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N Engl J Med. 2020 Sep 1. doi: 10.1056/NEJMoa2026116. Online ahead of print.PMID: 32871063

Mendelian Randomization Study of ACLY and Cardiovascular Disease.
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N Engl J Med. 2020 Aug 13;383(7):e50. doi: 10.1056/NEJMc1908496.PMID: 32786206 No abstract available.

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The nature of Neanderthal introgression revealed by 27,566 Icelandic genomes.
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Nature. 2020;582(7810):78-83. doi:10.1038/s41586-020-2225-9

Eighty-eight variants highlight the role of T cell regulation and airway remodeling in asthma pathogenesis
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Nat Commun. 2020 Jan 20;11(1):393. doi: 10.1038/s41467-019-14144-8.

Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis. 
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Commun Biol. 2020 Apr 23;3(1):189. doi: 10.1038/s42003-020-0921-5. 

Spread of SARS-CoV-2 in the Icelandic Population.
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N Engl J Med. 2020 Apr 14. doi: 10.1056/NEJMoa2006100. [Epub ahead of print]

Genome-wide association identifies seven loci for pelvic organ prolapse in Iceland and the UK Biobank.
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Commun Biol. 2020 Mar 17;3(1):129. doi: 10.1038/s42003-020-0857-9.

Disclosure of Genetic Risk Revealed in a Research Study.
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N Engl J Med. 2020 Feb 20;382(8):763-765. doi: 10.1056/NEJMclde1915107. No abstract available.




Lipoprotein(a) Concentration and Risks of Cardiovascular Disease and Diabetes.
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J Am Coll Cardiol. 2019 Dec 17;74(24):2982-2994. doi: 10.1016/j.jacc.2019.10.019. Epub 2019 Dec 9. 

Brain age prediction using deep learning uncovers associated sequence variants.
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Nat Commun. 2019 Nov 27;10(1):5409. doi: 10.1038/s41467-019-13163-9.

GraphTyper2 enables population-scale genotyping of structural variation using pangenome graphs.
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Association of Genetically Predicted Lipid Levels With the Extent of Coronary Atherosclerosis in Icelandic Adults.
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Jama Cardio 2019 Nov 20. doi: 10.1001/jamacardio.2019.2946. [Epub ahead of print]

The mother’s risk of premature death after child loss across two centuries.
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Cancer Epidemiol Biomarkers Prev. 2019 Oct 30. pii: cebp.1060.2018. doi: 10.1158/1055-9965.EPI-18-1060.

Sequence variants with large effects on cardiac electrophysiology and disease.
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Nat Commun. 2019 Oct 22;10(1):4803. doi: 10.1038/s41467-019-12682-9.

Attention-deficit hyperactivity disorder shares copy number variant risk with schizophrenia and autism spectrum disorder.
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Transl Psychiatry. 2019 Oct 17;9(1):258. doi: 10.1038/s41398-019-0599-y.

Publisher Correction: GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures.
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Nat Commun. 2019 May 24;10(1):2358. doi: 10.1038/s41467-019-10425-4.

GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures.
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Nat Commun. 2019 May 3;10(1):2054. doi: 10.1038/s41467-019-09860-0.

A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy.
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Nat Commun. 2019 Apr 16;10(1):1777. doi: 10.1038/s41467-019-09719-4.

Sequence variation at ANAPC1 accounts for 24% of the variability in corneal endothelial cell density.
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Nat Commun. 2019 Mar 20;10(1):1284. doi: 10.1038/s41467-019-09304-9.

Sequence variation at ANAPC1 accounts for 24% of the variability in corneal endothelial cell density.
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Nat Commun. 2019 Mar 20;10(1):1284. doi: 10.1038/s41467-019-09304-9. 

Characterizing mutagenic effects of recombination through a sequence-level genetic map.
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Science. 2019 Jan 25;363(6425). pii: eaau1043. doi: 10.1126/science.aau1043.

A loss-of-function variant in ALOX15 protects against nasal polyps and chronic rhinosinusitis.
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Nat Genet. 2019 Jan 14. doi: 10.1038/s41588-018-0314-6. [Epub ahead of print]



Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1 and 13 more new loci associated with osteoarthritis.
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Nat Genet. 2018 Dec;50(12):1681-1687. doi: 10.1038/s41588-018-0247-0. Epub 2018 Oct 29. Kristjansson er al.

Genome-wide association meta-analysis yields 20 loci associated with gallstone disease.
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Sequence variants associating with urinary biomarkers.
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Reciprocal White Matter Changes Associated With Copy Number Variation at 15q11.2 BP1-BP2: A Diffusion Tensor Imaging Study.
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Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA.
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Multiple transmissions of de novo mutations in families
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Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1 and 13 more new loci associated with osteoarthritis.
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Nat Genet. 2018 Oct 29. doi: 10.1038/s41588-018-0247-0. [Epub ahead of print]

A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease.
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Variants in NKX2-5 and FLNC Cause Dilated Cardiomyopathy and Sudden Cardiac Death.
Sveinbjornsson G, Circ Genom Precis Med. 2018 Aug;11(8):e002151. doi: 10.1161/CIRCGEN.117.002151. 

Insights into imprinting from parent-of-origin phased methylomes and transcriptomes.
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Nat Genet. 2018 Nov;50(11):1542-1552. doi: 10.1038/s41588-018-0232-7. Epub 2018 Oct 22.

Identification of Lynch syndrome risk variants in the Romanian population.
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Coding variants in RPL3L and MYZAP increase risk of atrial fibrillation.
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A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin.
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Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits.
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MAP1B mutations cause intellectual disability and extensive white matter deficit.
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Ancient genomes from Iceland reveal the making of a human population
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Association of BRCA2 K3326* With Small Cell Lung Cancer and Squamous Cell Cancer of the Skin.
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2017 William Allan Award
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A Missense Variant in PLEC Increases Risk of Atrial Fibrillation.
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Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters.
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Truncating mutations in RBM12 are associated with psychosis.
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Variants in the fetal genome near FLT1 are associated with risk of preeclampsia.
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A rare splice donor mutation in the haptoglobin gene associates with blood lipid levels and coronary artery disease.
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Sequence variant at 4q25 near PITX2 associates with appendicitis.
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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.
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Nat Commun. 2017 Jun 6;8:15789. doi: 10.1038/ncomms15789.

Clonal hematopoiesis, with and without candidate driver mutations, is common in the elderly.
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Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2
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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.
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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.
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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.
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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.
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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.
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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.


Epigenetic and genetic components of height regulation.
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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.
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Sci Rep. 2016 Nov 4;6:36189. doi: 10.1038/srep36189.

The rate of meiotic gene conversion varies by sex and age.
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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.
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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.
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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.



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Bart L. Staker, Kathryn Hjerrild, Michael D. Feese, Craig A. Behnke, Alex B. Burgin Jr., and Lance Stewart.
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Health care and privacy
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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.
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A genome-wide scan for preeclampsia in the Netherlands
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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.
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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.
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Agnar Helgason et al.
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Jeffrey Gulcher and Kari Stefansson.
The Icelandic Healthcare Database and Informed Consent.
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Daniel F. Gudbjartsson, Kristjan Jonsson, Michael L. Frigge and Augustine Kong.
Allegro, a new computer program for multipoint linkage analysis.
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Sigurdardottir S, Helgason A, Gulcher JR, Stefansson K, Donnelly P.
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American Journal of Human Genetics (Vol. 66, No. 5).

Agnar Helgason, Sigrun Sigurdardottir et al.
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Birgir Palsson, Frosti Palsson et al.
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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)


Jeff Gulcher and Kari Stefansson
Population Genomics: Laying the Groundwork for Genetic Disease Modeling and Targeting.
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Jeffrey Gulcher, Thorlakur Jonsson et al.
Mapping of a Familial Essential Tremor Gene, FET1, to Chromosome 3q13.
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