dysregulation in Down's syndrome.
Nature
; 508(7496): 345-50, 2014 Apr 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-24740065
2.
Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing.
PLoS Genet
; 11(1): e1004958, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25634236
3.
Corrigendum: Domains of genome-wide gene expression dysregulation in Down's syndrome.
Nature
; 531(7594): 400, 2016 Mar 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-26633627
4.
Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts.
Genome Res
; 21(1): 68-73, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21147911
5.
Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele.
J Med Genet
; 49(4): 270-6, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22499347
6.
Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature.
Am J Med Genet B Neuropsychiatr Genet
; 162B(4): 388-403, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23533028
7.
Tandem repeat sequence variation as causative cis-eQTLs for protein-coding gene expression variation: the case of CSTB.
Hum Mutat
; 33(8): 1302-9, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22573514
8.
Mapping of small RNAs in the human ENCODE regions.
Am J Hum Genet
; 82(4): 971-81, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18394580
9.
Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: a complex series of events.
Am J Med Genet A
; 146A(16): 2086-93, 2008 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18627064
10.
Cardiomyogenesis is controlled by the miR-99a/let-7c cluster and epigenetic modifications.
Stem Cell Res
; 12(2): 323-37, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24365598
11.
Passive and active DNA methylation and the interplay with genetic variation in gene regulation.
Elife
; 2: e00523, 2013 Jun 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-23755361
12.
Extensive natural variation for cellular hydrogen peroxide release is genetically controlled.
PLoS One
; 7(8): e43566, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22952707
13.
Genetic structure of Europeans: a view from the North-East.
PLoS One
; 4(5): e5472, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19424496
14.
Human microRNA-155 on chromosome 21 differentially interacts with its polymorphic target in the AGTR1 3' untranslated region: a mechanism for functional single-nucleotide polymorphisms related to phenotypes.
Am J Hum Genet
; 81(2): 405-13, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17668390
15.
Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance.
Am J Hum Genet
; 81(2): 252-63, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17668376
16.
Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes.
Hum Mol Genet
; 14(23): 3741-9, 2005 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-16251198