SELECTED PUBLICATIONS

2017

Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters.
Arnadottir GA et al.
BMC Med Genet. 2017 Oct 2;18(1):103. doi: 10.1186/s12881-017-0466-8.

Graphtyper enables population-scale genotyping using pangenome graphs.
Eggertsson HP et al
Nat Genet. 2017 Sep 25. doi: 10.1038/ng.3964. [Epub ahead of print]

Whole genome characterization of sequence diversity of 15,220 Icelanders.
Jónsson H et al
Sci Data. 2017 Sep 21;4:170115. doi: 10.1038/sdata.2017.115.

Parental influence on human germline de novo mutations in 1,548 trios from Iceland
Jonsson H et al
Nature 2017 Sept 20. doi:10.1038/nature24018 [Epub ahead of print]

Effect of sequence variants on variance in glucose levels predicts type 2 diabetes risk and accounts for heritability.
Ivarsdottir EV et al
Nat Genet. 2017 Aug 7. doi: 10.1038/ng.3928. [Epub ahead of print]

Truncating mutations in RBM12 are associated with psychosis.
Steinberg S et al
Nat Genet. 2017 Jun 19. doi: 10.1038/ng.3894. [Epub ahead of print]

Identification of sequence variants influencing immunoglobulin levels.
Jonsson S et al.
Nat Genet. 2017 Jun 19. doi: 10.1038/ng.3897. [Epub ahead of print]

Variants in the fetal genome near FLT1 are associated with risk of preeclampsia.
McGinnis R et al
Nat Genet. 2017 Jun 19. doi: 10.1038/ng.3895. [Epub ahead of print]

Reproductive fitness and genetic risk of psychiatric disorders in the general population.
Mullins N et al.
Nat Commun. 2017 Jun 13;8:15833. doi: 10.1038/ncomms15833.

A rare splice donor mutation in the haptoglobin gene associates with blood lipid levels and coronary artery disease.
Bjornsson E et al.
Hum Mol Genet. 2017 Jun 15;26(12):2364-2376. doi: 10.1093/hmg/ddx123.

Sequence variant at 4q25 near PITX2 associates with appendicitis.
Kristjansson RP et al.
Sci Rep. 2017 Jun 8;7(1):3119. doi: 10.1038/s41598-017-03353-0.

Sequence variants in ARHGAP15, COLQ and FAM155A associate with diverticular disease and diverticulitis.
Sigurdsson S et al.
Nat Commun. 2017 Jun 6;8:15789. doi: 10.1038/ncomms15789.

Clonal hematopoiesis, with and without candidate driver mutations, is common in the elderly.
Zink F et al
Blood. 2017 May 8. pii: blood-2017-02-769869. doi: 10.1182/blood-2017-02-769869. [Epub ahead of print]

Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2
Haraldsdottir S et al
Nat Commun. 2017 May 3;8:14755. doi: 10.1038/ncomms14755.

Whole-genome sequencing identifies rare genotypes in COMP and CHADL associated with high risk of hip osteoarthritis.
Styrkarsdottir U et al
Nat Genet. 2017 May;49(5):801-805. doi: 10.1038/ng.3816. Epub 2017 Mar 20.

15q11.2 CNV affects cognitive, structural and functional correlates of dyslexia and dyscalculia.
Ulfarsson MO et al
Transl Psychiatry. 2017 Apr 25;7(4):e1109. doi: 10.1038/tp.2017.77.

A rare splice donor mutation in the haptoglobin gene associates with blood lipid levels and coronary artery disease.
Bjornsson E et al
Hum Mol Genet. 2017 Apr 7. doi: 10.1093/hmg/ddx123. [Epub ahead of print]

Diversity in non-repetitive human sequences not found in the reference genome
Kehr B et al.
Nat Genet. 2017 Apr;49(4):588-593. doi: 10.1038/ng.3801. Epub 2017 Feb 27.

A rare IL33 loss-of-function mutation reduces blood eosinophil counts and protects from asthma.
Smith D et al.
PLoS Genet. 2017 Mar 8;13(3):e1006659. doi: 10.1371/journal.pgen.1006659. [Epub ahead of print]

Polygenic risk scores for schizophrenia and bipolar disorder associate with addiction.
Reginsson GW et al
Addict Biol. 2017 Feb 23. doi: 10.1111/adb.12496. [Epub ahead of print]

Sequence variant at 8q24.21 associates with sciatica caused by lumbar disc herniation.
Bjornsdottir G et al
Nat Commun. 2017 Feb 22;8:14265. doi: 10.1038/ncomms14265.

A genome-wide association study yields five novel thyroid cancer risk loci.
Gudmundsson J et al
Nat Commun. 2017 Feb 14;8:14517. doi: 10.1038/ncomms14517.

Selection against variants in the genome associated with educational attainment.
Kong A et al.
Proc Natl Acad Sci U S A. 2017 Jan 17. pii: 201612113. doi: 10.1073/pnas.1612113114. [Epub ahead of print]

A frameshift deletion in the sarcomere gene MYL4 causes early-onset familial atrial fibrillation.
Gudbjartsson DF et al.
Eur Heart J. 2017 Jan 1;38(1):27-34. doi: 10.1093/eurheartj/ehw379.

2016

Epigenetic and genetic components of height regulation.
Benonisdottir S et al.
Nat Commun. 2016 Nov 16;7:13490. doi: 10.1038/ncomms13490.

Multi-nucleotide de novo Mutations in Humans.
Besenbacher S et al.
PLoS Genet. 2016 Nov 15;12(11):e1006315. doi: 10.1371/journal.pgen.1006315.

A sequence variant associating with educational attainment also affects childhood cognition.
Gunnarsson B et al.
Sci Rep. 2016 Nov 4;6:36189. doi: 10.1038/srep36189.

The rate of meiotic gene conversion varies by sex and age.
Halldorsson BV et al.
Nat Genet. 2016 Sep 19. doi: 10.1038/ng.3669. [Epub ahead of print]

GORpipe: a query tool for working with sequence data based on a Genomic Ordered Relational (GOR) architecture.
Guðbjartsson H et al.Bioinformatics. 2016 Jun 23. pii: btw199. [Epub ahead of print]

Common variants upstream of KDR encoding VEGFR2 and in TTC39B associate with endometriosis.
Steinthorsdottir V et al.
Nat Commun. 2016 Jul 25;7:12350. doi: 10.1038/ncomms12350.

Variant ASGR1 Associated with a Reduced Risk of Coronary Artery Disease.
Nioi P et al.
N Engl J Med. 2016 May 18. [Epub ahead of print]

Variants with large effects on blood lipids and the role of cholesterol and triglycerides in coronary disease.
Helgadottir A et al.
Nat Genet. 2016 May 2. doi: 10.1038/ng.3561. [Epub ahead of print] PMID: 27135400

A rare missense mutation in CHRNA4 associates with smoking behavior and its consequences.
Thorgeirsson TE et al.
Mol Psychiatry. 2016 May;21(5):594-600. doi: 10.1038/mp.2016.13.

Weighting sequence variants based on their annotation increases power of whole-genome association studies.
Sveinbjornsson G et al.
Nat Genet. 2016 Mar;48(3):314-7. doi: 10.1038/ng.3507. Epub 2016 Feb 8.

Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase.
Kristjansson RP et al.
Nat Commun. 2016 Feb 3;7:10572. doi: 10.1038/ncomms10572.

HLA class II sequence variants influence tuberculosis risk in populations of European ancestry.
Sveinbjornsson G et al.
Nat Genet. 2016 Mar;48(3):318-22. doi: 10.1038/ng.3498. Epub 2016 Feb 1.

Sequence variants in the PTCH1 gene associate with spine bone mineral density and osteoporotic fractures.
Styrkarsdottir U et al.
Nat Commun. 2016 Jan 6;7:10129. doi: 10.1038/ncomms10129.

Insertion of an SVA-E retrotransposon into the CASP8 gene is associated with protection against prostate cancer.
Stacey SN et al.
Hum Mol Genet. 2016 Mar 1;25(5):1008-18. doi: 10.1093/hmg/ddv622. Epub 2016 Jan 5.

2015

 

van Hecke O
Neuropathic pain phenotyping by international consensus (NeuroPPIC) for genetic studies: a NeuPSIG systematic review, Delphi survey, and expert panel recommendations.

Hancock DB
Genome-wide meta-analysis reveals common splice site acceptor variant in CHRNA4 associated with nicotine dependence.

Lund SH
The effect of SNPs on expression levels in Nimblegen RNA expression microarrays.

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

Oddsson A
Common and rare variants associated with kidney stones and biochemical traits.

Styrkarsdottir U
Two Rare Mutations in the COL1A2 Gene Associate With Low Bone Mineral Density and Fractures in Iceland.

Huttenlocher J
Heterozygote carriers for CNVs in PARK2 are at increased risk of Parkinson’s disease.

Swaminathan B
Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma.

Helgason H
Loss-of-function variants in ATM confer risk of gastric cancer.

Power RA
Polygenic risk scores for schizophrenia and bipolar disorder predict creativity.

Bjornsson E
Common sequence variants associated with coronary artery disease correlate with the extent of coronary atherosclerosis.

Stacey SN
New basal cell carcinoma susceptibility loci.

Sulem P
Identification of a large set of rare complete human knockouts.

Steinberg S
Loss-of-function variants in ABCA7 confer risk of Alzheimer’s disease.

Helgason A
The Y-chromosome point mutation rate in humans.

Gudbjartsson DF
Large-scale whole-genome sequencing of the Icelandic population.

 Gudbjartsson DF
Sequence variants from whole genome sequencing a large group of Icelanders.

2014

Sveinbjornsson G
Rare mutations associating with serum creatinine and chronic kidney disease.

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

Bjornsdottir G
The Adult Reading History Questionnaire (ARHQ) in Icelandic: Psychometric Properties and Factor Structure.

Flannick J
Loss-of-function mutations in SLC30A8 protect against type 2 diabetes.

Styrkarsdottir U
Severe osteoarthritis of the hand associates with common variants within the ALDH1A2 gene and with rare variants at 1p31.

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

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

Bjornsdottir G
Psychometric properties of the Icelandic NEO-FFI in a general population sample compared to a sample recruited for a study on the genetics of addiction.

Kong A
Common and low-frequency variants associated with genome-wide recombination rate.

2013

Thorgeirsson TE
A common biological basis of obesity and nicotine addiction

Kamb A
Human genetics as a foundation for innovative drug development.

Grarup N
Genetic architecture of vitamin B12 and folate levels uncovered applying deeply sequenced large datasets.

Styrkarsdottir U et al.
Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits. Nature. 2013 May 23;497(7450):517-20. doi: 10.1038/nature12124. Epub 2013 May 5.

Stefansson H
CNVs conferring risk of autism or schizophrenia affect cognition in controls

Jonsson T
Variant of TREM2 associated with the risk of Alzheimer’s disease.

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

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

Bjornsdottir G
The Adult Reading History Questionnaire (ARHQ) in Icelandic: Psychometric Properties and Factor Structure

2012

Kong A et al.
Rate of de novo mutations and the importance of father’s age to disease risk. Nature. 2012 Aug 23;488(7412):471-5. doi: 10.1038/nature11396.

Jonsson T et al.
DA mutation in APP protects against Alzheimers disease and age-related cognitive decline.  Nature. 2012 Jul 11. doi: 10.1038/nature11283. [Epub ahead of print]

Gudmundsson J et al.
Discovery of common variants associated with low TSH levels and thyroid cancer risk [Epub ahead of print]

Steinberg S
Common variant at 16p11.2 conferring risk of psychosis

Helgadottir A
Apolipoprotein(a) genetic sequence variants associated with systemic atherosclerosis and coronary atherosclerotic burden but not with venous thromboembolism.

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

2011

Sulem P et al.
Identification of low-frequency variants associated with gout and serum uric acid levels. [Epub ahead of print]

Rafnar T et al.
Mutations in BRIP1 confer high risk of ovarian cancer. [Epub ahead of print]

Stacy SN.
A germline variant in the TP53 polyadenylation signal confers cancer susceptibility. [Epub ahead of print]

Holm H et al.
A rare variant in MYH6 is associated with high risk of sick sinus syndrome. [Epub ahead of print]

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

Steinberg S
Expanding the range of ZNF804A variants conferring risk of psychosis

Steinberg S
Common variants at VRK2 and TCF4 conferring risk of schizophrenia

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

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

Ebenesersdóttir SS
A new subclade of mtDNA haplogroup C1 found in Icelanders: evidence of pre-Columbian contact?

2010

Gudmundsson J et al. (PDF Version).
Correction of PSA values with sequence variants associating with PSA levels. Science Translational Medicine 2010 Dec 15. [Epub ahead of print]

Kong A et al.
Fine-scale recombination rate differences between sexes, populations and individuals. Nature 2010 Okt 28. [Epub ahead of print]

Thorleifsson G et al.
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma. Nat Genet. 2010 Sep 12. [Epub ahead of print]

Gudbjartsson DF et al.
Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases. PLoS Genet. 2010 Jul 29;6(7):e1001039.

Stacy SN et al.
Ancestry-shift refinement mapping of the C6orf97-ESR1 breast cancer susceptibility locus. PLoS Genet. 2010 Jul 22;6(7):e1001029.

Gretarsdottir S et al.
Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm. Nat Genet. 2010 Aug;42(8):692-7. Epub 2010 Jul 11.

Thorgeirsson TE et al.
Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior. Nat Genet. 2010 Apr 25. [Epub ahead of print]

Kiemeney LA et al.
A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer. Nat Genet. 2010 Mar 28. [Epub ahead of print]

Holm H et al.
Several common variants modulate heart rate, PR interval and QRS duration. Nat Genet. 2010 Jan 10. [Epub ahead of print]

Thorleifsson G
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma.

Styrkarsdottir U
European bone mineral density loci are also associated with BMD in East-Asian populations.

Holm Hilma
Genetic Risk Score and Cardiovascular Events in Women

Halapi Eva
A sequence variant on 17q21 is associated with age at onset and severity of asthma

Tyrfingsson T
Addictions and their familiality in Iceland.

Gulcher J
Genetic risk information for common diseases may indeed be already useful for prevention and early detection

2009

Kong A et al.
Parental origin of sequence variants associated with complex diseases. Nature. 2009 Dec 17;462(7275):868-74.

Gudmundsson J et al.
Genome-wide association and replication studies identify four variants associated with prostate cancer susceptibility. Nat Genet. 2009 Sep 20. [Epub ahead of print]

Gudbjartsson DF et al.
A sequence variant in ZFHX3 on 16q22 associates with atrial fibrillation and ischemic stroke. Nat Genet. 2009 Jul 13. [Epub ahead of print]

Stacey SN et al.
New common variants affecting susceptibility to basal cell carcinoma. Nature. 2009 Jul 5. [Epub ahead of print]

Stefansson H et al.
Common variants conferring risk of schizophrenia. Nature. 2009 Jul 1. [Epub ahead of print]

Thorleifsson G et al.
Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density. Nat Genet. 2009 June 28. [Epub ahead of print]

Sulem P et al.
Genome-wide association study identifies sequence variants on 6q21 associated with age at menarche. Nat Genet. 2009 May 17. [Epub ahead of print]

Gudbjartsson DF et al.
Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction. Nat Genet. 2009 Feb 8. [Epub ahead of print]

Gudmundsson J et al.
Common variants on 9q22.33 and 14q13.3 predispose to thyroid cancer in European populations. Nat Genet. 2009 Feb 6. [Epub ahead of print]

Stefansson H et al.
Variant in the sequence of the LINGO1 gene confers risk of essential tremor. Nat Genet. 2009 Feb 1. [Epub ahead of print]

Rafnar T et al.
Sequence variants at the TERT-CLPTM1L locus associate with many cancer types. Nat Genet. 2009 Feb;41(2):221-7. Epub 2009 Jan 18.

Helgason A et al.
Sequences from first settlers reveal rapid evolution in Icelandic mtDNA pool. PLoS Genet. 2009 Jan;5(1):e1000343. Epub 2009 Jan 16.

Styrkarsdottir U et al.
New sequence variants associated with bone mineral density. Nat Genet. 2009 Jan;41(1):15-7. Epub 2008 Dec 14.

2008

Stacey SN et al.
Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity. Nat Genet. 2009 Jan;41(1):18-24. Epub 2008 Dec 14.

Stacey SN et al.
Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits. Nat Genet. 2008 Oct 12. [Epub ahead of print]

Kiemeney LA et al.
Sequence variant on 8q24 confers susceptibility to urinary bladder cancer.
Nat Genet. 2008 Sep 14. [Epub ahead of print]

Kong A et al.
Detection of sharing by descent, long-range phasing and haplotype imputation.
Nat Genet. 2008 Aug 17. [Epub ahead of print]

Stefansson H et al.
Large recurrent microdeletions associated with schizophrenia.
Nature. 2008 Jul 30 [Epub ahead of print]

Gudbjartsson DF et al.
ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma.
Nature Genetics. 2008 May 18 [Epub ahead of print]

Sulem P et al.
Two newly identified genetic determinants of pigmentation in Europeans.
Nature Genetics. 2008 May 18 [Epub ahead of print]

Styrkarsdottir U et al.
Multiple Genetic Loci for Bone Mineral Density and Fractures.
New England Journal of Medicine. 2008 Apr 29 [Epub ahead of print]

Stacey SN et al.
Common variants on chromosone 5p12 confer susceptibility to estrogen receptor-positive breast cancer.
Nature Genetics. 2008 Apr 27 [Epub ahead of print]

Gudbjartsson DF et al.
Many sequence variants affecting diversity of adult human height.
Nature Genetics. 2008 Apr 6 [Epub ahead of print].

Thorgeirsson TE et al.
A variant associated with nicotine dependence, lung cancer and peripheral arterial disease.
Nature. 2008 Apr 3;452(7187):638-42.

Emilsson V et al.
Genetics of gene expression and its effect on disease.
Nature. 2008 Mar 27;452(7186):423-8. Epub 2008 Mar 16.

Gudmundsson J et al. 
Common sequence variants on 2p15 and Xp11.22 confer susceptibility to prostate cancer.
Nat Genet. 2008 Mar;40(3):281-3. Epub 2008 Feb 10.

Helgason A et al.
An association between the kinship and fertility of human couples.
Science. 2008 Feb 8;319(5864):813-6.

Kong A et al.
Sequence Variants in the RNF212 Gene Associate with Genomewide Recombination Rate.
Science. 2008 Mar 7;319(5868):1398-401. Epub 2008 Jan 31.

Gottfredsson M et al.
Lessons from the past: Familial aggregation analysis of fatal pandemic influenza (Spanish flu) in Iceland in 1918.
Proc Natl Acad Sci USA. 2008 Jan 29;105(4):1303-8. Epub 2008 Jan 23.

Weiss LA et al.
Association between microdeletion and microduplication at 16p11.2 and autism.
N Engl J Med. 2008 Feb 14;358(7):667-75. Epub 2008 Jan 9.

Helgadottir A et al.
The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm.
Nat Genet. 2008 Feb;40(2):217-24. Epub 2008 Jan 6

2007

Sulem P et al.
Genetic determinants of hair, eye and skin pigmentation in Europeans
Nat Genet [2007 Oct 21; [Epub ahead of print]].

Thorleifsson G et al.
Common Sequence Variants in the LOXL1 Gene Confer Susceptibility to Exfoliation Glaucoma
Science [2007 Aug 9; [Epub ahead of print]].

Hreinn Stefansson et al.
A Genetic Risk Factor for Periodic Limb Movements in Sleep
N Engl J Med [Epub ahead of print: 18.07.2007].

Gudbjartsson DF et al.
Variants conferring risk of atrial fibrillation on chromosome 4q25.
Nature 2007 [Epub ahead of print: 01.07.2007].

Gudmundsson J et al.
Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes
Nat Genet. 2007 [Epub ahead of print: 01.07.2007].

Stacey SN et al.
Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer.
Nat Genet. 2007 May 27; [Epub ahead of print].

Helgadottir A et al.
A Common Variant on Chromosome 9p21 Affects the Risk of Myocardial Infarction.
Science. 2007 Jun 8;316(5830):1491-3. Epub 2007 May 3.

Julius Gudmundsson et al.
Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24.
Nat Genet. 2007 April; Epub ahead of print.

Bjarnadottir M et al.
Neuregulin1 (NRG1) Signaling through Fyn Modulates NMDA Receptor Phosphorylation: Differential Synaptic
Function in NRG1_/_ Knock-Outs Compared with Wild-Type Mice.
J Neurosci. 2007 Apr 25;27(17):4519-29

Valgerdur Steinthorsdottir et al.
A variant in CDKAL1 influences insulin response and risk
of type 2 diabetes
Nat Genet. 2007 April; Epub ahead of print.

Agnar Helgason et al.
Refining the impact of TCF7L2 gene variants on type 2 diabetes and adaptive evolution.
Nat Genet. 2007 Jan; Epub ahead of print.

2006

Gulcher J, Stefansson K.
Positional cloning: complex cardiovascular traits.
Methods Mol Med. 2006;128:137-52.

Gulcher JR, Kong A, Gretarsdottir S, Thorleifsson G, Stefansson K.
Reply to “Many hypotheses but no replication for the association between PDE4D and stroke”.
Nat Genet. 2006 Oct;38(10):1092-3.

Simon N. Stacey  et al.
The BARD1 Cys557Ser Variant and Breast Cancer Risk in Iceland
PLoS Med. 2006 Jun 20;3(7):e217 [Epub ahead of print] .

Amundadottir LT  et al.
A common variant associated with prostate cancer in European and African populations
Nature Genetics 2006, May 7; [Epub ahead of print].

Struan F A Grant  et al.
Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes.
Nature Genetics 2006. 38(3):320-3. Epub 2006 Jan 15.

Bergthorsson JT  et al.
A genome-wide study of allelic imbalance in human testicular germ cell tumors using microsatellite markers.
Cancer Genet Cytogenet. 2006 Jan 1;164(1):1-9.

Helgason A et al.
mtDNA variation in Inuit populations of Greenland and Canada: Migration history and population structure.
Am J Phys Anthropol. 2006 130(1):123-34.

2005

Helgason A et al.
mtDNA variation in Inuit populations of Greenland and Canada: Migration history and population structure.
Am J Phys Anthropol. 2005 Dec 13; [Epub ahead of print]

Jesus Sainz et al.
Segmental duplication density decrease with distance to human-mouse breaks of synteny
Eur J Hum Genet. 2005 Nov 23; [Epub ahead of print]

Magnusson KP, et al.
CFH Y402H Confers Similar Risk of Soft Drusen and Both Forms of Advanced AMD.
PLoS Med. 2005 Nov 29;3(1):e5 [Epub ahead of print]

Hakonarson H. et al.
Profiling of genes expressed in peripheral blood mononuclear cells predicts glucocorticoid sensitivity in asthma patients.
Proc Natl Acad Sci U S A 2005 Oct. 102(41): 14789-14794

Gudbjartsson DF, Thorvaldsson T, Kong A, Gunnarsson G, Ingolfsdottir A.
Allegro version 2.
Nature Genetics. 2005 Oct;37(10):1015-6.

Duan MS, Zhao N, Ossurardottir IB, Thorsteinsson T, Loftsson T.
Cyclodextrin solubilization of the antibacterial agents triclosan and triclocarban: formation of aggregates and higher-order complexes.
Int J Pharm. 2005 Jun 13;297(1-2):213-22.

Karason A, et. al.
Genetics of Psoriasis in Iceland: Evidence for Linkage of Subphenotypes to Distinct Loci.
J Invest Dermatol. 2005 Jun;124(6):1177-85.

Hakon Hakonarson et. al.
Effects of a 5-Lipoxygenase-Activating Protein Inhibitor on Biomarkers Associated With Risk of Myocardial Infarction
JAMA  –  Vol. 293 No. 18, May 11, 2005.

Gulcher JR, Gretarsdottir S, Helgadottir A, Stefansson K.
Genes contributing to risk for common forms of stroke.
Trends Mol Med. 2005 May;11(5):217-24.

Raymond AC, Staker BL, Burgin AB Jr.
Substrate specificity of tyrosyl-DNA phosphodiesterase I (Tdp1).
J Biol Chem. 2005 Jun 10;280(23):22029-35. Epub 2005 Apr 4.

Staker BL, Feese MD, Cushman M, Pommier Y, Zembower D, Stewart L, Burgin AB.
Structures of three classes of anticancer agents bound to the human topoisomerase I-DNA covalent complex.
J Med Chem. 2005 Apr 7;48(7):2336-45.

Goodacre S., Helgason A.,  et al.
Genetic evidence for a family-based Scandinavian settlement of Shetland and Orkney during the Viking periods.
Heredity. 2005 Aug;95(2):129-35.

Helgadottir, A.  et al.
Association between the Gene Encoding 5-Lipoxygenase-Activating Protein and Stroke Replicated in a Scottish Population.
Am J Hum Genet. 2005 Mar;76(3):505-9. Epub 2005 Jan 7.

Hreinn Stefansson et al.
A common inversion under selection in Europeans
Nat Genet. 2005 Feb;37(2):129-37. Epub 2005 Jan 16.

L. Stewart and Alex B. Burgin
Whole Gene Synthesis: A Gene-O-Matic Future.
In Frontiers in Drug Design and Discovery. Bentham Science Publishers, Ltd, Co-Editors Atta-ur-Rahman, B. A. Springer, G. W. Caldwell.

2004

Laufey T. Amundadottir et al.
Cancer as a Complex Phenotype: Pattern of Cancer Distribution within and beyond the Nuclear Family
PLoS Medicine –  Vol 1(3) December 2004

Unnur Thorsteinsdottir et al.
Familial risk of lung carcinoma in the Icelandic population
The Journal of the American Medical Association (JAMA) –  Vol. 292 No. 24, December 22/29, 2004

Agnar Helgason, Bryndís Yngvadóttir, Birgir Hrafnkelsson, Jeffrey Gulcher & Kári Stefánsson
An Icelandic example of the impact of population structure on association studies
Nature Genetics: Published online: 19 December 2004

Nollert P.
Lipidic cubic phases as matrices for membrane protein crystallization
Methods. 2004 Nov;34(3):348-53.

Colley WC, van der Merwe M, Vance JR, Burgin AB Jr, Bjornsti MA.
Substitution of Conserved Residues within the Active Site Alters the Cleavage Religation Equilibrium of DNA Topoisomerase I.
J Biol Chem. 2004 Dec 24;279(52):54069-78. Epub 2004 Oct 15

Steinthorsdottir V, Stefansson H, Ghosh S, Birgisdottir B, Bjornsdottir S, Fasquel AC, Olafsson O, Stefansson K, Gulcher JR.
Multiple novel transcription initiation sites for NRG1
Gene. 2004 Nov 10;342(1):97-105.

Nollert P.
Lipidic cubic phases as matrices for membrane protein crystallization.
Methods. 2004 Nov;34(3):348-53.

Augustine Kong et al.
Recombination rate and reproductive success in humans
Nature genetics, Published online: 03 October 2004

Rideout MC, Raymond AC, Burgin AB Jr.
Design and synthesis of fluorescent substrates for human tyrosyl-DNA phosphodiesterase I.
Nucleic Acids Res. 2004 Aug 27;32(15):4657-64. Print 2004.

E. Halapi et al.
Population genomics of drug responce
American Journal of Pharmacogenomics 2004; 4(2): 73-82

Hakonarson H and Stefansson K
Role of pharmacogenomics in drug development
Drug Development Research 2004 62(2): 86-96

R. Fossdal, et al.
A novel TEAD1 mutation is the causative allele in Sveinsson’s Chorioretinal Atrophy (helicoid peripapillary chorioretinal degeneration)
Hum Mol Genet. 2004 May 1;13(9):975-81. Epub 2004 Mar 11.

Wang X, Zhang J, Song A, Lebrilla CB, Lam KS.
Encoding method for OBOC small molecule libraries using a biphasic approach for ladder-synthesis of coding tags.
J Am Chem Soc. 2004 May 12;126(18):5740-9.

Li T, Stefansson H et al.
Identification of a novel neuregulin 1 at-risk haplotype in Han schizophrenia Chinese patients, but no association with the Icelandic/Scottish risk haplotype.
Molecular Psychiatry 2004, Epub ahead of print March 9.

Laufs J et al.
Association of vitamin D binding protein variants with chronic mucus hypersecretion in Iceland.
American Journal of Pharmacogenomics. 2004;4(1):63-8.

Birkisson IF et al.
Genetic Approaches to Assessing Evidence for Th1-type Cytokine Defect in Adult Asthma.
American Journal of Respiratory and Critical Care Medicine. 2004 Published online : 12 February 2004

Stefansson H, et al.
Neuregulin 1 and schizophrenia.
Annals of Medicine, 2004. 36:62-71

Helgadottir A, et al.
The gene encoding 5-lipoxygenase activating protein confers risk of myocardial infarction and stroke.
Nature genetics, 2004. 36(3):233-239 .

Halapi E., Hakonarson H.
Recent development in genomic and proteomic research for asthma.
Curr Opin Pulm Med. 2004; 10(1): 22-30.

Gulcher JR et al.
Reply to “A call for accurate phenotype definition in the study of complex disorders”.
Nature genetics 2004; 36(1): 3-4.

2003

Giedraitis V et al.
Genome-wide TDT analysis in a localized population with a high prevalance of multiple sclerosis indicates the importance of a region on chromosome 14q”.
Genes and Immunity 2003; 4(8): 559-563.

Thorarinn Blondal et al.
A novel MALDI-TOF based methodology for genotyping single nucleotide polymorphisms.
Nucleic Acids Res 2003; 31(24).

Unnur Styrkarsdottir et al.
Linkage of osteoporosis to chromosome 20p12 and association to BMP2.
PLoS Biology 2003; 1(3).

Berta Martins Silva, Theodora Thorlacius et al.
A whole genome association study in multiple sclerosis patients from North Portugal.
Journal of Neuroimmunology 2003 Oct;143(1-2):84-87.

Aslaug Jonasdottir et al.
A whole genome association study in Icelandic multiple sclerosis patients with 4804 markers.
Journal of Neuroimmunology 2003 Oct;143(1-2):84-87.

M. Laaksonen, A. Jonasdottir et al.
A whole genome association study in Finnish multiple sclerosis patients with 3669 markers.
Journal of Neuroimmunology 2003 Oct;143(1-2):70-73.

Asgeir Bjornsson et al.
Localization of a gene for migraine without aura to chromosome 4q21
The American Journal of Human Genetics, 2003 Nov;73(6):986-93.

Agnar Helgason and Kári Stefánsson.
Erroneous claims about the impact of mitochondrial DNA sequence database errors
The American Journal of Human Genetics 2003 Oct;73(4):974-975.

Solveig Gretarsdottir et al.
The phosphodiesterase 4D gene confers risk to ischemic stroke.
Nature genetics 2003 Oct;35(2):131-8.

A. Helgason, G. Nicholson, K. Stefánsson and P. Donnelly.
A reassessment of genetic diversity in Icelanders: Strong evidence from multiple loci for relative homogeneity caused by genetic drift.
Annals of Human Genetics 2003;67(4):281.

V. M. Backman et al.
HLA class II alleles and haplotypes in Icelandic Type I diabetic patients: comparison of Icelandic and Norwegian populations
Diabetologia (Vol. 45 Issue 3)

Stefansson H, Thorgeirsson TE, Gulcher JR, Stefansson K.
Neuregulin 1 in schizophrenia: out of Iceland.
Molecular Psychiatry 2003 Jul;8(7):639-40

Reynisdottir I, et al.
Localization of a susceptibility gene for type 2 diabetes to chromosome 5q34-q35.2.
American Journal of Human Genetics 2003 Aug;73(2):323-35

Thjodleifsson B, et al.
Subclinical Intestinal Inflammation: An inherited abnormality in Crohn’s disease relatives?
Gastroenterology 2003 June, Vol. 124: 1728-1737

Stefansson SE, et  al.
Genomewide scan for hand osteoarthritis: a novel mutation in matrilin-3.
American Journal of Human Genetics 2003 Jun;72(6):1448-59.

Helgason A, Hrafnkelsson B, Gulcher JR, Ward R, Stefansson K.
A populationwide coalescent analysis of Icelandic matrilineal and patrilineal genealogies: Evidence for a faster evolutionary rate of mtDNA lineages than Y chromosomes.
American Journal of Human Genetics 2003 June

Gudjonsson JE, et al.
Psoriasis patients who are homozygous for the HLA-Cw*0602 allele have a 2.5-fold increased risk of developing psoriasis compared with Cw6 heterozygotes.
British Journal of Dermatology 2003 Feb;148(2):233-5

Modin H, et al.
Genome-wide linkage screen of a consanguineous multiple sclerosis kinship.
Mult Scler 2003 Mar;9(2):128-34

Jonsson H,  et al.
The inheritance of hand osteoarthritis in Iceland.
Arthritis Rheum 2003 Feb;48(2):391-5

Thorgeirsson TE, et al.
Anxiety with Panic Disorder Linked to Chromosome 9q in Iceland.
American Journal of Human Genetics 2003 April 4;72(5)

Hakon Hakonarson, Jeffrey Gulcher & Kari Stefansson.
deCODE genetics, Inc. – Company Profile
Pharmocogenomics 2003; 4(2), 209-215

Stefansson H, et al.
Association of Neuregulin 1 with Schizophrenia Confirmed in a Scottish Population
Am J Hum Genet. 2003 Jan;72(1):83-7. Epub 2002 Dec 11

Karason A. et al.
A susceptibility gene for psoriatic arthritis maps to chromosome 16q: evidence for imprinting.
Am J Hum Genet. 2003 Jan;72(1):125-31. Epub 2002 Dec 09.

2002

Hakon Hakonarson & Eva Halapi.
Genetic Analyses in Asthma – Current Concepts and Future Directions
American Journal of Pharmocogenomics 2002; 2(3):, 155-166

Bart L. Staker, Kathryn Hjerrild, Michael D. Feese, Craig A. Behnke, Alex B. Burgin Jr., and Lance Stewart.
The mechanism of topoisomerase I poisoning by a camptothecin analog
Proceedings of the National Academy of Sciences (Vol. 99 Issue 24)

Benedikz J et al.
The natural history of untreated multiple sclerosis in Iceland. A total population-based 50 year prospective study.
Clin Neurol Neurosurg (Vol. 104 Issue 3)

Karason A, et al.
A Susceptibility Gene for Psoriatic Arthritis Maps to Chromosome 16q: Evidence for Imprinting
American Journal of Human Genetics 2003 Jan;72(1):125-31.

Hicks AA, et al.
A susceptibility gene for late-onset idiopathic Parkinson’s disease
Annals of Neurology 2002 Nov;52(5):549-55.

Gislason T, et al.
Familial Predisposition and Cosegregation Analysis of Adult Obstructive Sleep Apnea and the Sudden Infant Death Syndrome
American Journal of Respiratory and Critical Care Medicine (Vol. 166)

Stefansson H, et al.
Neuregulin 1 and Susceptibility to Schizophrenia.
American Journal of Human Genetics 2002 Oct;71(4):877-92.

Hakonarson H, et al.
A Major Susceptibility Gene for Asthma Maps to Chromosome 14q24.
American Journal of Human Genetics 2002 Sep;71(3):483-91.

Halapi E, Hakonarson H.
Advances in the development of genetic markers for the diagnosis of disease and drug response.
Expert Rev Mol Diagn. 2002 Sep;2(5):411-21.

Gudbjartsson T et al.
A population-based familial aggregation analysis indicates genetic contribution in a majority of renal cell carcinomas.
International Journal of Cancer (Vol. 100 No. 4)

Kong A, et al.
A high-resolution recombination map of the human genome
Nature Genetics (Vol. 33 No. 3)

Kristjansson K, Manolescu A, Kristinsson A, Hardarson T, Knudsen H, Ingason S, Thorleifsson G, Frigge ML, Kong A, Gulcher JR, Stefansson K.
Linkage of essential hypertension to chromosome 18q.
Hypertension (Vol. 39 No. 6)

Gretarsdottir S et al.
Localization of a Susceptibility Gene for Common Forms of Stroke to 5q12.
American Journal of Human Genetics 2002 Mar;70(3):593-603.

Gudmundsson G et al.
Localization of a Gene for Peripheral Arterial Occlusive Disease to Chromosome 1p31.
American Journal of Human Genetics 2002 Mar;70(3):586-92.

Stefansson H et al.
Genetic factors contribute to the risk of developing endometriosis.
Human Reproduction (Vol. 17 No. 3)

Gudjonsson JE, Karason A, Antonsdottir AA, Runarsdottir EH, Gulcher JR, Stefansson K, Valdimarsson H.
HLA-Cw6-Positive and HLA-Cw6-Negative Patients with Psoriasis Vulgaris have Distinct Clinical Features.
The Journal of investigative dermatology (Vol. 118 No. 2).

2001

Health care and privacy
An interview with Kári Stefánsson, founder and CEO of deCODE Genetics in Reykjavik, Iceland
Embo Reports volume 2 issue 11 pages 964-967

Hakonarson H et al.
Allelic Frequencies and Patterns of Single-nucleotide Polymorphisms in Candidate Genes for Asthma and Atopy in Iceland.
American Journal of Respiratory and Critical Care Medicine (Vol. 164 No. 11)

Hakonarson H, Halapi E, Whelan R, Gulcher J, Stefansson K, Grunstein MM.
Association Between IL-1beta/TNF-alpha-Induced Glucocorticoid-Sensitive Changes in Multiple Gene Expression and Altered Responsiveness in Airway Smooth Muscle.
American Journal of Respiratory Cell and Molecular Biology (Vol.6)

Olafsdottir BR, Rye DB, Scammell TE, Matheson JK, Stefansson K, Gulcher JR.
Polymorphisms in hypocretin/orexin pathway genes and narcolepsy.
Neurology (Vol. 57 No. 10)

Ingvarsson T, Stefansson SE, Gulcher JR, Jonsson HH, Jonsson H, Frigge ML, Palsdottir E, Olafsdottir G, Jonsdottir T, Walters GB, Lohmander LS, Stefansson K.
A large Icelandic family with early osteoarthritis of the hip associated with a susceptibility locus on chromosome 16p.
Arthritis & Rheumatism (Volume 44 No.11)

Stefansson H, Einarsdottir A, Geirsson RT, Jonsdottir K, Sverrisdottir G, Gudnadottir VG, Gunnarsdottir S, Manolescu A, Gulcher J, Stefansson K.
Endometriosis is not associated with or linked to the GALT gene.
Fertility and Sterility (Vol. 76, No. 5)

Lachmeijer A.M., Arngrímsson R., Bastiaans E.J., Frigge M.L., Pals G., Sigurdardóttir S., Stéfansson H., Pálsson B., Nicolae D., Kong A., Aarnoudse J.G., Gulcher J.R., Dekker G.A., ten Kate L.P., Stéfansson K.
A genome-wide scan for preeclampsia in the Netherlands
European Journal of Human Genetics, October 2001 (Vol. 9, No. 10)

2000

Sveinbjornsdottir S, Hicks AA, Jonsson Th, Petursson H, Gudmundsson G, Frigge ML, Kong A, Gulcher JR and Stefansson K.
Familial aggregation of Parkinson’s disease in Iceland.
New England Journal of Medicine (Vol. 343, No. 24)

Ingvarsson T, Stefansson SE, Hallgrimsdottir IB, Frigge ML, Jonsson H Jr, Gulcher J, Jonsson H, Ragnarsson J, Lohmander LS and Stefansson K
The inheritance of hip osteoarthritis in Iceland.
Arthritis & Rheumatism (Vol. 24, No. 12)

Gulcher J, Helgason A and Stefansson K.
Genetic homogeneity  of Icelanders.
Nature Genetics (Vol. 26, No. 4)

Kong A and Nicolae DL.
On a randomization procedure.
American Journal of Human Genetics (Vol. 67, No. 5)

Gudmundsson H, Gudbjartsson DF, Kong A, Gudbjartsson H, Frigge M, Gulcher JR and Stefansson K.
Inheritance of human longevity in Iceland.
European Journal of Human Genetics (Vol. 8, No. 10)

Gulcher JR, Kristjansson K, Gudbjartsson H and Stefansson K.
Protection of privacy by third-party encryption in genetic research in Iceland.
European Journal of Human Genetics (Vol. 8, No. 10)

Struan F.A. Grant et al.
Long PCR detection of the C4A null allele in B8-C4AQ0-C4B1-DR3.
Journal of Immunological Methods (Vol. 244).

Agnar Helgason et al.
Estimating the Scandinavian and Gaelic ancestry in the male settlers of Iceland.
American Journal of Human Genetics (Vol. 67, No. 3)

Jeffrey Gulcher and Kari Stefansson.
The Icelandic Healthcare Database and Informed Consent.
New England Journal of Medicine (Vol. 342, No. 24)

Daniel F. Gudbjartsson, Kristjan Jonsson, Michael L. Frigge and Augustine Kong.
Allegro, a new computer program for multipoint linkage analysis.
Nature Genetics (Vol. 25)

Sigurdardottir S, Helgason A, Gulcher JR, Stefansson K, Donnelly P.
The mutation rate in the human mtDNA control region.
American Journal of Human Genetics (Vol. 66, No. 5).

Agnar Helgason, Sigrun Sigurdardottir et al.
mtDNA and the Origin of the Icelanders: Deciphering Signals of Recent Population History.
American Journal of Human Genetics (Vol. 66, No. 3)

1999

Birgir Palsson, Frosti Palsson et al.
Using Quality Measures to Facilitate Allele Calling in High-Throughput Genotyping.
Genome Research (Vol. 9, No. 10)

Reynir Arngrimsson, Sigrun Sigurdardottir, Michael L. Frigge, et al.
A Genome-wide Scan Reveals a Maternal Susceptibility Locus for Pre-eclampsia on Chromosome 2p13. Human Molecular Genetics (Vol. 8, No. 9)

Jeffrey Gulcher and Kari Stefansson
Guest Editorial. The Icelandic Healthcare Database: A Tool to Create Knowledge, A Social Debate, and a Bioethical and Privacy Challenge.
Medscape, 5 August 1999

Jeffrey Gulcher and Kari Stefansson
An Icelandic Saga on a Centralized Healthcare Database and Democratic Decision-making.
Nature Biotechnology (Vol. 17, No. 7)

1998

Jeff Gulcher and Kari Stefansson
Population Genomics: Laying the Groundwork for Genetic Disease Modeling and Targeting.
Clinical Chemistry and Laboratory Medicine (Vol. 36, No. 8)

1997

Jeffrey Gulcher, Thorlakur Jonsson et al.
Mapping of a Familial Essential Tremor Gene, FET1, to Chromosome 3q13.
Nature Genetics (Vol. 17, pp. 84-87)