Detalhe da pesquisa
1.
Whole genome sequencing of 4,787 individuals identifies gene-based rare variants in age-related macular degeneration.
Hum Mol Genet
; 33(4): 374-385, 2024 Feb 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37934784
2.
Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls.
Nature
; 570(7759): 71-76, 2019 06.
Artigo
Inglês
| MEDLINE | ID: mdl-31118516
3.
The genetic architecture of type 2 diabetes.
Nature
; 536(7614): 41-47, 2016 08 04.
Artigo
Inglês
| MEDLINE | ID: mdl-27398621
4.
Profiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 Exomes.
Am J Hum Genet
; 102(5): 874-889, 2018 05 03.
Artigo
Inglês
| MEDLINE | ID: mdl-29727688
5.
Genome-wide Study of Atrial Fibrillation Identifies Seven Risk Loci and Highlights Biological Pathways and Regulatory Elements Involved in Cardiac Development.
Am J Hum Genet
; 102(1): 103-115, 2018 01 04.
Artigo
Inglês
| MEDLINE | ID: mdl-29290336
6.
A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease.
N Engl J Med
; 378(12): 1096-1106, 2018 03 22.
Artigo
Inglês
| MEDLINE | ID: mdl-29562163
7.
Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees.
Proc Natl Acad Sci U S A
; 115(2): 379-384, 2018 01 09.
Artigo
Inglês
| MEDLINE | ID: mdl-29279374
8.
Identification of seven novel loci associated with amino acid levels using single-variant and gene-based tests in 8545 Finnish men from the METSIM study.
Hum Mol Genet
; 27(9): 1664-1674, 2018 05 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29481666
9.
Common, low-frequency, and rare genetic variants associated with lipoprotein subclasses and triglyceride measures in Finnish men from the METSIM study.
PLoS Genet
; 13(10): e1007079, 2017 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-29084231
10.
Protein-Truncating Variants at the Cholesteryl Ester Transfer Protein Gene and Risk for Coronary Heart Disease.
Circ Res
; 121(1): 81-88, 2017 Jun 23.
Artigo
Inglês
| MEDLINE | ID: mdl-28506971
11.
Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.
PLoS Genet
; 12(6): e1006166, 2016 06.
Artigo
Inglês
| MEDLINE | ID: mdl-27355579
12.
Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus.
PLoS Genet
; 11(1): e1004876, 2015 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-25625282
13.
The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.
PLoS Genet
; 11(10): e1005378, 2015 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-26426971
14.
Re-sequencing expands our understanding of the phenotypic impact of variants at GWAS loci.
PLoS Genet
; 10(1): e1004147, 2014 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-24497850
15.
General framework for meta-analysis of rare variants in sequencing association studies.
Am J Hum Genet
; 93(1): 42-53, 2013 Jul 11.
Artigo
Inglês
| MEDLINE | ID: mdl-23768515
16.
Biological, clinical and population relevance of 95 loci for blood lipids.
Nature
; 466(7307): 707-13, 2010 Aug 05.
Artigo
Inglês
| MEDLINE | ID: mdl-20686565
17.
The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits.
PLoS Genet
; 8(8): e1002793, 2012.
Artigo
Inglês
| MEDLINE | ID: mdl-22876189
18.
ANGPTL7, a therapeutic target for increased intraocular pressure and glaucoma.
Commun Biol
; 5(1): 1051, 2022 10 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36192519
19.
A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism.
Am J Hum Genet
; 82(1): 160-4, 2008 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-18179894
20.
LocusZoom: regional visualization of genome-wide association scan results.
Bioinformatics
; 26(18): 2336-7, 2010 Sep 15.
Artigo
Inglês
| MEDLINE | ID: mdl-20634204