Detalhe da pesquisa
1.
Mapping and characterization of structural variation in 17,795 human genomes.
Nature
; 583(7814): 83-89, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32460305
2.
Integrating transcriptomics, metabolomics, and GWAS helps reveal molecular mechanisms for metabolite levels and disease risk.
Am J Hum Genet
; 109(10): 1727-1741, 2022 10 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36055244
3.
Author Correction: Exome sequencing of Finnish isolates enhances rare-variant association power.
Nature
; 575(7783): E4, 2019 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-31686056
4.
Exome sequencing of Finnish isolates enhances rare-variant association power.
Nature
; 572(7769): 323-328, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-31367044
5.
ANGPTL3 deficiency impairs lipoprotein production and produces adaptive changes in hepatic lipid metabolism.
J Lipid Res
; 65(2): 100500, 2024 02.
Artigo
Inglês
| MEDLINE | ID: mdl-38219820
6.
ANGPTL3 Deficiency and Risk of Hepatic Steatosis.
Circulation
; 148(19): 1479-1489, 2023 11 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37712257
7.
Association of structural variation with cardiometabolic traits in Finns.
Am J Hum Genet
; 108(4): 583-596, 2021 04 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33798444
8.
Functional assays reveal the pathogenic mechanism of a de novo tropomyosin variant identified in patient with dilated cardiomyopathy.
J Mol Cell Cardiol
; 176: 58-67, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36739943
9.
Non-parametric Polygenic Risk Prediction via Partitioned GWAS Summary Statistics.
Am J Hum Genet
; 107(1): 46-59, 2020 07 02.
Artigo
Inglês
| MEDLINE | ID: mdl-32470373
10.
Low LDL Cholesterol Is Not an Independent Risk Factor for Hepatic Steatosis.
Dig Dis Sci
; 68(8): 3451-3457, 2023 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37291473
11.
Mitochondrial genome copy number measured by DNA sequencing in human blood is strongly associated with metabolic traits via cell-type composition differences.
Hum Genomics
; 15(1): 34, 2021 06 07.
Artigo
Inglês
| MEDLINE | ID: mdl-34099068
12.
Capitalizing on Insights from Human Genetics to Identify Novel Therapeutic Targets for Coronary Artery Disease.
Annu Rev Med
; 70: 19-32, 2019 01 27.
Artigo
Inglês
| MEDLINE | ID: mdl-30355262
13.
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.
Nature
; 518(7537): 102-6, 2015 Feb 05.
Artigo
Inglês
| MEDLINE | ID: mdl-25487149
14.
Functional Characterization of LIPA (Lysosomal Acid Lipase) Variants Associated With Coronary Artery Disease.
Arterioscler Thromb Vasc Biol
; 39(12): 2480-2491, 2019 12.
Artigo
Inglês
| MEDLINE | ID: mdl-31645127
15.
Phenotypic Consequences of a Genetic Predisposition to Enhanced Nitric Oxide Signaling.
Circulation
; 137(3): 222-232, 2018 01 16.
Artigo
Inglês
| MEDLINE | ID: mdl-28982690
16.
Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease.
N Engl J Med
; 374(12): 1134-44, 2016 03 24.
Artigo
Inglês
| MEDLINE | ID: mdl-26934567
17.
Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans.
Proc Natl Acad Sci U S A
; 113(31): 8759-64, 2016 08 02.
Artigo
Inglês
| MEDLINE | ID: mdl-27432961
18.
Polygenic Risk Score Identifies Subgroup With Higher Burden of Atherosclerosis and Greater Relative Benefit From Statin Therapy in the Primary Prevention Setting.
Circulation
; 135(22): 2091-2101, 2017 May 30.
Artigo
Inglês
| MEDLINE | ID: mdl-28223407
19.
Human genetic insights into lipoproteins and risk of cardiometabolic disease.
Curr Opin Lipidol
; 28(2): 113-119, 2017 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-28059951
20.
Association of exome sequences with plasma C-reactive protein levels in >9000 participants.
Hum Mol Genet
; 24(2): 559-71, 2015 Jan 15.
Artigo
Inglês
| MEDLINE | ID: mdl-25187575