User profiles for "author:Hafdis Helgadottir"

Hafdis Helgadottir

Karolinska Institutet
Verified email at ki.se
Cited by 7242

A meta-analysis of genome-wide association studies identifies novel variants associated with osteoarthritis of the hip

E Evangelou, HJ Kerkhof, U Styrkarsdottir… - Annals of the …, 2014 - ard.bmj.com
Objectives Osteoarthritis (OA) is the most common form of arthritis with a clear genetic
component. To identify novel loci associated with hip OA we performed a meta-analysis of …

Large-scale whole-genome sequencing of the Icelandic population

DF Gudbjartsson, H Helgason, SA Gudjonsson, F Zink… - Nature …, 2015 - nature.com
Here we describe the insights gained from sequencing the whole genomes of 2,636
Icelanders to a median depth of 20×. We found 20 million SNPs and 1.5 million insertions …

Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction

DF Gudbjartsson, US Bjornsdottir, E Halapi… - Nature …, 2009 - nature.com
Eosinophils are pleiotropic multifunctional leukocytes involved in initiation and propagation
of inflammatory responses and thus have important roles in the pathogenesis of …

Sequence variants at the TERT-CLPTM1L locus associate with many cancer types

T Rafnar, P Sulem, SN Stacey, F Geller… - Nature …, 2009 - nature.com
The common sequence variants that have recently been associated with cancer risk are
particular to a single cancer type or at most two. Following up on our genome-wide scan of …

Mutations in BRIP1 confer high risk of ovarian cancer

T Rafnar, DF Gudbjartsson, P Sulem, A Jonasdottir… - Nature …, 2011 - nature.com
Ovarian cancer causes more deaths than any other gynecologic malignancy in developed
countries. Sixteen million sequence variants, identified through whole-genome sequencing …

Common variants on 9q22. 33 and 14q13. 3 predispose to thyroid cancer in European populations

J Gudmundsson, P Sulem, DF Gudbjartsson… - Nature …, 2009 - nature.com
In order to search for sequence variants conferring risk of thyroid cancer we conducted a
genome-wide association study in 192 and 37,196 Icelandic cases and controls …

A rare variant in MYH6 is associated with high risk of sick sinus syndrome

H Holm, DF Gudbjartsson, P Sulem, G Masson… - Nature …, 2011 - nature.com
Through complementary application of SNP genotyping, whole-genome sequencing and
imputation in 38,384 Icelanders, we have discovered a previously unidentified sick sinus …

Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes

V Steinthorsdottir, G Thorleifsson, P Sulem… - Nature …, 2014 - nature.com
Through whole-genome sequencing of 2,630 Icelanders and imputation into 11,114
Icelandic cases and 267,140 controls followed by testing in Danish and Iranian samples, we …

A germline variant in the TP53 polyadenylation signal confers cancer susceptibility

SN Stacey, P Sulem, A Jonasdottir, G Masson… - Nature …, 2011 - nature.com
To identify new risk variants for cutaneous basal cell carcinoma, we performed a genome-
wide association study of 16 million SNPs identified through whole-genome sequencing of …

Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits

U Styrkarsdottir, G Thorleifsson, P Sulem… - Nature, 2013 - nature.com
Low bone mineral density (BMD) is used as a parameter of osteoporosis. Genome-wide
association studies of BMD have hitherto focused on BMD as a quantitative trait, yielding …