Detalhe da pesquisa
1.
Sequence variants associating with urinary biomarkers.
Hum Mol Genet
; 28(7): 1199-1211, 2019 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30476138
2.
A rare IL33 loss-of-function mutation reduces blood eosinophil counts and protects from asthma.
PLoS Genet
; 13(3): e1006659, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28273074
3.
A rare splice donor mutation in the haptoglobin gene associates with blood lipid levels and coronary artery disease.
Hum Mol Genet
; 26(12): 2364-2376, 2017 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28398513
4.
Identification of Common Genetic Variants Influencing Spontaneous Dizygotic Twinning and Female Fertility.
Am J Hum Genet
; 98(5): 898-908, 2016 May 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27132594
5.
Variant ASGR1 Associated with a Reduced Risk of Coronary Artery Disease.
N Engl J Med
; 374(22): 2131-41, 2016 Jun 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27192541
6.
Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits.
Nature
; 497(7450): 517-20, 2013 May 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-23644456
7.
Rare SCARB1 mutations associate with high-density lipoprotein cholesterol but not with coronary artery disease.
Eur Heart J
; 39(23): 2172-2178, 2018 06 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-29596577
8.
A Splice Region Variant in LDLR Lowers Non-high Density Lipoprotein Cholesterol and Protects against Coronary Artery Disease.
PLoS Genet
; 11(9): e1005379, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26327206
9.
Rare mutations associating with serum creatinine and chronic kidney disease.
Hum Mol Genet
; 23(25): 6935-43, 2014 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-25082825
10.
Genetic architecture of vitamin B12 and folate levels uncovered applying deeply sequenced large datasets.
PLoS Genet
; 9(6): e1003530, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23754956
11.
Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases.
PLoS Genet
; 6(7): e1001039, 2010 Jul 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-20686651
12.
Genome-wide meta-analysis for serum calcium identifies significantly associated SNPs near the calcium-sensing receptor (CASR) gene.
PLoS Genet
; 6(7): e1001035, 2010 Jul 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-20661308
13.
Lifelong Reduction in LDL (Low-Density Lipoprotein) Cholesterol due to a Gain-of-Function Mutation in LDLR.
Circ Genom Precis Med
; 14(1): e003029, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33315477
14.
Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits.
Nat Genet
; 53(6): 779-786, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33972781
15.
Association of Genetically Predicted Lipid Levels With the Extent of Coronary Atherosclerosis in Icelandic Adults.
JAMA Cardiol
; 5(1): 13-20, 2020 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31746962
16.
Eighty-eight variants highlight the role of T cell regulation and airway remodeling in asthma pathogenesis.
Nat Commun
; 11(1): 393, 2020 01 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-31959851
17.
Common and Rare Sequence Variants Influencing Tumor Biomarkers in Blood.
Cancer Epidemiol Biomarkers Prev
; 29(1): 225-235, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31666285
18.
Lipoprotein(a) Concentration and Risks of Cardiovascular Disease and Diabetes.
J Am Coll Cardiol
; 74(24): 2982-2994, 2019 12 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-31865966
19.
A loss-of-function variant in ALOX15 protects against nasal polyps and chronic rhinosinusitis.
Nat Genet
; 51(2): 267-276, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30643255
20.
Genome-wide association meta-analysis yields 20 loci associated with gallstone disease.
Nat Commun
; 9(1): 5101, 2018 11 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-30504769