Detalhe da pesquisa
1.
Species-dependent posttranscriptional regulation of NOS1 by FMRP in the developing cerebral cortex.
Cell
; 149(4): 899-911, 2012 May 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-22579290
2.
New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics.
Hum Mol Genet
; 26(2): 438-453, 2017 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28073927
3.
Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.
Genet Epidemiol
; 39(3): 207-16, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25631615
4.
Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption.
Mol Psychiatry
; 20(5): 647-656, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25288136
5.
An exome study of Parkinson's disease in Sardinia, a Mediterranean genetic isolate.
Neurogenetics
; 16(1): 55-64, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25294124
6.
Genetic influences on plasma CFH and CFHR1 concentrations and their role in susceptibility to age-related macular degeneration.
Hum Mol Genet
; 22(23): 4857-69, 2013 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23873044
7.
Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error.
Hum Mol Genet
; 22(13): 2754-64, 2013 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23474815
8.
Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course.
Hum Mol Genet
; 22(17): 3597-607, 2013 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23669352
9.
Heritabilities, proportions of heritabilities explained by GWAS findings, and implications of cross-phenotype effects on PR interval.
Hum Genet
; 134(11-12): 1211-9, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26385552
10.
Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.
Hum Genet
; 134(2): 131-46, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25367360
11.
Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease.
Am J Hum Genet
; 90(3): 467-77, 2012 Mar 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-22341971
12.
Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
PLoS Genet
; 8(2): e1002490, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22359512
13.
Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.
PLoS Genet
; 8(3): e1002607, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22479202
14.
Common genetic determinants of intraocular pressure and primary open-angle glaucoma.
PLoS Genet
; 8(5): e1002611, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22570627
15.
Common DNA variants predict tall stature in Europeans.
Hum Genet
; 133(5): 587-97, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24253421
16.
Telomere length in circulating leukocytes is associated with lung function and disease.
Eur Respir J
; 43(4): 983-92, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24311771
17.
A metabolomic profile is associated with the risk of incident coronary heart disease.
Am Heart J
; 168(1): 45-52.e7, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24952859
18.
NPHP4 variants are associated with pleiotropic heart malformations.
Circ Res
; 110(12): 1564-74, 2012 Jun 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-22550138
19.
Risk scores of common genetic variants for lipid levels influence atherosclerosis and incident coronary heart disease.
Arterioscler Thromb Vasc Biol
; 33(9): 2233-9, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23766260
20.
The IL-7Rα pathway is quantitatively and functionally altered in CD8 T cells in multiple sclerosis.
J Immunol
; 188(4): 1874-83, 2012 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22262655