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List of works by Thorunn Rafnar

A Genome-wide Association Study of Lung Cancer Identifies a Region of Chromosome 5p15 Associated with Risk for Adenocarcinoma

scientific article published on 10 June 2011

A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy

scientific article published on 16 April 2019

A Splice Region Variant in LDLR Lowers Non-high Density Lipoprotein Cholesterol and Protects against Coronary Artery Disease

scientific article published on September 2015

A common variant at 8q24.21 is associated with renal cell cancer.

scientific article

A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24.

scientific article published on 19 September 2010

A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma

scientific article

A genome-wide association study yields five novel thyroid cancer risk loci

scientific article published on 14 February 2017

A germline variant in the TP53 polyadenylation signal confers cancer susceptibility

scientific article published on 25 September 2011

A loss-of-function variant in ALOX15 protects against nasal polyps and chronic rhinosinusitis

scientific article published on 14 January 2019

A method for detecting long non-coding RNAs with tiled RNA expression microarrays

scientific article

A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci

scientific journal article

A rare missense variant in associates with lower cholesterol levels

article published in 2018

A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration

article by Hannes Helgason et al published 15 September 2013 in Nature Genetics

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

scientific article

A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer

scientific article

A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer

scientific article published on 28 October 2012

ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma

scientific article

Abstract 889: An analysis of single nucleotide polymorphisms of 125 DNA repair genes in the Texas genome-wide association study of lung cancer with a replication for theXRCC4SNPs

article

Abstract 942: Imputation from The 1000 Genomes Project identifies rare large effect variants of BRCA2-K3326X and CHEK2-I157T as risk factors for lung cancer; a study from the TRICL consortium

article published in 2014

An analysis of single nucleotide polymorphisms of 125 DNA repair genes in the Texas genome-wide association study of lung cancer with a replication for the XRCC4 SNPs

scientific article

Ancestry-shift refinement mapping of the C6orf97-ESR1 breast cancer susceptibility locus

scientific article

Association of a novel functional promoter variant (rs2075533 C>T) in the apoptosis gene TNFSF8 with risk of lung cancer--a finding from Texas lung cancer genome-wide association study

scientific article

Association of folate-pathway gene polymorphisms with the risk of prostate cancer: a population-based nested case-control study, systematic review, and meta-analysis

scientific article published on 25 August 2009

Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases

scientific journal article

Author Correction: Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma

scientific article published in Nature Communications

CDKN2A mutations and melanoma risk in the Icelandic population

scientific article published on 4 January 2008

Clonal hematopoiesis, with and without candidate driver mutations, is common in the elderly

scientific article

Common and Rare Sequence Variants Influencing Tumor Biomarkers in Blood

scientific article published on 30 October 2019

Common sequence variants on 2p15 and Xp11.22 confer susceptibility to prostate cancer

scientific journal article

Common variants at 19p13 are associated with susceptibility to ovarian cancer

scientific article

Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits

scientific article published on 12 October 2008

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

scientific article published on 6 February 2009

Common variants on chromosome 5p12 confer susceptibility to estrogen receptor–positive breast cancer

Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer

scientific article

Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2.

scientific article

Correction: Association of Variants at UMOD with Chronic Kidney Disease and Kidney Stones—Role of Age and Comorbid Diseases.

scientific article published on 2 November 2010

Corrigendum: Whole-genome sequencing identifies rare genotypes in COMP and CHADL associated with high risk of hip osteoarthritis.

scientific article published in July 2017

Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations

scientific article

Detection of sharing by descent, long-range phasing and haplotype imputation

scientific article

Discovery of common variants associated with low TSH levels and thyroid cancer risk

scientific journal article

Epigenetic and genetic components of height regulation

scientific article

Erratum: Corrigendum: ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma

scholarly article published in Nature Genetics

Erratum: Corrigendum: Common variants at 19p13 are associated with susceptibility to ovarian cancer

scholarly article published in Nature Genetics

Erratum: Corrigendum: Genetic variation in the prostate stem cell antigen gene PSCA confers susceptibility to urinary bladder cancer

article

Erratum: Corrigendum: Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer

scholarly article published in Nature Genetics

European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene

scientific article

Evaluation of association of HNF1B variants with diverse cancers: collaborative analysis of data from 19 genome-wide association studies

scientific article

FLT3 stop mutation increases FLT3 ligand level and risk of autoimmune thyroid disease

scientific article published on 24 June 2020

Flt3/Flk-2 ligand in combination with thrombopoietin decreases apoptosis in megakaryocyte development

scientific article published in April 2004

Flt3/Flk-2-ligand in synergy with thrombopoietin delays megakaryocyte development and increases the numbers of megakaryocyte progenitor cells in serum-free cultures initiated with CD34+ cells

scientific article (publication date: April 2002)

Fourteen sequence variants that associate with multiple sclerosis discovered by meta-analysis informed by genetic correlations

scientific article published on 8 August 2017

GPC5 rs2352028 variant and risk of lung cancer in never smokers

scientific article published in August 2010

Gene expression analysis of hematopoietic progenitor cells identifies Dlg7 as a potential stem cell gene

scientific article

Genetic correction of PSA values using sequence variants associated with PSA levels

scientific article published on December 2010

Genetic determinants of hair, eye and skin pigmentation in Europeans

scientific article

Genetic variants associated with platelet count are predictive of human disease and physiological markers

scientific article published on 27 September 2021

Genetic variation in the prostate stem cell antigen gene PSCA confers susceptibility to urinary bladder cancer

scientific article published on 2 August 2009

Genome-wide association and replication studies identify four variants associated with prostate cancer susceptibility

scientific article published on 20 September 2009

Genome-wide association identifies seven loci for pelvic organ prolapse in Iceland and the UK Biobank

scientific article published on 17 March 2020

Genome-wide association meta-analysis yields 20 loci associated with gallstone disease

scientific article published in Nature Communications

Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24.

scientific article published in April 2007

Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm

scientific journal article

Genome-wide association study identifies multiple susceptibility loci for multiple myeloma ⬇️

scientific article

Genome-wide association study identifies sequence variants on 6q21 associated with age at menarche

scientific article

Genome-wide association study yields variants at 20p12.2 that associate with urinary bladder cancer

scientific article published on 26 May 2014

Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity

scientific article

Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA

scientific article published in Nature Communications

Genome-wide significant association between a sequence variant at 15q15.2 and lung cancer risk

scientific article

Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma

scientific journal article

Germline variants at SOHLH2 influence multiple myeloma risk

scientific article published on 19 April 2021

HPV subtypes and immunological parameters of cervical cancer in Iceland during two time periods, 1958–1960 and 1995–1996☆ ⬇️

scientific article published on 01 April 2003

Hypothetical and factual willingness to participate in biobank research

scientific article

Identification of a novel susceptibility locus at 13q34 and refinement of the 20p12.2 region as a multi-signal locus associated with bladder cancer risk in individuals of European ancestry

scientific article published on 4 January 2016

Identification of low-frequency variants associated with gout and serum uric acid levels

scientific article published on 9 October 2011

Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma

scientific article published in Nature Communications

Influence of common genetic variation on lung cancer risk: meta-analysis of 14 900 cases and 29 485 controls

scientific article

Insertion of an SVA-E retrotransposon into the CASP8 gene is associated with protection against prostate cancer

scientific article published on 5 January 2016

Insights into imprinting from parent-of-origin phased methylomes and transcriptomes

Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes

scientific article published on 12 June 2017

Large-scale whole-genome sequencing of the Icelandic population

scientific article

Loss-of-function variants in ATM confer risk of gastric cancer

scientific article

Male-pattern baldness susceptibility locus at 20p11.

scientific article

Many sequence variants affecting diversity of adult human height

scientific article published in May 2008

Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1 and 13 more new loci associated with osteoarthritis

scholarly article by Unnur Styrkarsdottir et al published 29 October 2018 in Nature Genetics

Mutations in BRIP1 confer high risk of ovarian cancer

scientific article

New basal cell carcinoma susceptibility loci

scientific article

New common variants affecting susceptibility to basal cell carcinoma

scientific article

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

scientific article

Parental influence on human germline de novo mutations in 1,548 trios from Iceland

scientific article published on 20 September 2017

Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis

scientific article published on 23 April 2020

Predicting the probability of death using proteomics

scientific article published on 18 June 2021

Profile of common prostate cancer risk variants in an unscreened Romanian population

scientific article published on 20 December 2017

Prostate Cancer Progression and Survival in BRCA2 Mutation Carriers

scholarly article by Laufey Tryggvadottir et al published 12 June 2007 in Journal of the National Cancer Institute

Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer

scientific journal article

Replication of lung cancer susceptibility loci at chromosomes 15q25, 5p15, and 6p21: a pooled analysis from the International Lung Cancer Consortium

scientific article

Sequence variant at 4q25 near PITX2 associates with appendicitis

scientific article

Sequence variant at 8q24.21 associates with sciatica caused by lumbar disc herniation

scientific article published on 22 February 2017

Sequence variant on 8q24 confers susceptibility to urinary bladder cancer

scientific article

Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior

scientific article

Sequence variants at CYP1A1-CYP1A2 and AHR associate with coffee consumption

scientific article

Sequence variants in ARHGAP15, COLQ and FAM155A associate with diverticular disease and diverticulitis

scientific article

Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density

scientific journal article

Sequence variants in the PTCH1 gene associate with spine bone mineral density and osteoporotic fractures

scientific article published on 6 January 2016

The Icelandic Cancer Project--a population-wide approach to studying cancer

scientific article published in June 2004

The Icelandic founder mutation BRCA2 999del5: analysis of expression

scientific article

The effect of SNPs on expression levels in Nimblegen RNA expression microarrays

scientific article published on January 2015

The effective size of the Icelandic population and the prospects for LD mapping: inference from unphased microsatellite markers

scientific article published on 31 May 2006

The germline sequence variant rs2736100_C in TERT associates with myeloproliferative neoplasms

scientific article published on 30 January 2014

Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies

scientific article

Two newly identified genetic determinants of pigmentation in Europeans

scientific article

Two variants on chromosome 17 confer prostate cancer risk and the one in TCF2 protects against type 2 diabetes

article

Variant ASGR1 Associated with a Reduced Risk of Coronary Artery Disease

scientific article

Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits

scientific article published in Nature Communications

Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma

scientific article

Variants with large effects on blood lipids and the role of cholesterol and triglycerides in coronary disease

scientific article

Whole genome characterization of sequence diversity of 15,220 Icelanders

scientific article published on 21 September 2017

Whole genome sequencing finds rare high-risk genotypes for hip osteoarthritis in the COMP and CHADL genes

article

Whole-genome sequencing identifies rare genotypes in COMP and CHADL associated with high risk of hip osteoarthritis

scientific article published on 20 March 2017

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