PUBLICATIONS

 

 

2020

Humoral Immune Response to SARS-CoV-2 in Iceland.
Gudbjartsson DF, et al.
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.
Holm H, et al.
N Engl J Med. 2020 Aug 13;383(7):e50. doi: 10.1056/NEJMc1908496.PMID: 32786206 

Saevarsdottir S, et al.
Nature. 2020;10.1038/s41586-020-2436-0. doi:10.1038/s41586-020-2436-0 [published online ahead of print, 2020 Jun 24]. 

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

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

Spread of SARS-CoV-2 in the Icelandic Population.
Gudbjartsson DF, et al.
N Engl J Med. 2020 Apr 14. doi: 10.1056/NEJMoa2006100.

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

Disclosure of Genetic Risk Revealed in a Research Study.
Castellanos A, et al.
N Engl J Med. 2020 Feb 20;382(8):763-765. doi: 10.1056/NEJMclde1915107. 

GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer.
Zhou W, et al.
Nat Commun. 2020 Aug 7;11(1):3981. doi: 10.1038/s41467-020-17718-z.PMID: 32769997 

 A genome-wide cross-phenotype meta-analysis of the association of blood pressure with migraine.
Guo Y, et al.
Nat Commun. 2020 Jul 6;11(1):3368. doi: 10.1038/s41467-020-17002-0.PMID: 32632093 

Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction.
Ntalla I, et al.
Nat Commun. 2020 May 21;11(1):2542. doi: 10.1038/s41467-020-15706-x.PMID: 32439900

 A phenome-wide association and Mendelian Randomisation study of polygenic risk for depression in UK Biobank.
Shen X, et al
Nat Commun. 2020 May 8;11(1):2301. doi: 10.1038/s41467-020-16022-0.PMID: 32385265 

Association of polygenic score for major depression with response to lithium in patients with bipolar disorder.
Amare AT, et al.
BT Mol Psychiatry. 2020 Mar 16. doi: 10.1038/s41380-020-0689-5. Online ahead of print.PMID: 32203155

Assessing thyroid cancer risk using polygenic risk scores.
Liyanarachchi S, et al.
Proc Natl Acad Sci U S A. 2020 Mar 17;117(11):5997-6002. doi: 10.1073/pnas.1919976117. Epub 2020 Mar 4.PMID: 32132206 

Identification of Genetic Loci Shared Between Attention-Deficit/Hyperactivity Disorder, Intelligence, and Educational Attainment.
O’Connell KS, et al.
Biol Psychiatry. 2020 Jun 15;87(12):1052-1062. doi: 10.1016/j.biopsych.2019.11.015. Epub 2019 Nov 29.PMID: 32061372

Genome-wide meta-analysis identifies eight new susceptibility loci for cutaneous squamous cell carcinoma.
Sarin KY et al.
Nat Commun. 2020 Feb 10;11(1):820. doi: 10.1038/s41467-020-14594-5.PMID: 32041948 

Genetic Risk of Coronary Artery Disease, Features of Atherosclerosis, and Coronary Plaque Burden.
Christiansen MK, et al.
J Am Heart Assoc. 2020 Feb 4;9(3):e014795. doi: 10.1161/JAHA.119.014795. Epub 2020 Jan 25.PMID: 31983321  

Eighty-eight variants highlight the role of T cell regulation and airway remodeling in asthma pathogenesis.
Olafsdottir TA, et al.
Nat Commun. 2020 Jan 20;11(1):393. doi: 10.1038/s41467-019-14144-8.PMID: 31959851 

The Genetics of the Mood Disorder Spectrum: Genome-wide Association Analyses of More Than 185,000 Cases and 439,000 Controls.
Coleman JRI, et al,
Biol Psychiatry. 2020 Jul 15;88(2):169-184. doi: 10.1016/j.biopsych.2019.10.015. Epub 2019 Nov 1.PMID: 31926635

Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure.
Shah S,et al.
Nat Commun. 2020 Jan 9;11(1):163. doi: 10.1038/s41467-019-13690-5.PMID: 31919418 

A Polygenic and Phenotypic Risk Prediction for Polycystic Ovary Syndrome Evaluated by Phenome-Wide Association Studies.
Joo YY, et al.
J Clin Endocrinol Metab. 2020 Jun 1;105(6):1918-36. doi: 10.1210/clinem/dgz326.PMID: 31917831

 

2019

Lipoprotein(a) Concentration and Risks of Cardiovascular Disease and Diabetes.
Gudbjartsson DF, et al.
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.
Jonsson BA, et al.
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.
Eggertsson HP, et al.
Nat Commun. 2019 Nov 27;10(1):5402. doi: 10.1038/s41467-019-13341-9.

Association of Genetically Predicted Lipid Levels With the Extent of Coronary Atherosclerosis in Icelandic Adults.
Björnsson E,  et al.
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.
Valdimarsdóttir UA, et al.
Elife. 2019 Nov 12;8. pii: e43476. doi: 10.7554/eLife.43476.

Common and rare sequence variants influencing tumor biomarkers in blood.
Olafsson S, et al.
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.
Norland K, et al.
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.
Gudmundsson, et al.
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.
Styrkarsdottir U, et al.
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.
Styrkarsdottir U. et al.
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.
Bjornsdottir G, et al.
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.
Ivarsdottir EV, et al.
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.
Halldorsson BV, et al.
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.
Kristjansson, et al. 
Nat Genet. 2019 Jan 14. doi: 10.1038/s41588-018-0314-6. [Epub ahead of print]

Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.
Tin A, Marten J, et al.
Nat Genet. 2019 Oct 2. doi: 10.1038/s41588-019-0504-x. [Epub ahead of print]

Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria.
Teumer A. et al.
Nat Commun. 2019 Sep 11;10(1):4130. doi: 10.1038/s41467-019-11576-0.

A polygenic resilience score moderates the genetic risk for schizophrenia.
Hess JL, et al.
Mol Psychiatry. 2019 Sep 6. doi: 10.1038/s41380-019-0463-8. [Epub ahead of print] 

Transcriptome-wide association study of multiple myeloma identifies candidate susceptibility genes.
Went M, et al.
Hum Genomics. 2019 Aug 20;13(1):37. doi: 10.1186/s40246-019-0231-5.

Genome-wide association study implicates CHRNA2 in cannabis use disorder.
Demontis D et al.
Nat Neurosci. 2019 Jul;22(7):1066-1074. doi: 10.1038/s41593-019-0416-1. Epub 2019 Jun 17.

Comparing migraine with and without aura to healthy controls using RNA sequencing.
Kogelman LJ, et al.
Cephalalgia. 2019 Oct;39(11):1435-1444. doi: 10.1177/0333102419851812. Epub 2019 May 19.

GBA and APOE ε4 associate with sporadic dementia with Lewy bodies in European genome wide association study.
Rongve A, et al.
Sci Rep. 2019 May 7;9(1):7013. doi: 10.1038/s41598-019-43458-2.

Tracking Five Millennia of Horse Management with Extensive Ancient Genome Time Series.
Fages A, et al.
Cell. 2019 May 30;177(6):1419-1435.e31. doi: 10.1016/j.cell.2019.03.049. Epub 2019 May 2.

Meta-Analysis of Genomewide Association Studies Reveals Genetic Variants for Hip Bone Geometry.
Hsu YH, et al.
J Bone Miner Res. 2019 Jul;34(7):1284-1296. doi: 10.1002/jbmr.3698. Epub 2019 Mar 19.

Clinical characteristics of patients with colorectal cancer with double somatic mismatch repair mutations compared with Lynch syndrome.
Pearlman R, et al.
J Med Genet. 2019 Jul;56(7):462-470. doi: 10.1136/jmedgenet-2018-105698. Epub 2019 Mar 15.

 Identification of common genetic risk variants for autism spectrum disorder.
Grove J, et al.
Nat Genet. 2019 Mar;51(3):431-444. doi: 10.1038/s41588-019-0344-8. Epub 2019 Feb 25.

Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use.
Liu M, et al.
Nat Genet. 2019 Feb;51(2):237-244. doi: 10.1038/s41588-018-0307-5. Epub 2019 Jan 14.

Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer’s disease risk.
Jansen IE, et al.
Nat Genet. 2019 Mar;51(3):404-413. doi: 10.1038/s41588-018-0311-9. Epub 2019 Jan 7.

A catalog of genetic loci associated with kidney function from analyses of a million individuals.
Wuttke M, et al.
Nat Genet. 2019 Jun;51(6):957-972. doi: 10.1038/s41588-019-0407-x. Epub 2019 May 31.

GBA and APOE ε4 associate with sporadic dementia with Lewy bodies in European genome wide association study.
Rongve A, et al.
Sci Rep. 2019 May 7;9(1):7013. doi: 10.1038/s41598-019-43458-2.

Genome-wide association study identifies 30 loci associated with bipolar disorder.
Stahl EA, et al.
Nat Genet. 2019 May;51(5):793-803. doi: 10.1038/s41588-019-0397-8. Epub 2019 May 1.

Genetic Overlap Between Alzheimer’s Disease and Bipolar Disorder Implicates the MARK2 and VAC14 Genes.
Drange OK et al.
Front Neurosci. 2019 Mar 13;13:220. doi: 10.3389/fnins.2019.00220. eCollection 2019.

Gene expression imputation across multiple brain regions provides insights into schizophrenia risk.
Huckins LM, et al.
Nat Genet. 2019 Apr;51(4):659-674. doi: 10.1038/s41588-019-0364-4. Epub 2019 Mar 25. Erratum in: Nat Genet. 2019 Jun;51(6):1068.

A genome-wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine.
Berghuis B, et al.
Epilepsia Open. 2019 Jan 17;4(1):102-109. doi: 10.1002/epi4.12297. eCollection 2019 Mar.

Interrogating the Genetic Determinants of Tourette’s Syndrome and Other Tic Disorders Through Genome-Wide Association Studies.
Yu D, et al.
Am J Psychiatry. 2019 Mar 1;176(3):217-227. doi: 10.1176/appi.ajp.2018.18070857.

Population-based identity-by-descent mapping combined with exome sequencing to detect rare risk variants for schizophrenia.
Harold D, et al.
Am J Med Genet B Neuropsychiatr Genet. 2019 Apr;180(3):223-231. doi: 10.1002/ajmg.b.32716. Epub 2019 Feb

Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution.
Justice AE, et al.
Nat Genet. 2019 Mar;51(3):452-469. doi: 10.1038/s41588-018-0334-2. Epub 2019 Feb 18.

Disentangling the genetics of lean mass.
Karasik D, et al.
Am J Clin Nutr. 2019 Feb 1;109(2):276-287. doi: 10.1093/ajcn/nqy272.

Shared heritability and functional enrichment across six solid cancers.
Jiang X, et al.
Nat Commun. 2019 Jan 25;10(1):431. doi: 10.1038/s41467-018-08054-4. Erratum in: Nat Commun. 2019 Sep 23;10(1):4386.

A Missense Variant in PTPN22 is a Risk Factor for Drug-induced Liver Injury.
Cirulli ET, et al.
Gastroenterology. 2019 May;156(6):1707-1716.e2. doi: 10.1053/j.gastro.2019.01.034. Epub 2019 Jan 18.

 

2018

Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1 and 13 more new loci associated with osteoarthritis.
Styrkarsdottir U, et al. 
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.
Ferkingstad E, et al.
Nat Commun. 2018 Nov 30;9(1):5101. doi: 10.1038/s41467-018-07460-y.

Sequence variants associating with urinary biomarkers.
Benonisdottir S, et al.
Hum Mol Genet. 2018 Nov 24. doi: 10.1093/hmg/ddy409. [Epub ahead of print]

Reciprocal White Matter Changes Associated With Copy Number Variation at 15q11.2 BP1-BP2: A Diffusion Tensor Imaging Study.
Silva AI, et al.
Biol Psychiatry. 2018 Nov 19. pii: S0006-3223(18)32009-2. doi: 10.1016/j.biopsych.2018.11.004. [Epub ahead of print]

Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA.
Gudmundsson J, et al.
Nat Commun. 2018 Nov 8;9(1):4568. doi: 10.1038/s41467-018-06920-9.*

Multiple transmissions of de novo mutations in families
Jónsson H, et al.
Nat Genet. 2018 Nov 5. doi: 10.1038/s41588-018-0259-9. [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.
Styrkarsdottir U, et al.
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.
Arnadottir GA, et al,
Nat Commun. 2018 Oct 25;9(1):4447. doi: 10.1038/s41467-018-06964-x.

Variants in NKX2-5 and FLNC Cause Dilated Cardiomyopathy and Sudden Cardiac Death.
Sveinbjornsson G, et al. 

Med. 2018 Aug;11(8):e002151. doi: 10.1161/CIRCGEN.117.002151. 

Insights into imprinting from parent-of-origin phased methylomes and transcriptomes.
Zink F, et al.
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.
Iordache PD, et al.
J Cell Mol Med. 2018 Oct 16. doi: 10.1111/jcmm.13881. [Epub ahead of print]

Coding variants in RPL3L and MYZAP increase risk of atrial fibrillation.
Thorolfsdottir RB, et al.
Commun Biol. 2018 Jun 12;1:68. doi: 10.1038/s42003-018-0068-9. eCollection 2018.  

A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin.
Oskarsson GR, et al.
Commun Biol. 2018 May 17;1:49. doi: 10.1038/s42003-018-0053-3. eCollection 2018.

Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits.
Rafnar T, et al.
Nat Commun. 2018 Sep 7;9(1):3636. doi: 10.1038/s41467-018-05428-6..

MAP1B mutations cause intellectual disability and extensive white matter deficit.
Walters GB, et al
Nat Commun. 2018 Aug 27;9(1):3456. doi: 10.1038/s41467-018-05595-6.

Relatedness disequilibrium regression estimates heritability without environmental bias.
Young AI, et al.
Nat Genet. 2018 Aug 13. doi: 10.1038/s41588-018-0178-9. [Epub ahead of print]

Ancient genomes from Iceland reveal the making of a human population
Ebenesersdóttir SS, et al
Science. 2018 Jun 1;360(6392):1028-1032. doi: 10.1126/science.aar2625

Association of BRCA2 K3326* With Small Cell Lung Cancer and Squamous Cell Cancer of the Skin.
Rafnar T,  et al
J Natl Cancer Inst. 2018 May 14. doi: 10.1093/jnci/djy002. [Epub ahead of print]

Rare SCARB1 mutations associate with high-density lipoprotein cholesterol but not with coronary artery disease.
Helgadottir A, et al.
Eur Heart J. 2018 Mar 27. doi: 10.1093/eurheartj/ehy169. [Epub ahead of print]

A rare missense mutation in MYH6 associates with non-syndromic coarctation of the aorta.
Bjornsson T, et al.
Eur Heart J. 2018 Mar 24. doi: 10.1093/eurheartj/ehy142. [Epub ahead of print]

Genome-wide analysis yields new loci associating with aortic valve stenosis.
Helgadottir A, et al.
Nat Commun. 2018 Mar 7;9(1):987. doi: 10.1038/s41467-018-03252-6.

2017 William Allan Award
Stefansson K
Am J Hum Genet. 2018 Mar 1;102(3):351-353. doi: 10.1016/j.ajhg.2018.01.012. No abstract available.

A rare missense variant in NR1H4 associates with lower cholesterol levels.
Deaton AM, et al.
Commun Biol. 2018 Feb 8;1:14. doi: 10.1038/s42003-018-0015-9. eCollection 2018.

Rare and Common Variants Conferring Risk of Tooth Agenesis.
Jonsson L, et al.
J Dent Res. 2018 May;97(5):515-522. doi: 10.1177/0022034517750109. Epub 2018 Jan 24.

The nature of nurture: Effects of parental genotypes.
Kong A, et al,
Science. 2018 Jan 26;359(6374):424-428. doi: 10.1126/science.aan6877.

Reconstructing an African haploid genome from the 18th century.
Jagadeesan A, et al
Nat Genet. 2018 Jan 15. doi: 10.1038/s41588-017-0031-6. [Epub ahead of print]

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

Cell Mol Med 2018 Mar; 22(3): 1574-1582. doi: 10.1111/jcmm.13433. Epub 2017 Dec 20. 

Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps.
Mahajan A, et al,
Nat Genet. 2018 Nov;50(11):1505-1513. doi: 10.1038/s41588-018-0241-6. Epub 2018 Oct 8.

Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma.
Went M, et al,
Nat Commun. 2018 Sep 13;9(1):3707. doi: 10.1038/s41467-018-04989-w. Erratum in: Nat Commun. 2019 Jan 10;10(1):213.

Association of Whole-Genome and NETRIN1 Signaling Pathway-Derived Polygenic Risk Scores for Major Depressive Disorder and White Matter Microstructure in the UK Biobank.
Barbu MC, et al.
Biol Psychiatry Cogn Neurosci Neuroimaging. 2019 Jan;4(1):91-100. doi: 10.1016/j.bpsc.2018.07.006. Epub 2018 Jul 31.

PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity.
Van Setten J, et al.
Nat Commun. 2018 Jul 25;9(1):2904. doi: 10.1038/s41467-018-04766-9.

Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6.
Prins BP, et al.
Genome Biol. 2018 Jul 17;19(1):87. doi: 10.1186/s13059-018-1457-6.

DNA methylation as a mediator of HLA-DRB1*15:01 and a protective variant in multiple sclerosis.
Kular L, et al.
Nat Commun. 2018 Jun 19;9(1):2397. doi: 10.1038/s41467-018-04732-5.

Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes.
Gusarova V, et al.
Nat Commun. 2018 Jun 13;9(1):2252. doi: 10.1038/s41467-018-04611-z.

Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition.
Small KS, et al.
Nat Genet. 2018 Apr;50(4):572-580. doi: 10.1038/s41588-018-0088-x. Epub 2018 Apr 9. Erratum in: Nat Genet. 2018 Sep;50(9):1342.

Genome-wide analyses using UK Biobank data provide insights into the genetic architecture of osteoarthritis.
Zengini E, et al.
Nat Genet. 2018 Apr;50(4):549-558. doi: 10.1038/s41588-018-0079-y. Epub 2018 Mar 20.

Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.
Malik R, et al.
Nat Genet. 2018 Apr;50(4):524-537. doi: 10.1038/s41588-018-0058-3. Epub 2018 Mar 12. Erratum in: Nat Genet. 2019 Jul;51(7):1192-1193.

Genome-wide analysis yields new loci associating with aortic valve stenosis.
Helgadottir A, et al.
Nat Commun. 2018 Mar 7;9(1):987. doi: 10.1038/s41467-018-03252-6.

Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.
Pardiñas AF, et al.
Nat Genet. 2018 Mar;50(3):381-389. doi: 10.1038/s41588-018-0059-2. Epub 2018 Feb 26. Erratum in: Nat Genet. 2019 Jul;51(7):1193. 

Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects.
Medina-Gomez C, et al.
Am J Hum Genet. 2018 Jan 4;102(1):88-102. doi: 10.1016/j.ajhg.2017.12.005.

Genome-wide association study across European and African American ancestries identifies a SNP in DNMT3B contributing to nicotine dependence.
Hancock DB, et al.
Mol Psychiatry. 2018 Sep;23(9):1911-1919. doi: 10.1038/mp.2017.193. Epub 2017 Oct 3.

Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia.
Sønderby IE, et al.

Mol Psychiatry. 2018 Oct 3. doi: 10.1038/s41380-018-0118-1. [Epub ahead of print] Erratum in:

Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 Families.

Gormley P, et al.

Mol Psychiatry. 2019 Jan 31;

Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.
Nielsen JB, et al.
Nat Genet. 2018 Sep;50(9):1234-1239. doi: 10.1038/s41588-018-0171-3. Epub 2018 Jul 30.

 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.
Lee JJ, et al.
Nat Genet. 2018 Jul 23;50(8):1112-1121. doi: 10.1038/s41588-018-0147-3.

Molecular genetic overlap between migraine and major depressive disorder.
Yang Y, et al.
Eur J Hum Genet. 2018 Aug;26(8):1202-1216. doi: 10.1038/s41431-018-0150-2. Epub 2018 Jul 11.

Age at first birth in women is genetically associated with increased risk of schizophrenia.
Ni G, et al.
Sci Rep. 2018 Jul 5;8(1):10168. doi: 10.1038/s41598-018-28160-z.

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes.
Bipolar Disorder and Schizophrenia Working Group of the Psychiatric Genomics Consortium.
Cell. 2018 Jun 14;173(7):1705-1715.e16. doi: 10.1016/j.cell.2018.05.046.

 Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness.
Willems SM, et al.
Nat Commun. 2017 Jul 12;8:16015. doi: 10.1038/ncomms16015.

Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.
Turcot V, et al.
Nat Genet. 2018 Jan;50(1):26-41. doi: 10.1038/s41588-017-0011-x. Epub 2017 Dec 22. Erratum in: Nat Genet. 2018 Mar 16;:

Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks.
Demenais F, et al.
Nat Genet. 2018 Jan;50(1):42-53. doi: 10.1038/s41588-017-0014-7. Epub 2017 Dec 22.

Systems genetics identifies a role for Cacna2d1 regulation in elevated intraocular pressure and glaucoma susceptibility.
Chintalapudi SR, et al.
Nat Commun. 2017 Nov 24;8(1):1755. doi: 10.1038/s41467-017-00837-5.

Does Childhood Trauma Moderate Polygenic Risk for Depression? A Meta-analysis of 5765 Subjects From the Psychiatric Genomics Consortium.
Peyrot WJ, et al.
Biol Psychiatry. 2018 Jul 15;84(2):138-147. doi: 10.1016/j.biopsych.2017.09.009. Epub 2017 Sep 21. Erratum in: Biol Psychiatry. 2018 Dec 1;84(11):857.

 

2017

Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease.
Robak LA, et al.
Brain. 2017 Dec 1;140(12):3191-3203. doi: 10.1093/brain/awx285.

Rare and low-frequency coding variants alter human adult height.
Marouli E, et al.
Nature. 2017 Feb 9;542(7640):186-190. doi: 10.1038/nature21039. Epub 2017 Feb 1.

Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks.
Demenais F, et al.
Nat Genet. 2018 Jan;50(1):42-53. doi: 10.1038/s41588-017-0014-7. Epub 2017 Dec 22.

Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.
Turcot V,  et al.
Nat Genet. 2018 Jan;50(1):26-41. doi: 10.1038/s41588-017-0011-x. Epub 2017 Dec 22.

An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans.
Scott RA, et al.
Diabetes. 2017 Nov;66(11):2888-2902. doi: 10.2337/db16-1253. Epub 2017 May 31.

Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.
McKay JD, et al.
Nat Genet. 2017 Jul;49(7):1126-1132. doi: 10.1038/ng.3892. Epub 2017 Jun 12.

Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk.
Day FR, et al.
Nat Genet. 2017 Jun;49(6):834-841. doi: 10.1038/ng.3841. Epub 2017 Apr 24.

Clonal hematopoiesis, with and without candidate driver mutations, is common in the elderly.
Zink F, et al.
Blood. 2017 Aug 10;130(6):742-752. doi: 10.1182/blood-2017-02-769869. Epub 2017 May 8.

Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease.
Robak LA, et al.
Brain. 2017 Dec 1;140(12):3191-3203. doi: 10.1093/brain/awx285.

Large meta-analysis of genome-wide association studies identifies five loci for lean body mass.
Zillikens MC, et al.
Nat Commun. 2017 Jul 19;8(1):80. doi: 10.1038/s41467-017-00031-7.

Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.
Aung T, et al.
Nat Genet. 2017 Jul;49(7):993-1004. doi: 10.1038/ng.3875. Epub 2017 May 29.

Genome-wide association analysis of insomnia complaints identifies risk genes and genetic overlap with psychiatric and metabolic traits.
Hammerschlag AR, et al.
Nat Genet. 2017 Nov;49(11):1584-1592. doi: 10.1038/ng.3888. Epub 2017 Jun 12.

Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets.
Wain LV, et al.
Nat Genet. 2017 Mar;49(3):416-425. doi: 10.1038/ng.3787. Epub 2017 Feb 6.

Variants in the fetal genome near FLT1 are associated with risk of preeclampsia.
McGinnis R, et al.
Nat Genet. 2017 Aug;49(8):1255-1260. doi: 10.1038/ng.3895. Epub 2017 Jun 19.

Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.
Autism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium.
Mol Autism. 2017 May 22;8:21. doi: 10.1186/s13229-017-0137-9. eCollection 2017.

Parental influence on human germline de novo mutations in 1,548 trios from Iceland.
Jónsson H, et al.
Nature. 2017 Sep 28;549(7673):519-522. doi: 10.1038/nature24018. Epub 2017 Sep 20.

Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders.
Weiner DJ, et al.
Nat Genet. 2017 Jul;49(7):978-985. doi: 10.1038/ng.3863. Epub 2017 May 15.

Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci.
Jones GT, et al.
Circ Res. 2017 Jan 20;120(2):341-353. doi: 10.1161/CIRCRESAHA.116.308765. Epub 2016 Nov 29.

Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness.
Willems SM, et al.
Nat Commun. 2017 Jul 12;8:16015. doi: 10.1038/ncomms16015.

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.

Genome-wide analyses for personality traits identify six genomic loci and show correlations with psychiatric disorders.
Lo MT, et al.
Nat Genet. 2017 Jan;49(1):152-156. doi: 10.1038/ng.3736. Epub 2016 Dec 5.

Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism.
Sapkota Y, et al.
Nat Commun. 2017 May 24;8:15539. doi: 10.1038/ncomms15539.

Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients.
McCormack M, et al.
Neurology. 2018 Jan 23;90(4):e332-e341. doi: 10.1212/WNL.0000000000004853. Epub 2017 Dec 29.

Discovery and functional prioritization of Parkinson’s disease candidate genes from large-scale whole exome sequencing.
Jansen IE, et al.
Genome Biol. 2017 Jan 30;18(1):22. doi: 10.1186/s13059-017-1147-9.

A Missense Variant in PLEC Increases Risk of Atrial Fibrillation.
Thorolfsdottir RB, et al.
J Am Coll Cardiol. 2017 Oct 24;70(17):2157-2168. doi: 10.1016/j.jacc.2017.09.005.

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.

Genetic variation at 16q24.2 is associated with small vessel stroke.
Traylor M, et al.
Ann Neurol. 2017 Mar;81(3):383-394. doi: 10.1002/ana.24840.

Genetic correlation between amyotrophic lateral sclerosis and schizophrenia.
McLaughlin RL, et al.
Nat Commun. 2017 Mar 21;8:14774. doi: 10.1038/ncomms14774.

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.

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. eCollection 2017 Mar.

Comparative effectiveness of antiepileptic drugs in patients with mesial temporal lobe epilepsy with hippocampal sclerosis.
Androsova G, et al.
Epilepsia. 2017 Oct;58(10):1734-1741. doi: 10.1111/epi.13871. Epub 2017 Aug 31.

COL4A2 is associated with lacunar ischemic stroke and deep ICH: Meta-analyses among 21,500 cases and 40,600 controls.
Rannikmäe K, et al.
Neurology. 2017 Oct 24;89(17):1829-1839. doi: 10.1212/WNL.0000000000004560. Epub 2017 Sep 27.

Does Childhood Trauma Moderate Polygenic Risk for Depression? A Meta-analysis of 5765 Subjects From the Psychiatric Genomics Consortium.
Peyrot WJ, et al.
Biol Psychiatry. 2018 Jul 15;84(2):138-147. doi: 10.1016/j.biopsych.2017.09.009. Epub 2017 Sep 21.

Identification of sequence variants influencing immunoglobulin levels.
Jonsson S, et al.
Nat Genet. 2017 Aug;49(8):1182-1191. doi: 10.1038/ng.3897. Epub 2017 Jun 19.

Graphtyper enables population-scale genotyping using pangenome graphs.
Eggertsson HP, et al.
Nat Genet. 2017 Nov;49(11):1654-1660. doi: 10.1038/ng.3964. Epub 2017 Sep 25.

Selection against variants in the genome associated with educational attainment.
Kong A, et al.
Proc Natl Acad Sci U S A. 2017 Jan 31;114(5):E727-E732. doi: 10.1073/pnas.1612113114. Epub 2017 Jan 17.

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.

Truncating mutations in RBM12 are associated with psychosis.
Steinberg Set al.
Nat Genet. 2017 Aug;49(8):1251-1254. doi: 10.1038/ng.3894. Epub 2017 Jun 19.

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

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.

Polygenic risk scores for schizophrenia and bipolar disorder associate with addiction.
Reginsson GW, et al.
Addict Biol. 2018 Jan;23(1):485-492. doi: 10.1111/adb.12496. Epub 2017 Feb 23.

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.

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.

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.

Profile of common prostate cancer risk variants in an unscreened Romanian population.
Iordache PD, et al.
J Cell Mol Med. 2018 Mar;22(3):1574-1582. doi: 10.1111/jcmm.13433. Epub 2017 Dec 20.

Loss of Cardioprotective Effects at the ADAMTS7 Locus as a Result of Gene-Smoking Interactions.
Saleheen D, et al.
Circulation. 2017 Jun 13;135(24):2336-2353. doi: 10.1161/CIRCULATIONAHA.116.022069. Epub 2017 May 1.

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.

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. Epub 2016 Oct 14.

Genetic variants associated with mosaic Y chromosome loss highlight cell cycle genes and overlap with cancer susceptibility.
Wright DJ, et al.
Nat Genet. 2017 May;49(5):674-679. doi: 10.1038/ng.3821. Epub 2017 Mar 27.

Causal Effect of Genetic Variants Associated With Body Mass Index on Multiple Sclerosis Susceptibility.
Gianfrancesco MA, et al.
Am J Epidemiol. 2017 Feb 1;185(3):162-171. doi: 10.1093/aje/kww120.

Fourteen sequence variants that associate with multiple sclerosis discovered by meta-analysis informed by genetic correlations.
Olafsson S, et al.
NPJ Genom Med. 2017 Aug 8;2:24. doi: 10.1038/s41525-017-0027-2. eCollection 2017.

Analysis of potential protein-modifying variants in 9000 endometriosis patients and 150000 controls of European ancestry.
Sapkota Y, et al.
Sci Rep. 2017 Sep 12;7(1):11380. doi: 10.1038/s41598-017-10440-9.

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.

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 Sep;49(9):1398-1402. doi: 10.1038/ng.3928. Epub 2017 Aug 7.

Genome-wide association study across European and African American ancestries identifies a SNP in DNMT3B contributing to nicotine dependence.
Hancock DB, et al.
Mol Psychiatry. 2018 Sep;23(9):1911-1919. doi: 10.1038/mp.2017.193. Epub 2017 Oct 3.

Evaluation of shared genetic aetiology between osteoarthritis and bone mineral density identifies SMAD3 as a novel osteoarthritis risk locus.
Hackinger S, et al.
Hum Mol Genet. 2017 Oct 1;26(19):3850-3858. doi: 10.1093/hmg/ddx285.

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.

Systems genetics identifies a role for Cacna2d1 regulation in elevated intraocular pressure and glaucoma susceptibility.
Chintalapudi SR, et al.
Nat Commun. 2017 Nov 24;8(1):1755. doi: 10.1038/s41467-017-00837-5.

Description of the EuroTARGET cohort: A European collaborative project on TArgeted therapy in renal cell cancer-GEnetic- and tumor-related biomarkers for response and toxicity.
van der Zanden LFM, et al.
Urol Oncol. 2017 Aug;35(8):529.e9-529.e16. doi: 10.1016/j.urolonc.2017.03.009. Epub 2017 Apr 3.

COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA.
Jensson BO, et al.
BMC Med Genet. 2017 Nov 14;18(1):129. doi: 10.1186/s12881-017-0490-8.

Genome-wide Association for Major Depression Through Age at Onset Stratification: Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium.
Power RA, et al.
Biol Psychiatry. 2017 Feb 15;81(4):325-335. doi: 10.1016/j.biopsych.2016.05.010. Epub 2016 May 24.

No genetic association between attention-deficit/hyperactivity disorder (ADHD) and Parkinson’s disease in nine ADHD candidate SNPs.
Geissler JM et al.
Atten Defic Hyperact Disord. 2017 Jun;9(2):121-127. doi: 10.1007/s12402-017-0219-8. Epub 2017 Feb 7.

 

2016

Genome-wide analyses for personality traits identify six genomic loci and show correlations with psychiatric disorders.
Lo MT, et al.
Nat Genet. 2017 Jan;49(1):152-156. doi: 10.1038/ng.3736. Epub 2016 Dec 5.

Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci.
Jones GT, et al.
Circ Res. 2017 Jan 20;120(2):341-353. doi: 10.1161/CIRCRESAHA.116.308765. Epub 2016 Nov 29.

A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape.
Ried JS, et al.
Nat Commun. 2016 Nov 23;7:13357. doi: 10.1038/ncomms13357.

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. eCollection 2016 Nov.

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.

Genetic variants linked to education predict longevity.
Marioni RE, et al.
Proc Natl Acad Sci U S A. 2016 Nov 22;113(47):13366-13371. doi: 10.1073/pnas.1605334113. Epub 2016 Oct 31.

Genome-wide analysis identifies 12 loci influencing human reproductive behavior.
Barban N, et al.
Nat Genet. 2016 Dec;48(12):1462-1472. doi: 10.1038/ng.3698. Epub 2016 Oct 31.

Identification of genomic loci associated with resting heart rate and shared genetic predictors with all-cause mortality.
Eppinga RN, et al.
Nat Genet. 2016 Dec;48(12):1557-1563. doi: 10.1038/ng.3708. Epub 2016 Oct 31.

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. Epub 2016 Oct 14.

The rate of meiotic gene conversion varies by sex and age.
Halldorsson BV, et al.
Nat Genet. 2016 Nov;48(11):1377-1384. doi: 10.1038/ng.3669. Epub 2016 Sep 19.

The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals.
Ehret GB, et al.
Nat Genet. 2016 Oct;48(10):1171-1184. doi: 10.1038/ng.3667. Epub 2016 Sep 12.

Adiposity-Dependent Regulatory Effects on Multi-tissue Transcriptomes.
Glastonbury CA, et al.
Am J Hum Genet. 2016 Sep 1;99(3):567-579. doi: 10.1016/j.ajhg.2016.07.001.

A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis.
Rivas MA, et.al
Nat Commun. 2016 Aug 9;7:12342. doi: 10.1038/ncomms12342.

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.

Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms.
van ‘t Hof FN, et al.
J Am Heart Assoc. 2016 Jul 14;5(7):e002603. doi: 10.1161/JAHA.115.002603.

Genome-wide association study identifies multiple susceptibility loci for multiple myeloma.
Mitchell JS, et al.
Nat Commun. 2016 Jul 1;7:12050. doi: 10.1038/ncomms12050.

GORpipe: a query tool for working with sequence data based on a Genomic Ordered Relational (GOR) architecture.
Guðbjartsson H, et al.
Bioinformatics. 2016 Oct 15;32(20):3081-3088. doi: 10.1093/bioinformatics/btw199. Epub 2016 Jun 23.

Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine.
Gormley P, et al.
Nat Genet. 2016 Aug;48(8):856-66. doi: 10.1038/ng.3598. Epub 2016 Jun 20.

Genome-wide Association for Major Depression Through Age at Onset Stratification: Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium.
Power RA, et al.
Biol Psychiatry. 2017 Feb 15;81(4):325-335. doi: 10.1016/j.biopsych.2016.05.010. Epub 2016 May 24.

Variant ASGR1 Associated with a Reduced Risk of Coronary Artery Disease.
Nioi P, et al.
N Engl J Med. 2016 Jun 2;374(22):2131-41. doi: 10.1056/NEJMoa1508419. Epub 2016 May 18. 

Genome-wide association study identifies 74 loci associated with educational attainment.
Okbay A, et al.
Nature. 2016 May 26;533(7604):539-42. doi: 10.1038/nature17671. Epub 2016 May 11.

Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders.
Isles AR, et al.
PLoS Genet. 2016 May 6;12(5):e1005993. doi: 10.1371/journal.pgen.1005993. eCollection 2016 May.

Variants with large effects on blood lipids and the role of cholesterol and triglycerides in coronary disease.
Helgadottir A, et al.
Nat Genet. 2016 Jun;48(6):634-9. doi: 10.1038/ng.3561. Epub 2016 May 2.

Identification of Common Genetic Variants Influencing Spontaneous Dizygotic Twinning and Female Fertility.
Mbarek H, et al.
Am J Hum Genet. 2016 May 5;98(5):898-908. doi: 10.1016/j.ajhg.2016.03.008. Epub 2016 Apr 28.

Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.
Fehringer G, et al.
Cancer Res. 2016 Sep 1;76(17):5103-14. doi: 10.1158/0008-5472.CAN-15-2980. Epub 2016 Apr 20.

Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses.
Okbay A, et al.
Nat Genet. 2016 Jun;48(6):624-33. doi: 10.1038/ng.3552. Epub 2016 Apr 18.

Physical and neurobehavioral determinants of reproductive onset and success.
Day FR, et al.
Nat Genet. 2016 Jun;48(6):617-623. doi: 10.1038/ng.3551. Epub 2016 Apr 18.

A rare missense mutation in CHRNA4 associates with smoking behavior and its consequences.
Thorgeirsson et al.
Mol Psychiatry. 2016 May;21(5):594-600. doi: 10.1038/mp.2016.13. Epub 2016 Mar 8.

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.
Lesage S, et al.
Am J Hum Genet. 2016 Mar 3;98(3):500-513. doi: 10.1016/j.ajhg.2016.01.014.

Gene co-expression analysis identifies brain regions and cell types involved in migraine pathophysiology: a GWAS-based study using the Allen Human Brain Atlas.
Eising E, et al.
Hum Genet. 2016 Apr;135(4):425-439. doi: 10.1007/s00439-016-1638-x. Epub 2016 Feb 22.

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.

Schizophrenia risk from complex variation of complement component 4.
Sekar A, et al.
Nature. 2016 Feb 11;530(7589):177-83. doi: 10.1038/nature16549. Epub 2016 Jan 27.

Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.
Pattaro C, et al.
Nat Commun. 2016 Jan 21;7:10023. doi: 10.1038/ncomms10023.

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.

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.
Figueroa JD, et al.
Hum Mol Genet. 2016 Mar 15;25(6):1203-14. doi: 10.1093/hmg/ddv492. Epub 2016 Jan 4.

Polygenic risk of ischemic stroke is associated with cognitive ability.
Harris SE, et al.
Neurology. 2016 Feb 16;86(7):611-8. doi: 10.1212/WNL.0000000000002306. Epub 2015 Dec 22.

Loci associated with ischaemic stroke and its subtypes (SiGN): a genome-wide association study.
NINDS Stroke Genetics Network (SiGN); et.al
Lancet Neurol. 2016 Feb;15(2):174-184. doi: 10.1016/S1474-4422(15)00338-5. Epub 2015 Dec 19.

Genome-wide association study reveals greater polygenic loading for schizophrenia in cases with a family history of illness.
Bigdeli TB, et al.
Am J Med Genet B Neuropsychiatr Genet. 2016 Mar;171B(2):276-89. doi: 10.1002/ajmg.b.32402. Epub 2015 Dec 11.

Gene-based pleiotropy across migraine with aura and migraine without aura patient groups.
Zhao H, et al.
Cephalalgia. 2016 Jun;36(7):648-57. doi: 10.1177/0333102415591497. Epub 2015 Dec 8.

The influence of genetic constitution on migraine drug responses.
Christensen AF, et al.
Cephalalgia. 2016 Jun;36(7):624-39. doi: 10.1177/0333102415610874. Epub 2015 Oct 26.

Association of AADAC Deletion and Gilles de la Tourette Syndrome in a Large European Cohort.
Bertelsen B, et al.
Biol Psychiatry. 2016 Mar 1;79(5):383-391. doi: 10.1016/j.biopsych.2015.08.027. Epub 2015 Sep 3.

Two Rare Mutations in the COL1A2 Gene Associate With Low Bone Mineral Density and Fractures in Iceland.
Styrkarsdottir U, et al.
J Bone Miner Res. 2016 Jan;31(1):173-9. doi: 10.1002/jbmr.2604. Epub 2015 Aug 29.

2015

Neuropathic pain phenotyping by international consensus (NeuroPPIC) for genetic studies: a NeuPSIG systematic review, Delphi survey, and expert panel recommendations.
van Hecke O et al.
Pain 2015 Nov;156(11):2337-53. doi: 10.1097/j.pain.0000000000000335. 

Loci associated with ischaemic stroke and its subtypes (SiGN): a genome-wide association study.
NINDS Stroke Genetics Network (SiGN); et al.
Lancet Neurol. 2016 Feb;15(2):174-184. doi: 10.1016/S1474-4422(15)00338-5. Epub 2015 Dec 19.

Polygenic risk of ischemic stroke is associated with cognitive ability.
Harris SE et al.
Neurology. 2016 Feb 16;86(7):611-8. doi: 10.1212/WNL.0000000000002306. Epub 2015 Dec 22 

Genome-wide association study reveals greater polygenic loading for schizophrenia in cases with a family history of illness.
Bigdeli TB et al.
Am J Med Genet B Neuropsychiatr Genet. 2016 Mar;171B(2):276-89. doi: 10.1002/ajmg.b.32402. Epub 2015 Dec 11.

Gene-based pleiotropy across migraine with aura and migraine without aura patient groups.
Zhao H et al.
Cephalalgia. 2016 Jun;36(7):648-57. doi: 10.1177/0333102415591497. Epub 2015 Dec 8.

Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci.
Gaulton KJ et al.
Nat Genet. 2015 Dec;47(12):1415-25. doi: 10.1038/ng.3437. Epub 2015 Nov 9.

Contrasting genetic architectures of schizophrenia and other complex diseases using fast variance-components analysis.
Loh PR et al.
Nat Genet. 2015 Dec;47(12):1385-92. doi: 10.1038/ng.3431. Epub 2015 Nov 2.

The influence of genetic constitution on migraine drug responses.
Christensen AF et al.
Cephalalgia. 2016 Jun;36(7):624-39. doi: 10.1177/0333102415610874. Epub 2015 Oct 26.

The effect of SNPs on expression levels in Nimblegen RNA expression microarrays.
Lund SH et al.
Int J Data Min Bioinform. 2015;12(1):1-13. doi: 10.1504/ijdmb.2015.068949.

Association of AADAC Deletion and Gilles de la Tourette Syndrome in a Large European Cohort.
Bertelsen B et al.
Biol Psychiatry. 2016 Mar 1;79(5):383-391. doi: 10.1016/j.biopsych.2015.08.027. Epub 2015 Sep 3

Genome-wide meta-analysis reveals common splice site acceptor variant in CHRNA4 associated with nicotine dependence.
Hancock DB et al.
Transl Psychiatry. 2015 Oct 6;5(10):e651. doi: 10.1038/tp.2015.149.

Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores.
Vilhjálmsson BJ et al.
Am J Hum Genet. 2015 Oct 1;97(4):576-92. doi: 10.1016/j.ajhg.2015.09.001.

The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.
Winkler TW et al.
PLoS Genet. 2015 Oct 1;11(10):e1005378. doi: 10.1371/journal.pgen.1005378. eCollection 2015 Oct.

Causal mechanisms and balancing selection inferred from genetic associations with polycystic ovary syndrome.
Day FR et al.
Nat Commun. 2015 Sep 29;6:8464. doi: 10.1038/ncomms9464.

Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair.
Day FR et al.
Nat Genet. 2015 Nov;47(11):1294-1303. doi: 10.1038/ng.3412. Epub 2015 Sep 28.

Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture.
Zheng HF et al.
Nature. 2015 Oct 1;526(7571):112-7. doi: 10.1038/nature14878. Epub 2015 Sep 14.

Predicting facial characteristics from complex polygenic variations.

Fagertun J et al.
Forensic Sci Int Genet. 2015 Nov;19:263-268. doi: 10.1016/j.fsigen.2015.08.004. Epub 2015 Aug 17.

A Splice Region Variant in LDLR Lowers Non-high Density Lipoprotein Cholesterol and Protects against Coronary Artery Disease.
Gretarsdottir S et al.
PLoS Genet. 2015 Sep 1;11(9):e1005379. doi: 10.1371/journal.pgen.1005379. eCollection 2015 Sep.

Common and rare variants associated with kidney stones and biochemical traits.
Oddsson A et al.
Nat Commun. 2015 Aug 14;6:7975. doi: 10.1038/ncomms8975.

Rare coding variants and X-linked loci associated with age at menarche.
Lunetta KL et al.
Nat Commun. 2015 Aug 4;6:7756. doi: 10.1038/ncomms8756.

Two Rare Mutations in the COL1A2 Gene Associate With Low Bone Mineral Density and Fractures in Iceland.
Styrkarsdottir U et al
J Bone Miner Res. 2016 Jan;31(1):173-9. doi: 10.1002/jbmr.2604. Epub 2015 Aug 29.

Heterozygote carriers for CNVs in PARK2 are at increased risk of Parkinson’s disease.
Huttenlocher J et al.
Hum Mol Genet. 2015 Oct 1;24(19):5637-43. doi: 10.1093/hmg/ddv277. Epub 2015 Jul 17.

Discovery and Fine-Mapping of Glycaemic and Obesity-Related Trait Loci Using High-Density Imputation.
Horikoshi M et al.
PLoS Genet. 2015 Jul 1;11(7):e1005230. doi: 10.1371/journal.pgen.1005230. eCollection 2015 Jul.

Loss-of-function variants in ATM confer risk of gastric cancer.
Helgason H et al.
Nat Genet. 2015 Aug;47(8):906-10. doi: 10.1038/ng.3342. Epub 2015 Jun 22.

Polygenic risk scores for schizophrenia and bipolar disorder predict creativity.
Power RA et al.
Nat Neurosci. 2015 Jul;18(7):953-5. doi: 10.1038/nn.4040. Epub 2015 Jun 8

Genetic Differences in the Immediate Transcriptome Response to Stress Predict Risk-Related Brain Function and Psychiatric Disorders.
Arloth J et al.
Neuron. 2015 Jun 3;86(5):1189-202. doi: 10.1016/j.neuron.2015.05.034.

Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma.
Swaminathan B et al.
Nat Commun. 2015 May 26;6:7213. doi: 10.1038/ncomms8213.

Sequence variants from whole genome sequencing a large group of Icelanders.
Gudbjartsson DF et al.
Sci Data. 2015 Mar 25;2:150011. doi: 10.1038/sdata.2015.11. eCollection 2015.

The impact of low-frequency and rare variants on lipid levels.
Surakka I et al.
Nat Genet. 2015 Jun;47(6):589-97. doi: 10.1038/ng.3300. Epub 2015 May 11.

Shared genetic basis for migraine and ischemic stroke: A genome-wide analysis of common variants.
Malik R et al.
Neurology. 2015 May 26;84(21):2132-45. doi: 10.1212/WNL.0000000000001606. Epub 2015 May 1.

The association between lower educational attainment and depression owing to shared genetic effects? Results in ~25,000 subjects.
Peyrot WJ et al.
Mol Psychiatry. 2015 Jun;20(6):735-43. doi: 10.1038/mp.2015.50. Epub 2015 Apr 28.

Common sequence variants associated with coronary artery disease correlate with the extent of coronary atherosclerosis.
Bjornsson E et al.
Arterioscler Thromb Vasc Biol. 2015 Jun;35(6):1526-31. doi: 10.1161/ATVBAHA.114.304985. Epub 2015 Apr 16.

Polygenic Overlap Between C-Reactive Protein, Plasma Lipids, and Alzheimer Disease.
Desikan RS et al.
Circulation. 2015 Jun 9;131(23):2061-2069. doi: 10.1161/CIRCULATIONAHA.115.015489. Epub 2015 Apr 10.

New basal cell carcinoma susceptibility loci.
Stacey SN et al.
Nat Commun. 2015 Apr 9;6:6825. doi: 10.1038/ncomms7825.

Genetically determined height and coronary artery disease.
Nelson CP et al.
N Engl J Med. 2015 Apr 23;372(17):1608-18. doi: 10.1056/NEJMoa1404881. Epub 2015 Apr 8.

First rounders podcast: Kari Stefansson.
Stefansson K.
Nat Biotechnol. 2015 Apr;33(4):333. doi: 10.1038/nbt.3186.

Large-scale whole-genome sequencing of the Icelandic population.
Gudbjartsson DF et al.
Nat Genet. 2015 May;47(5):435-44. doi: 10.1038/ng.3247. Epub 2015 Mar 25.

The Y-chromosome point mutation rate in humans.
Helgason A et al.
Nat Genet. 2015 May;47(5):453-7. doi: 10.1038/ng.3171. Epub 2015 Mar 25.

Loss-of-function variants in ABCA7 confer risk of Alzheimer’s disease.
Steinberg S et al.
Nat Genet. 2015 May;47(5):445-7. doi: 10.1038/ng.3246. Epub 2015 Mar 25.

Identification of a large set of rare complete human knockouts.
Sulem P et al
Nat Genet. 2015 May;47(5):448-52. doi: 10.1038/ng.3243. Epub 2015 Mar 25. 

NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases.
Nalls MA, et al.
Neurobiol Aging. 2015 Mar;36(3):1605.e7-12. doi: 10.1016/j.neurobiolaging.2014.07.028. Epub 2014 Aug 4.

Genetic overlap between Alzheimer’s disease and Parkinson’s disease at the MAPT locus.
Desikan RS et al.
Mol Psychiatry. 2015 Dec;20(12):1588-95. doi: 10.1038/mp.2015.6. Epub 2015 Feb 17.

Genetic studies of body mass index yield new insights for obesity biology.
Locke AE et al.
Nature. 2015 Feb 12;518(7538):197-206. doi: 10.1038/nature14177.

New genetic loci link adipose and insulin biology to body fat distribution.
Shungin D et al.
Nature. 2015 Feb 12;518(7538):187-196. doi: 10.1038/nature14132

LD Score regression distinguishes confounding from polygenicity in genome-wide association studies.
Bulik-Sullivan BK et al.
Nat Genet. 2015 Mar;47(3):291-5. doi: 10.1038/ng.3211. Epub 2015 Feb 2

Association analysis of 29,956 individuals confirms that a low-frequency variant at CCND2 halves the risk of type 2 diabetes by enhancing insulin secretion.
Yaghootkar H et al.
Diabetes. 2015 Jun;64(6):2279-85. doi: 10.2337/db14-1456. Epub 2015 Jan 20.

Seasonality shows evidence for polygenic architecture and genetic correlation with schizophrenia and bipolar disorder.
Byrne EM et al.
J Clin Psychiatry. 2015 Feb;76(2):128-34. doi: 10.4088/JCP.14m08981.

Genome wide association study identifies variants in NBEA associated with migraine in bipolar disorder.
Jacobsen KK et al.
J Affect Disord. 2015 Feb 1;172:453-61. doi: 10.1016/j.jad.2014.10.004. Epub 2014 Oct 12.

NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases.
Nalls MA et al.
Neurobiol Aging. 2015 Mar;36(3):1605.e7-12. doi: 10.1016/j.neurobiolaging.2014.07.028. Epub 2014 Aug 4.

Concordance of genetic risk across migraine subgroups: Impact on current and future genetic association studies.
Nyholt DR et al.
Cephalalgia. 2015 May;35(6):489-99. doi: 10.1177/0333102414547784. Epub 2014 Sep 1.

  

2014

Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases.
Gusev A, et al.
Am J Hum Genet. 2014 Nov 6;95(5):535-52. doi: 10.1016/j.ajhg.2014.10.004. Epub 2014 Nov 6.

Genome wide association study identifies variants in NBEA associated with migraine in bipolar disorder.
Jacobsen KK, et al.
J Affect Disord. 2015 Feb 1;172:453-61. doi: 10.1016/j.jad.2014.10.004. Epub 2014 Oct 12.

Defining the role of common variation in the genomic and biological architecture of adult human height.
Wood AR, et al.
Nat Genet. 2014 Nov;46(11):1173-86. doi: 10.1038/ng.3097. Epub 2014 Oct 5.

Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.
Springelkamp H, et al.
Nat Commun. 2014 Sep 22;5:4883. doi: 10.1038/ncomms5883.

Concordance of genetic risk across migraine subgroups: Impact on current and future genetic association studies.
Nyholt DR; et al.
Cephalalgia. 2015 May;35(6):489-99. doi: 10.1177/0333102414547784. Epub 2014 Sep 1.

Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma.
Hysi PG, et al.
Nat Genet. 2014 Oct;46(10):1126-1130. doi: 10.1038/ng.3087. Epub 2014 Aug 31.

Rare mutations associating with serum creatinine and chronic kidney disease.
Sveinbjornsson G, et al.
Hum Mol Genet. 2014 Dec 20;23(25):6935-43. doi: 10.1093/hmg/ddu399. Epub 2014 Jul 31.

Nationwide study on hypertrophic cardiomyopathy in Iceland: evidence of a MYBPC3 founder mutation.
Adalsteinsdottir B, et al.
Circulation. 2014 Sep 30;130(14):1158-67. doi: 10.1161/CIRCULATIONAHA.114.011207. Epub 2014 Jul 30.

Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson’s disease.
Nalls MA, et al.
Nat Genet. 2014 Sep;46(9):989-93. doi: 10.1038/ng.3043. Epub 2014 Jul 27

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
Perry JR, et al.
Nature. 2014 Oct 2;514(7520):92-97. doi: 10.1038/nature13545. Epub 2014 Jul 23.

Biological insights from 108 schizophrenia-associated genetic loci.
Schizophrenia Working Group of the Psychiatric Genomics Consortium.
Nature. 2014 Jul 24;511(7510):421-7. doi: 10.1038/nature13595. Epub 2014 Jul 22.

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
Arking DE, et al.
Nat Genet. 2014 Aug;46(8):826-36. doi: 10.1038/ng.3014. Epub 2014 Jun 22.

A method for detecting long non-coding RNAs with tiled RNA expression microarrays.
Lund SH, et al.
PLoS One. 2014 Jun 17;9(6):e99899. doi: 10.1371/journal.pone.0099899. eCollection 2014.

Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer.
Wang Y, et al.
Nat Genet. 2014 Jul;46(7):736-41. doi: 10.1038/ng.3002. Epub 2014 Jun 1.

Identification of pathways for bipolar disorder: a meta-analysis.
Nurnberger JI Jr, et al.
JAMA Psychiatry. 2014 Jun;71(6):657-64. doi: 10.1001/jamapsychiatry.2014.176.

Genome-wide association study yields variants at 20p12.2 that associate with urinary bladder cancer.
Rafnar T, et al.
Hum Mol Genet. 2014 Oct 15;23(20):5545-57. doi: 10.1093/hmg/ddu264. Epub 2014 May 26.

Severe osteoarthritis of the hand associates with common variants within the ALDH1A2 gene and with rare variants at 1p31.
Styrkarsdottir U, et al.
Nat Genet. 2014 May;46(5):498-502. doi: 10.1038/ng.2957. Epub 2014 Apr 13.

Assessment of osteoarthritis candidate genes in a meta-analysis of nine genome-wide association studies.
Rodriguez-Fontenla C, et al.
Arthritis Rheumatol. 2014 Apr;66(4):940-9. doi: 10.1002/art.38300.

Genome-wide association meta-analysis of human longevity identifies a novel locus conferring survival beyond 90 years of age.
Deelen J, et al.
Hum Mol Genet. 2014 Aug 15;23(16):4420-32. doi: 10.1093/hmg/ddu139. Epub 2014 Mar 31

Loss-of-function mutations in SLC30A8 protect against type 2 diabetes.
Flannick J, et al..
Nat Genet. 2014 Apr;46(4):357-63. doi: 10.1038/ng.2915. Epub 2014 Mar 2.

Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium; et al.
Nat Genet. 2014 Mar;46(3):234-44. doi: 10.1038/ng.2897. Epub 2014 Feb 9.

The germline sequence variant rs2736100_C in TERT associates with myeloproliferative neoplasms.
Oddsson A, et al.
Leukemia. 2014 Jun;28(6):1371-4. doi: 10.1038/leu.2014.48. Epub 2014 Jan 30.

Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes.
Steinthorsdottir V, et al.
Nat Genet. 2014 Mar;46(3):294-8. doi: 10.1038/ng.2882. Epub 2014 Jan 26.

Leveraging cross-species transcription factor binding site patterns: from diabetes risk loci to disease mechanisms.
Claussnitzer M, et al.
Cell. 2014 Jan 16;156(1-2):343-58. doi: 10.1016/j.cell.2013.10.058.

Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.
Stacey SN, et al.
Hum Mol Genet. 2014 Jun 1;23(11):3045-53. doi: 10.1093/hmg/ddt671. Epub 2014 Jan 8.

Susceptibility loci for pigmentation and melanoma in relation to Parkinson’s disease.
Dong J, et al.
Neurobiol Aging. 2014 Jun;35(6):1512.e5-1512.e10. doi: 10.1016/j.neurobiolaging.2013.12.020. Epub 2013 Dec 27.

CNVs conferring risk of autism or schizophrenia affect cognition in controls.
Stefansson H, et al..
Nature. 2014 Jan 16;505(7483):361-6. doi: 10.1038/nature12818. Epub 2013 Dec 18.

A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus.
Oei L, et al.
J Med Genet. 2014 Feb;51(2):122-31. doi: 10.1136/jmedgenet-2013-102064. Epub 2013 Dec 16.

Blocking the EP3 receptor for PGE2 with DG-041 decreases thrombosis without impairing haemostatic competence.
Tilly P, et al.
Cardiovasc Res. 2014 Mar 1;101(3):482-91. doi: 10.1093/cvr/cvt276. Epub 2013 Dec 9.

Common and low-frequency variants associated with genome-wide recombination rate.
Kong A, et al.
Nat Genet. 2014 Jan;46(1):11-6. doi: 10.1038/ng.2833. Epub 2013 Nov 24.

Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
Dichgans M, et al.
Stroke. 2014 Jan;45(1):24-36. doi: 10.1161/STROKEAHA.113.002707. Epub 2013 Nov 21.

A mouse model that recapitulates cardinal features of the 15q13.3 microdeletion syndrome including schizophrenia- and epilepsy-related alterations.
Fejgin K, et al..
Biol Psychiatry. 2014 Jul 15;76(2):128-37. doi: 10.1016/j.biopsych.2013.08.014. Epub 2013 Oct 3.

Genetic comorbidities in Parkinson’s disease.
Nalls MA, et al.
Hum Mol Genet. 2014 Feb 1;23(3):831-41. doi: 10.1093/hmg/ddt465. Epub 2013 Sep 20.

A meta-analysis of genome-wide association studies identifies novel variants associated with osteoarthritis of the hip.
Evangelou E, et al.
Ann Rheum Dis. 2014 Dec;73(12):2130-6. doi: 10.1136/annrheumdis-2012-203114. Epub 2013 Aug 29.

Convergent lines of evidence support CAMKK2 as a schizophrenia susceptibility gene.
Luo XJ, et al.
Mol Psychiatry. 2014 Jul;19(7):774-83. doi: 10.1038/mp.2013.103. Epub 2013 Aug 20.

Genome-wide association study identifies three novel loci for type 2 diabetes.
Hara K, et al.
Hum Mol Genet. 2014 Jan 1;23(1):239-46. doi: 10.1093/hmg/ddt399. Epub 2013 Aug 14.

The Adult Reading History Questionnaire (ARHQ) in Icelandic: Psychometric Properties and Factor Structure.
Bjornsdottir G, et al.
J Learn Disabil. 2014 Nov-Dec;47(6):532-42. doi: 10.1177/0022219413478662. Epub 2013 Mar 1.

Common variant at 16p11.2 conferring risk of psychosis.
Steinberg S, et al.
Mol Psychiatry. 2014 Jan;19(1):108-14. doi: 10.1038/mp.2012.157. Epub 2012 Nov 20.

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.
Bjornsdottir G, et al.
Pers Individ Dif. 2014 Feb; 58:10.1016 doi: 10.1016/j.paid.2013.10.010.

 

2013

Discovery and refinement of loci associated with lipid levels.
Willer CJ, et al.
Nat Genet. 2013 Nov;45(11):1274-1283. doi: 10.1038/ng.2797. Epub 2013 Oct 6.

Genome-wide meta-analysis identifies new susceptibility loci for migraine.
Anttila V, et al.
Nat Genet. 2013 Aug;45(8):912-917. doi: 10.1038/ng.2676. Epub 2013 Jun 23.

Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
Ripke S, et al.
Nat Genet. 2013 Oct;45(10):1150-9. doi: 10.1038/ng.2742. Epub 2013 Aug 25.

Seven new loci associated with age-related macular degeneration.
Fritsche LG, et al.
Nat Genet. 2013 Apr;45(4):433-9, 439e1-2. doi: 10.1038/ng.2578. Epub 2013 Mar 3.

Large-scale association analysis identifies new risk loci for coronary artery disease.
CARDIoGRAMplusC4D Consortium, et al.
Nat Genet. 2013 Jan;45(1):25-33. doi: 10.1038/ng.2480. Epub 2012 Dec 2.

Common variants associated with plasma triglycerides and risk for coronary artery disease.
Do R, et al.
Nat Genet. 2013 Nov;45(11):1345-52. doi: 10.1038/ng.2795. Epub 2013 Oct 6.

Causal relationship between obesity and vitamin D status: bi-directional Mendelian randomization analysis of multiple cohorts.
Vimaleswaran K, et al.
PLoS Med. 2013;10(2):e1001383. doi: 10.1371/journal.pmed.1001383. Epub 2013 Feb 5.

Variant of TREM2 associated with the risk of Alzheimer’s disease.
Jonsson T, et al.
N Engl J Med. 2013 Jan 10;368(2):107-16. doi: 10.1056/NEJMoa1211103. Epub 2012 Nov 14.

A mega-analysis of genome-wide association studies for major depressive disorder.
Major Depressive Disorder Working Group of the Psychiatric GWAS Consortium, et al.
Mol Psychiatry. 2013 Apr;18(4):497-511. doi: 10.1038/mp.2012.21. Epub 2012 Apr 3.

Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.
den Hoed M, et al.
Nat Genet. 2013 Jun;45(6):621-31. doi: 10.1038/ng.2610. Epub 2013 Apr 14.

Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
Berndt SI, et al.
Nat Genet. 2013 May;45(5):501-12. doi: 10.1038/ng.2606. Epub 2013 Apr 7.

Genetic architecture of vitamin B12 and folate levels uncovered applying deeply sequenced large datasets.
Grarup N, et al.
PLoS Genet. 2013 Jun;9(6):e1003530. doi: 10.1371/journal.pgen.1003530. Epub 2013 Jun 6.

TREM2 and neurodegenerative disease.
Jonsson T, et al.
N Engl J Med. 2013 Oct 17;369(16):1568-9. doi: 10.1056/NEJMc1306509.

TCF4 (e2-2; ITF2): a schizophrenia-associated gene with pleiotropic effects on human disease.
Navarrete K, et al.
Am J Med Genet B Neuropsychiatr Genet. 2013 Jan;162B(1):1-16. doi: 10.1002/ajmg.b.32109. Epub 2012 Nov 5.

Human genetics as a foundation for innovative drug development.
Kamb A, et al.
Nat Biotechnol. 2013 Nov;31(11):975-8. doi: 10.1038/nbt.2732.

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

A common biological basis of obesity and nicotine addiction.
Thorgeirsson TE, et al.
Transl Psychiatry. 2013 Oct 1;3(10):e308. doi: 10.1038/tp.2013.81.

A variant in FTO shows association with melanoma risk not due to BMI.
Iles MM, et al.
Nat Genet. 2013 Apr;45(4):428-32, 432e1. doi: 10.1038/ng.2571. Epub 2013 Mar 3.

A variant in LDLR is associated with abdominal aortic aneurysm.
Bradley DT, et al.
Circ Cardiovasc Genet. 2013 Oct;6(5):498-504. doi: 10.1161/CIRCGENETICS.113.000165. Epub 2013 Sep 17.

A common variant at 8q24.21 is associated with renal cell cancer.
Gudmundsson J, et al.
Nat Commun. 2013;4:2776. doi: 10.1038/ncomms3776.

Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.
Bønnelykke K, et al.
Nat Genet. 2013 Aug;45(8):902-906. doi: 10.1038/ng.2694. Epub 2013 Jun 30.

Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
Lu Y, et al.
Nat Genet. 2013 Feb;45(2):155-63. doi: 10.1038/ng.2506. Epub 2013 Jan 6.

A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway.
Praetorius C, et al.
Cell. 2013 Nov 21;155(5):1022-33. doi: 10.1016/j.cell.2013.10.022.

Ischemic stroke is associated with the ABO locus: the EuroCLOT study.
Williams FM, et al.
Ann Neurol. 2013 Jan;73(1):16-31. doi: 10.1002/ana.23838.

Schizophrenia genetic variants are not associated with intelligence.
van Scheltinga AF, et al.
Psychol Med. 2013 Dec;43(12):2563-70. doi: 10.1017/S0033291713000196. Epub 2013 Feb 15.

The role of adiposity in cardiometabolic traits: a Mendelian randomization analysis.
Fall T, et al.
PLoS Med. 2013;10(6):e1001474. doi: 10.1371/journal.pmed.1001474. Epub 2013 Jun 25.

Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits.
Randall JC, et al.
PLoS Genet. 2013 Jun;9(6):e1003500. doi: 10.1371/journal.pgen.1003500. Epub 2013 Jun 6.

Rare genomic structural variants in complex disease: lessons from the replication of associations with obesity.
Walters RG, et al.
PLoS One. 2013;8(3):e58048. doi: 10.1371/journal.pone.0058048. Epub 2013 Mar 12.

A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration.
Helgason H, et al.
Nat Genet. 2013 Nov;45(11):1371-4. doi: 10.1038/ng.2740. Epub 2013 Sep 15

A genome-wide association study of early menopause and the combined impact of identified variants.
Perry JR, et al.
Hum Mol Genet. 2013 Apr 1;22(7):1465-72. doi: 10.1093/hmg/dds551. Epub 2013 Jan 9.

A sequence variant associated with sortilin-1 (SORT1) on 1p13.3 is independently associated with abdominal aortic aneurysm.
Jones GT, et al.
Hum Mol Genet. 2013 Jul 15;22(14):2941-7. doi: 10.1093/hmg/ddt141. Epub 2013 Mar 27.

Common genetic variation at the IL1RL1 locus regulates IL-33/ST2 signaling.
Ho JE, et al.
J Clin Invest. 2013 Oct;123(10):4208-18. doi: 10.1172/JCI67119. Epub 2013 Sep 3.

Androgenetic alopecia: identification of four genetic risk loci and evidence for the contribution of WNT signaling to its etiology.
Heilmann S, et al.
J Invest Dermatol. 2013 Jun;133(6):1489-96. doi: 10.1038/jid.2013.43. Epub 2013 Jan 28.

Meta-analysis of gene-level associations for rare variants based on single-variant statistics.
Hu YJ, et al.
Am J Hum Genet. 2013 Aug 8;93(2):236-48. doi: 10.1016/j.ajhg.2013.06.011. Epub 2013 Jul 25.

A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson’s disease.
Holmans P, et al.
Hum Mol Genet. 2013 Mar 1;22(5):1039-49. doi: 10.1093/hmg/dds492. Epub 2012 Dec 7.

The SH2B1 obesity locus and abnormal glucose homeostasis: lack of evidence for association from a meta-analysis in individuals of European ancestry.
Prudente S, et al.
Nutr Metab Cardiovasc Dis. 2013 Nov;23(11):1043-9. doi: 10.1016/j.numecd.2013.05.001. Epub 2013 Oct 5.

Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India.
Saxena R, et al.
Diabetes. 2013 May;62(5):1746-55. doi: 10.2337/db12-1077. Epub 2013 Jan 8.

  

2012

Seventy-five genetic loci influencing the human red blood cell.
van der Harst P, et.al.
Nature. 2012 Dec 20;492(7429):369-75. doi: 10.1038/nature11677. Epub 2012 Dec 5.

A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer.
Gudmundsson J, et.al.
Nat Genet. 2012 Dec;44(12):1326-9. doi: 10.1038/ng.2437. Epub 2012 Oct 28.

Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies.
Traylor M, et.al.
Lancet Neurol. 2012 Nov;11(11):951-62. doi: 10.1016/S1474-4422(12)70234-X. Epub 2012 Oct 5.

Genetic schizophrenia risk variants jointly modulate total brain and white matter volume.
Terwisscha van Scheltinga AF, et.al..
Biol Psychiatry. 2013 Mar 15;73(6):525-31. doi: 10.1016/j.biopsych.2012.08.017. Epub 2012 Oct 3.

Assessment of gene-by-sex interaction effect on bone mineral density.
Liu CT, et.al.
J Bone Miner Res. 2012 Oct;27(10):2051-64. doi: 10.1002/jbmr.1679.

FTO genotype is associated with phenotypic variability of body mass index.
Yang J, et.al.
Nature. 2012 Oct 11;490(7419):267-72. doi: 10.1038/nature11401. Epub 2012 Sep 16.

Mapping cis- and trans-regulatory effects across multiple tissues in twins.
Grundberg E, et.al.
Nat Genet. 2012 Oct;44(10):1084-9. doi: 10.1038/ng.2394. Epub 2012 Sep 2.

Common variants at 6p21.1 are associated with large artery atherosclerotic stroke.
Holliday EG, et.al.
Nat Genet. 2012 Oct;44(10):1147-51. doi: 10.1038/ng.2397. Epub 2012 Sep 2.

A direct characterization of human mutation based on microsatellites.
Sun JX, et.al.
Nat Genet. 2012 Oct;44(10):1161-5. doi: 10.1038/ng.2398. Epub 2012 Aug 23.

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

Apolipoprotein(a) genetic sequence variants associated with systemic atherosclerosis and coronary atherosclerotic burden but not with venous thromboembolism.
Helgadottir A, et.al.
J Am Coll Cardiol. 2012 Aug 21;60(8):722-9. doi: 10.1016/j.jacc.2012.01.078.

Influence of common genetic variation on lung cancer risk: meta-analysis of 14 900 cases and 29 485 controls.
Timofeeva MN, et.al.
Hum Mol Genet. 2012 Nov 15;21(22):4980-95. doi: 10.1093/hmg/dds334. Epub 2012 Aug 16.

Using genome-wide complex trait analysis to quantify ‘missing heritability’ in Parkinson’s disease.
Keller MF, et.al.
Hum Mol Genet. 2012 Nov 15;21(22):4996-5009. doi: 10.1093/hmg/dds335. Epub 2012 Aug 13.

Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways.
Scott RA, et.al.
Nat Genet. 2012 Sep;44(9):991-1005. doi: 10.1038/ng.2385. Epub 2012 Aug 12.

Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes.
Morris AP, et.al.
Nat Genet. 2012 Sep;44(9):981-90. doi: 10.1038/ng.2383. Epub 2012 Aug 12.

Use of support vector machines for disease risk prediction in genome-wide association studies: concerns and opportunities.
Mittag F, et.al.
Hum Mutat. 2012 Dec;33(12):1708-18. doi: 10.1002/humu.22161. Epub 2012 Aug 3.

A mutation in APP protects against Alzheimer’s disease and age-related cognitive decline.
Jonsson T, et.al.
Nature. 2012 Aug 2;488(7409):96-9. doi: 10.1038/nature11283.

Increased genetic vulnerability to smoking at CHRNA5 in early-onset smokers.
Hartz SM, et.al.
Arch Gen Psychiatry. 2012 Aug;69(8):854-60. doi: 10.1001/archgenpsychiatry.2012.124.

Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study.
arcOGEN Consortium; et.al.
Lancet. 2012 Sep 1;380(9844):815-23. doi: 10.1016/S0140-6736(12)60681-3. Epub 2012 Jul 3.

Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study.
Voight BF, et.al.
Lancet. 2012 Aug 11;380(9841):572-80. doi: 10.1016/S0140-6736(12)60312-2. Epub 2012 May 17.

A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
Manning AK, et.al.
Nat Genet. 2012 May 13;44(6):659-69. doi: 10.1038/ng.2274.

Replication study and meta-analysis in European samples supports association of the 3p21.1 locus with bipolar disorder.
Vassos E, et.al.
Biol Psychiatry. 2012 Oct 15;72(8):645-50. doi: 10.1016/j.biopsych.2012.02.040. Epub 2012 May 5.

Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases.
Li R, et.al.
PLoS Genet. 2012 May;8(5):e1002746. doi: 10.1371/journal.pgen.1002746. Epub 2012 May 31.

Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases.
Perry JR, et.al.
PLoS Genet. 2012 May;8(5):e1002741. doi: 10.1371/journal.pgen.1002741. Epub 2012 May 31.

Variants in DENND1A are associated with polycystic ovary syndrome in women of European ancestry.
Welt CK, et al.
J Clin Endocrinol Metab. 2012 Jul;97(7):E1342-7. doi: 10.1210/jc.2011-3478. Epub 2012 Apr 30.

Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
Estrada K, et.al..
Nat Genet. 2012 Apr 15;44(5):491-501. doi: 10.1038/ng.2249.

A mega-analysis of genome-wide association studies for major depressive disorder.
Major Depressive Disorder Working Group of the Psychiatric GWAS Consortium, et.al.
Mol Psychiatry. 2013 Apr;18(4):497-511. doi: 10.1038/mp.2012.21. Epub 2012 Apr 3.

Interleukin-6 receptor pathways in coronary heart disease: a collaborative meta-analysis of 82 studies.
IL6R Genetics Consortium Emerging Risk Factors Collaboration, et.al.
Lancet. 2012 Mar 31;379(9822):1205-13. doi: 10.1016/S0140-6736(11)61931-4. Epub 2012 Mar 14.

Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke.
International Stroke Genetics Consortium (ISGC); et.al.
Nat Genet. 2012 Feb 5;44(3):328-33. doi: 10.1038/ng.1081.

Homocysteine and coronary heart disease: meta-analysis of MTHFR case-control studies, avoiding publication bias.
Clarke R, et.al.
PLoS Med. 2012 Feb;9(2):e1001177. doi: 10.1371/journal.pmed.1001177. Epub 2012 Feb 21.

Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.
Stolk L, et.al.
Nat Genet. 2012 Jan 22;44(3):260-8. doi: 10.1038/ng.1051.

Discovery of common variants associated with low TSH levels and thyroid cancer risk.
Gudmundsson J, et.al.
Nat Genet. 2012 Jan 22;44(3):319-22. doi: 10.1038/ng.1046.

Geographic differences in genetic susceptibility to IgA nephropathy: GWAS replication study and geospatial risk analysis.
Kiryluk K, et.al.
PLoS Genet. 2012;8(6):e1002765. doi: 10.1371/journal.pgen.1002765. Epub 2012 Jun 21.

Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
Fox CS, et.al.
PLoS Genet. 2012;8(5):e1002695. doi: 10.1371/journal.pgen.1002695. Epub 2012 May 10.

Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.
Dastani Z, et.al.
PLoS Genet. 2012;8(3):e1002607. doi: 10.1371/journal.pgen.1002607. Epub 2012 Mar 29.

Comprehensive research synopsis and systematic meta-analyses in Parkinson’s disease genetics: The PDGene database.
Lill CM, et.al.
PLoS Genet. 2012;8(3):e1002548. doi: 10.1371/journal.pgen.1002548. Epub 2012 Mar 15.

De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia.
Kirov G, et.al.
Mol Psychiatry. 2012 Feb;17(2):142-53. doi: 10.1038/mp.2011.154. Epub 2011 Nov 15.

Association study of nonsynonymous single nucleotide polymorphisms in schizophrenia.
Carrera N, et.al.
Biol Psychiatry. 2012 Jan 15;71(2):169-77. doi: 10.1016/j.biopsych.2011.09.032. Epub 2011 Nov 10.

Genome-wide association analysis of coffee drinking suggests association with CYP1A1/CYP1A2 and NRCAM.
Amin N, et.al.
Mol Psychiatry. 2012 Nov;17(11):1116-29. doi: 10.1038/mp.2011.101. Epub 2011 Aug 30.

Don’t give up on GWAS.
Sullivan P; et.al.
Mol Psychiatry. 2012 Jan;17(1):2-3. doi: 10.1038/mp.2011.94. Epub 2011 Aug 9.

Association between genetic variation in a region on chromosome 11 and schizophrenia in large samples from Europe.
Rietschel M, et.al
Mol Psychiatry. 2012 Sep;17(9):906-17. doi: 10.1038/mp.2011.80. Epub 2011 Jul 12. 

2011

Genome-wide association study for coronary artery calcification with follow-up in myocardial infarction.
O’Donnell CJ, et.al.
Circulation. 2011 Dec 20;124(25):2855-64. doi: 10.1161/CIRCULATIONAHA.110.974899. Epub 2011 Dec 5.

Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1.
Bown MJ, Jones GT, et.al
Am J Hum Genet. 2011 Nov 11;89(5):619-27. doi: 10.1016/j.ajhg.2011.10.002. Epub 2011 Nov 4.

Common variants on 8p12 and 1q24.2 confer risk of schizophrenia.
Shi Y, et.al
Nat Genet. 2011 Oct 30;43(12):1224-7. doi: 10.1038/ng.980.

Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
Chambers JC, et.al
Nat Genet. 2011 Oct 16;43(11):1131-8. doi: 10.1038/ng.970.

Identification of low-frequency variants associated with gout and serum uric acid levels.
Sulem P, et.al
Nat Genet. 2011 Oct 9;43(11):1127-30. doi: 10.1038/ng.972.

Mutations in BRIP1 confer high risk of ovarian cancer.
Rafnar T, et.al
Nat Genet. 2011 Oct 2;43(11):1104-7. doi: 10.1038/ng.955.

A germline variant in the TP53 polyadenylation signal confers cancer susceptibility.
Stacey SN, et.al
Nat Genet. 2011 Sep 25;43(11):1098-103. doi: 10.1038/ng.926.

Genome-wide association study identifies five new schizophrenia loci.
Schizophrenia Psychiatric Genome-Wide Association Study (GWAS) Consortium.
Nat Genet. 2011 Sep 18;43(10):969-76. doi: 10.1038/ng.940.

Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
Psychiatric GWAS Consortium Bipolar Disorder Working Group.
Nat Genet. 2011 Sep 18;43(10):977-83. doi: 10.1038/ng.943.

Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
International Consortium for Blood Pressure Genome-Wide Association Studies, et.al
Nature. 2011 Sep 11;478(7367):103-9. doi: 10.1038/nature10405.

Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
Wain LV, et.al
Nat Genet. 2011 Sep 11;43(10):1005-11. doi: 10.1038/ng.922.

Large-scale gene-centric analysis identifies novel variants for coronary artery disease.
IBC 50K CAD Consortium.
PLoS Genet. 2011 Sep;7(9):e1002260. doi: 10.1371/journal.pgen.1002260. Epub 2011 Sep 22.

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
Jacquemont S, et.al.
Nature. 2011 Aug 31;478(7367):97-102. doi: 10.1038/nature10406.

Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes.
Strawbridge RJ, et.al
Diabetes. 2011 Oct;60(10):2624-34. doi: 10.2337/db11-0415. Epub 2011 Aug 26.

A variant in MCF2L is associated with osteoarthritis.
Day-Williams AG, et.al
Am J Hum Genet. 2011 Sep 9;89(3):446-50. doi: 10.1016/j.ajhg.2011.08.001. Epub 2011 Aug 25.

Common variants at VRK2 and TCF4 conferring risk of schizophrenia.
Steinberg S, et.al
Hum Mol Genet. 2011 Oct 15;20(20):4076-81. doi: 10.1093/hmg/ddr325. Epub 2011 Jul 26.

European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene.
Rafnar T, et.al
Hum Mol Genet. 2011 Nov 1;20(21):4268-81. doi: 10.1093/hmg/ddr303. Epub 2011 Jul 12.

The CRP and GDNF genes do not contribute to apnea-hypopnea index or risk of obstructive sleep apnea.
Gislason T, et.al
Am J Respir Crit Care Med. 2011 Jul 1;184(1):143-4; author reply 144-5. doi: 10.1164/ajrccm.184.1.143a.

Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile.
Kilpeläinen TO, et.al
Nat Genet. 2011 Jun 26;43(8):753-60. doi: 10.1038/ng.866.

A Genome-wide Association Study of Lung Cancer Identifies a Region of Chromosome 5p15 Associated with Risk for Adenocarcinoma.
Landi MT, et.al
Am J Hum Genet. 2011 Jun 10;88(6):861. doi: 10.1016/j.ajhg.2011.05.003. Epub 2011 Jun 10.

Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
Yu Y, et.al
Hum Mol Genet. 2011 Sep 15;20(18):3699-709. doi: 10.1093/hmg/ddr270. Epub 2011 Jun 10.

No association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorder.
Curran S, et.al
Am J Med Genet B Neuropsychiatr Genet. 2011 Sep;156B(6):633-9. doi: 10.1002/ajmg.b.31201. Epub 2011 Jun 8.

A two-stage meta-analysis identifies several new loci for Parkinson’s disease.
International Parkinson’s Disease Genomics Consortium (IPDGC); et.al
PLoS Genet. 2011 Jun;7(6):e1002142. doi: 10.1371/journal.pgen.1002142. Epub 2011 Jun 30.

Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes.
Small KS, et.al
Nat Genet. 2011 Jun;43(6):561-4. doi: 10.1038/ng.833. Epub 2011 May 15.

Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption.
Schumann G, et.al
Proc Natl Acad Sci U S A. 2011 Apr 26;108(17):7119-24. doi: 10.1073/pnas.1017288108. Epub 2011 Apr 6.

Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer’s disease.
Hollingworth P, et.al
Nat Genet. 2011 May;43(5):429-35. doi: 10.1038/ng.803. Epub 2011 Apr 3.

Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk.
Duncan EL, et.al
PLoS Genet. 2011 Apr;7(4):e1001372. doi: 10.1371/journal.pgen.1001372. Epub 2011 Apr 21.

Common genetic variants associated with open-angle glaucoma.
Ramdas WD, et.al
Hum Mol Genet. 2011 Jun 15;20(12):2464-71. doi: 10.1093/hmg/ddr120. Epub 2011 Mar 22.

Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
Schunkert H, et.al
Nat Genet. 2011 Mar 6;43(4):333-8. doi: 10.1038/ng.784.

A rare variant in MYH6 is associated with high risk of sick sinus syndrome.
Holm H, et.al
Nat Genet. 2011 Mar 6;43(4):316-20. doi: 10.1038/ng.781.

Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traits.
Speliotes EK, et.al
PLoS Genet. 2011 Mar;7(3):e1001324. doi: 10.1371/journal.pgen.1001324. Epub 2011 Mar 10.

Sequence variants at CYP1A1-CYP1A2 and AHR associate with coffee consumption.
Sulem P, et.al
Hum Mol Genet. 2011 May 15;20(10):2071-7. doi: 10.1093/hmg/ddr086. Epub 2011 Feb 28

Genome-wide association study identifies genetic variation in neurocan as a susceptibility factor for bipolar disorder.
Cichon S, et.al
Am J Hum Genet. 2011 Mar 11;88(3):372-81. doi: 10.1016/j.ajhg.2011.01.017. Epub 2011 Feb 25.

Maternally derived microduplications at 15q11-q13: implication of imprinted genes in psychotic illness.
Ingason A, et.al
Am J Psychiatry. 2011 Apr;168(4):408-17. doi: 10.1176/appi.ajp.2010.09111660. Epub 2011 Feb 15.

Genome-sequencing anniversary. An anniversary party.
Stefánsson K.
Science. 2011 Feb 11;331(6018):691. doi: 10.1126/science.1203016.

Genome-wide significant association between a sequence variant at 15q15.2 and lung cancer risk.
Rafnar T, et.al
Cancer Res. 2011 Feb 15;71(4):1356-61. doi: 10.1158/0008-5472.CAN-10-2852. Epub 2011 Feb 8.

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.
Yu H, et.al
DNA Repair (Amst). 2011 Apr 3;10(4):398-407. doi: 10.1016/j.dnarep.2011.01.005. Epub 2011 Feb 5.

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.
Wei S, et.al
Carcinogenesis. 2011 Apr;32(4):507-15. doi: 10.1093/carcin/bgr014. Epub 2011 Feb 2.

Single-tissue and cross-tissue heritability of gene expression via identity-by-descent in related or unrelated individuals.
Price AL, et.al
PLoS Genet. 2011 Feb;7(2):e1001317. doi: 10.1371/journal.pgen.1001317. Epub 2011 Feb 24.

Imputation of sequence variants for identification of genetic risks for Parkinson’s disease: a meta-analysis of genome-wide association studies.
International Parkinson Disease Genomics Consortium, et.al.
Lancet. 2011 Feb 19;377(9766):641-9. doi: 10.1016/S0140-6736(10)62345-8. Epub 2011 Feb 1.

RANTES/CCL5 and risk for coronary events: results from the MONICA/KORA Augsburg case-cohort, Athero-Express and CARDIoGRAM studies.
Herder C, et.al
PLoS One. 2011;6(12):e25734. doi: 10.1371/journal.pone.0025734. Epub 2011 Dec 6.

Large scale replication study of the association between HLA class II/BTNL2 variants and osteoarthritis of the knee in European-descent populations.
Valdes AM, et.al
PLoS One. 2011;6(8):e23371. doi: 10.1371/journal.pone.0023371. Epub 2011 Aug 10.

A new subclade of mtDNA haplogroup C1 found in Icelanders: evidence of pre-Columbian contact?
Ebenesersdóttir SS, et.al
Am J Phys Anthropol. 2011 Jan;144(1):92-9. doi: 10.1002/ajpa.21419.

Insights into the genetic architecture of osteoarthritis from stage 1 of the arcOGEN study.
Panoutsopoulou K, et.al
Ann Rheum Dis. 2011 May;70(5):864-7. doi: 10.1136/ard.2010.141473. Epub 2010 Dec 21.

Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22.
Evangelou E, et.al
Ann Rheum Dis. 2011 Feb;70(2):349-55. doi: 10.1136/ard.2010.132787. Epub 2010 Nov 10.

Expanding the range of ZNF804A variants conferring risk of psychosis.
Steinberg S, et.al
Mol Psychiatry. 2011 Jan;16(1):59-66. doi: 10.1038/mp.2009.149. Epub 2010 Jan 5.

Copy number variations of chromosome 16p13.1 region associated with schizophrenia.
Ingason A, et al.
Mol Psychiatry. 2011 Jan;16(1):17-25. doi: 10.1038/mp.2009.101. Epub 2009 Sep 29.

 

 

2010

Biological, clinical and population relevance of 95 loci for blood lipids.
Teslovich TM, et al.
Nature. 2010 Aug 5;466(7307):707-13. doi: 10.1038/nature09270.

Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
Speliotes EK, et al.
Nat Genet. 2010 Nov;42(11):937-48. doi: 10.1038/ng.686. Epub 2010 Oct 10.

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.
Dupuis J, et al.
Nat Genet. 2010 Feb;42(2):105-16. doi: 10.1038/ng.520. Epub 2010 Jan 17.

Addictions and their familiality in Iceland.
Tyrfingsson T, et al.
Ann N Y Acad Sci. 2010 Feb;1187:208-17. doi: 10.1111/j.1749-6632.2009.05151.x.

The past, present, and future of direct-to-consumer genetic tests.
Helgason A, et al.
Dialogues Clin Neurosci. 2010;12(1):61-8.

Personalized genomic information: preparing for the future of genetic medicine.
Guttmacher AE, et al.
Nat Rev Genet. 2010 Feb;11(2):161-5. doi: 10.1038/nrg2735. Epub 2010 Jan 12.

Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior.
Thorgeirsson TE, et al.
Nat Genet. 2010 May;42(5):448-53. doi: 10.1038/ng.573. Epub 2010 Apr 25.

Commentary: gene-environment interactions and smoking-related cancers.
Thorgeirsson TE, et al.
Int J Epidemiol. 2010 Apr;39(2):577-9. doi: 10.1093/ije/dyp385. Epub 2010 Feb 1.

Genetic risk score and cardiovascular events in women.
Holm H, et al.
JAMA. 2010 May 26;303(20):2032; author reply 2032-3. doi: 10.1001/jama.2010.660.

Evaluating differences in linkage disequilibrium between populations.
Hrafnkelsson B, et al.
Ann Hum Genet. 20 May;74(3):233-47. doi: 10.1111/j.1469-1809.2010.00571.x.

Fine-scale recombination rate differences between sexes, populations and individuals.
Kong A, et al.
Nature. 2010 Oct 28;467(7319):1099-103. doi: 10.1038/nature09525.

GPC5 rs2352028 variant and risk of lung cancer in never smokers.
Landi MT, et al.
Lancet Oncol. 2010 Aug;11(8):714-6; author reply 716. doi: 10.1016/S1470-2045(10)70096-6.

Ancestry-shift refinement mapping of the C6orf97-ESR1 breast cancer susceptibility locus.
Stacey SN, et al.
PLoS Genet. 2010 Jul 22;6(7):e1001029. doi: 10.1371/journal.pgen.1001029.

A sequence variant on 17q21 is associated with age at onset and severity of asthma.
Halapi E, et al.
Eur J Hum Genet. 2010 Aug;18(8):902-8. doi: 10.1038/ejhg.2010.38. Epub 2010 Apr 7.

Insights into the genetic architecture of osteoarthritis from stage 1 of the arcOGEN study.
Panoutsopoulou K, et al.
Ann Rheum Dis. 2011 May;70(5):864-7. doi: 10.1136/ard.2010.141473. Epub 2010 Dec 21.

A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer.
Kiemeney LA, et al.
Nat Genet. 2010 May;42(5):415-9. doi: 10.1038/ng.558. Epub 2010 Mar 28.

Several common variants modulate heart rate, PR interval and QRS duration.
Holm H, et al.
Nat Genet. 2010 Feb;42(2):117-22. doi: 10.1038/ng.511. Epub 2010 Jan 10.

Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.
Voight BF, et al.
Nat Genet. 2010 Jul;42(7):579-89. doi: 10.1038/ng.609.

Hundreds of variants clustered in genomic loci and biological pathways affect human height.
Lango Allen H, et al.
Nature. 2010 Oct 14;467(7317):832-8. doi: 10.1038/nature09410. Epub 2010 Sep 29.

Common variants at 19p13 are associated with susceptibility to ovarian cancer.
Bolton KL, et al.
Nat Genet. 2010 Oct;42(10):880-4. doi: 10.1038/ng.666. Epub 2010 Sep 19.

A genome-wide association study identifies an osteoarthritis susceptibility locus on chromosome 7q22.
Kerkhof HJ, et al.
Arthritis Rheum. 2010 Feb;62(2):499-510. doi: 10.1002/art.27184.

Genetic correction of PSA values using sequence variants associated with PSA levels.
Gudmundsson J, et al.
Sci Transl Med. 2010 Dec 15;2(62):62ra92. doi: 10.1126/scitranslmed.3001513.

The chromosome 9p21 risk locus is associated with angiographic severity and progression of coronary artery disease.
Patel RS, et al.
Eur Heart J. 2010 Dec;31(24):3017-23. doi: 10.1093/eurheartj/ehq272. Epub 2010 Aug 20.

Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis.
Williams NM, et al.
Lancet. 2010 Oct 23;376(9750):1401-8. doi: 10.1016/S0140-6736(10)61109-9. Epub 2010 Sep 29.

Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma.
Thorleifsson G, et al.
Nat Genet. 2010 Oct;42(10):906-9. doi: 10.1038/ng.661. Epub 2010 Sep 12.

Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1.
Anttila V, et al.
Nat Genet. 2010 Oct;42(10):869-73. doi: 10.1038/ng.652. Epub 2010 Aug 29.

A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci.
Rothman N, et al.
Nat Genet. 2010 Nov;42(11):978-84. doi: 10.1038/ng.687. Epub 2010 Oct 24.

European bone mineral density loci are also associated with BMD in East-Asian populations.
Styrkarsdottir U, et al.
PLoS One. 2010 Oct 7;5(10):e13217. doi: 10.1371/journal.pone.0013217.

Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22.
Evangelou E, et al.
Ann Rheum Dis. 2011 Feb;70(2):349-55. doi: 10.1136/ard.2010.132787. Epub 2010 Nov 10.

Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge.
Saxena R, et al.
Nat Genet. 2010 Feb;42(2):142-8. doi: 10.1038/ng.521. Epub 2010 Jan 17.

A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24.
Goode EL, et al.
Nat Genet. 2010 Oct;42(10):874-9. doi: 10.1038/ng.668. Epub 2010 Sep 19.

Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases.
Gudbjartsson DF, et al.
PLoS Genet. 2010 Jul 29;6(7):e1001039. doi: 10.1371/journal.pgen.1001039.

Genetic evidence that raised sex hormone binding globulin (SHBG) levels reduce the risk of type 2 diabetes.
Perry JR, et al.
Hum Mol Genet. 2010 Feb 1;19(3):535-44. doi: 10.1093/hmg/ddp522. Epub 2009 Nov 18.

Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
Elks CE, et al.
Nat Genet. 2010 Dec;42(12):1077-85. doi: 10.1038/ng.714.

Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm.
Gretarsdottir S, et al.
Nat Genet. 2010 Aug;42(8):692-7. doi: 10.1038/ng.622. Epub 2010 Jul 11.

Genome-wide meta-analysis for serum calcium identifies significantly associated SNPs near the calcium-sensing receptor (CASR) gene.
Kapur K, et al.PLoS Genet. 2010 Jul 22;6(7):e1001035. doi: 10.1371/journal.pgen.1001035.

Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways.
Soranzo N, et al.
Diabetes. 2010 Dec;59(12):3229-39. doi: 10.2337/db10-0502. Epub 2010 Sep 21.

Evaluation of association of HNF1B variants with diverse cancers: collaborative analysis of data from 19 genome-wide association studies.
Elliott KS, et al.
PLoS One. 2010 May 28;5(5):e10858. doi: 10.1371/journal.pone.0010858.

Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies.
Assimes TL, et al.
J Am Coll Cardiol. 2010 Nov 2;56(19):1552-63. doi: 10.1016/j.jacc.2010.06.022.

Association of JAG1 with bone mineral density and osteoporotic fractures: a genome-wide association study and follow-up replication studies.
Kung AW, et al.
Am J Hum Genet. 2010 Feb 12;86(2):229-39. doi: 10.1016/j.ajhg.2009.12.014. Epub 2010 Jan 21.

Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.
Heid IM, et al.
Nat Genet. 2010 Nov;42(11):949-60. doi: 10.1038/ng.685. Epub 2010 Oct 10.

Design of the Coronary ARtery DIsease Genome-Wide Replication And Meta-Analysis (CARDIoGRAM) Study: A Genome-wide association meta-analysis involving more than 22 000 cases and 60 000 controls.
Preuss M, et al.
Circ Cardiovasc Genet. 2010 Oct;3(5):475-83. doi: 10.1161/CIRCGENETICS.109.899443. Epub 2010 Oct 5.

Replication of lung cancer susceptibility loci at chromosomes 15q25, 5p15, and 6p21: a pooled analysis from the International Lung Cancer Consortium.
Truong T, et al.
J Natl Cancer Inst. 2010 Jul 7;102(13):959-71. doi: 10.1093/jnci/djq178. Epub 2010 Jun 14.

Genetic risk information for common diseases may indeed be already useful for prevention and early detection. 
Gulcher J, et al.
Eur J Clin Invest. 2010 Jan;40(1):56-63. doi: 10.1111/j.1365-2362.2009.02233.x.

 

 

2009

Parental origin of sequence variants associated with complex diseases.
Kong A, et al.
Nature. 2009 Dec 17;462(7275):868-74. doi: 10.1038/nature08625.

The Scientific Foundation for personal genomics: recommendations from a National Institutes of Health-Centers for Disease Control and Prevention multidisciplinary workshop.
Khoury MJ, et al.
Genet Med. 2009 Aug;11(8):559-67. doi: 10.1097/GIM.0b013e3181b13a6c.

Association of folate-pathway gene polymorphisms with the risk of prostate cancer: a population-based nested case-control study, systematic review, and meta-analysis.
Collin SM, et al.
Cancer Epidemiol Biomarkers Prev. 2009 Sep;18(9):2528-39. doi: 10.1158/1055-9965.EPI-09-0223. Epub 2009 Aug 25.

Common variants conferring risk of schizophrenia.
Stefansson H, et al.
Nature. 2009 Aug 6;460(7256):744-7. doi: 10.1038/nature08186. Epub 2009 Jul 1.

Geographic atrophy in age-related macular degeneration and TLR3.
Allikmets R, et al.
N Engl J Med. 2009 May 21;360(21):2252-4; author reply 2255-6.

Familiality of kidney stone disease in Iceland.
Edvardsson VO, et al.
Scand J Urol Nephrol. 2009;43(5):420-4. doi: 10.3109/00365590903151479.

SPINK9: a selective, skin-specific Kazal-type serine protease inhibitor.
Brattsand M, et al.
J Invest Dermatol. 2009 Jul;129(7):1656-65. doi: 10.1038/jid.2008.448. Epub 2009 Feb 5.

Questions about genetic variation in 9p21 as a predictor of cardiovascular risk.
Gulcher J, et al.
Ann Intern Med. 2009 May 19;150(10):736; author reply 737. doi: 10.7326/0003-4819-150-10-200905190-00018.

New sequence variants associated with bone mineral density.
Styrkarsdottir U, et al.
Nat Genet. 2009 Jan;41(1):15-7. doi: 10.1038/ng.284. Epub 2008 Dec 14.

New common variants affecting susceptibility to basal cell carcinoma.
Stacey SN, et al.
Nat Genet. 2009 Aug;41(8):909-14. doi: 10.1038/ng.412. Epub 2009 Jul 5.

Clinical risk factors, DNA variants, and the development of type 2 diabetes.
Gulcher J, et al.
N Engl J Med. 2009 Mar 26;360(13):1360; author reply 1361.

Disruption of the neurexin 1 gene is associated with schizophrenia.
Rujescu D, et al.
Hum Mol Genet. 2009 Mar 1;18(5):988-96. doi: 10.1093/hmg/ddn351. Epub 2008 Oct 22.

Variants in MTNR1B influence fasting glucose levels.
Prokopenko I, et al.
Nat Genet. 2009 Jan;41(1):77-81. doi: 10.1038/ng.290. Epub 2008 Dec 7.

Large-scale analysis of association between GDF5 and FRZB variants and osteoarthritis of the hip, knee, and hand.
Evangelou E, et al.
Arthritis Rheum. 2009 Jun;60(6):1710-21. doi: 10.1002/art.24524.

The impact of divergence time on the nature of population structure: an example from Iceland.
Price AL, et al.
PLoS Genet. 2009 Jun;5(6):e1000505. doi: 10.1371/journal.pgen.1000505. Epub 2009 Jun 5.

Variant in the sequence of the LINGO1 gene confers risk of essential tremor.
Stefansson H, et al.
Nat Genet. 2009 Mar;41(3):277-9. doi: 10.1038/ng.299. Epub 2009 Feb 1.

Sequence variants at the TERT-CLPTM1L locus associate with many cancer types.
Rafnar T, et al.
Nat Genet. 2009 Feb;41(2):221-7. doi: 10.1038/ng.296. Epub 2009 Jan 18.

Antagonists of the EP3 receptor for prostaglandin E2 are novel antiplatelet agents that do not prolong bleeding.
Singh J, et al.
ACS Chem Biol. 2009 Feb 20;4(2):115-26. doi: 10.1021/cb8002094.

Collaborative meta-analysis: associations of 150 candidate genes with osteoporosis and osteoporotic fracture.
Richards JB, et al.
Ann Intern Med. 2009 Oct 20;151(8):528-37. doi: 10.7326/0003-4819-151-8-200910200-00006.

Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.
Rivadeneira F, et al.
Nat Genet. 2009 Nov;41(11):1199-206. doi: 10.1038/ng.446. Epub 2009 Oct 4.

Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction.
Gudbjartsson DF, et al.
Nat Genet. 2009 Mar;41(3):342-7. doi: 10.1038/ng.323. Epub 2009 Feb 8.

Common variants on 9q22.33 and 14q13.3 predispose to thyroid cancer in European populations.
Gudmundsson J, et al.
Nat Genet. 2009 Apr;41(4):460-4. doi: 10.1038/ng.339. Epub 2009 Feb 6.

Genome-wide association study identifies sequence variants on 6q21 associated with age at menarche.
Sulem P, et al.
Nat Genet. 2009 Jun;41(6):734-8. doi: 10.1038/ng.383. Epub 2009 May 17.

A sequence variant in ZFHX3 on 16q22 associates with atrial fibrillation and ischemic stroke.
Gudbjartsson DF, et al.
Nat Genet. 2009 Aug;41(8):876-8. doi: 10.1038/ng.417. Epub 2009 Jul 13.

Genome-wide association and replication studies identify four variants associated with prostate cancer susceptibility.
Gudmundsson J, et al.
Nat Genet. 2009 Oct;41(10):1122-6. doi: 10.1038/ng.448. Epub 2009 Sep 20.

Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution.
Lindgren CM, et al.
PLoS Genet. 2009 Jun;5(6):e1000508. doi: 10.1371/journal.pgen.1000508. Epub 2009 Jun 26.

Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.
Myocardial Infarction Genetics Consortium, et al.
Nat Genet. 2009 Mar;41(3):334-41. doi: 10.1038/ng.327. Epub 2009 Feb 8.

Genetic variation in the prostate stem cell antigen gene PSCA confers susceptibility to urinary bladder cancer.
Wu X, et al.
Nat Genet. 2009 Sep;41(9):991-5. doi: 10.1038/ng.421. Epub 2009 Aug 2.

Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density.
Thorleifsson G, et al.
Nat Genet. 2009 Aug;41(8):926-30. doi: 10.1038/ng.404. Epub 2009 Jun 28.

Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.
Thorleifsson G, et al.
Nat Genet. 2009 Jan;41(1):18-24. doi: 10.1038/ng.274. Epub 2008 Dec 14.

A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma.
Landi MT, et al.
Am J Hum Genet. 2009 Nov;85(5):679-91. doi: 10.1016/j.ajhg.2009.09.012. Epub 2009 Oct 15.

The T-381C SNP in BNP gene may be modestly associated with type 2 diabetes: an updated meta-analysis in 49 279 subjects.
Choquet H, et al.
Hum Mol Genet. 2009 Jul 1;18(13):2495-501. doi: 10.1093/hmg/ddp169. Epub 2009 Apr 18.

Sequences from first settlers reveal rapid evolution in Icelandic mtDNA pool.
Helgason A, et al.
PLoS Genet. 2009 Jan;5(1):e1000343. doi: 10.1371/journal.pgen.1000343. Epub 2009 Jan 16.  

 

 

2008

DG-041 inhibits the EP3 prostanoid receptor–a new target for inhibition of platelet function in atherothrombotic disease.
Heptinstall S, et al.
Platelets. 2008 Dec;19(8):605-13. doi: 10.1080/09537100802351073.

Genetics of smoking behavior and its consequences: the role of nicotinic acetylcholine receptors.
Thorgeirsson TE, et al.
Biol Psychiatry. 2008 Dec 1;64(11):919-21. doi: 10.1016/j.biopsych.2008.09.010.

Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits.
Stacey SN, et al.
Nat Genet. 2008 Nov;40(11):1313-8. doi: 10.1038/ng.234. Epub 2008 Oct 12.

Male-pattern baldness susceptibility locus at 20p11.
Richards JB, et al.
Nat Genet. 2008 Nov;40(11):1282-4. doi: 10.1038/ng.255. Epub 2008 Oct 12.

Risk variants for atrial fibrillation on chromosome 4q25 associate with ischemic stroke.
Gretarsdottir S, et al.
Ann Neurol. 2008 Oct;64(4):402-9. doi: 10.1002/ana.21480.

Impact of genetics on low bone mass in adults.
Sigurdsson G, et al.
J Bone Miner Res. 2008 Oct;23(10):1584-90. doi: 10.1359/jbmr.080507.

Sequence variant on 8q24 confers susceptibility to urinary bladder cancer.
Kiemeney LA, et al.
Nat Genet. 2008 Nov;40(11):1307-12. doi: 10.1038/ng.229. Epub 2008 Sep 14.

Large recurrent microdeletions associated with schizophrenia.
Stefansson H, et al.
Nature. 2008 Sep 11;455(7210):232-6. doi: 10.1038/nature07229.

Detection of sharing by descent, long-range phasing and haplotype imputation.
Kong A, et al.
Nat Genet. 2008 Sep;40(9):1068-75. doi: 10.1038/ng.216.

The clinical utility of genetic risk variants in type 2 diabetes.
Gulcher J, et al.
Expert Opin Med Diagn. 2008 Aug;2(8):991-1002. doi: 10.1517/17530059.2.8.991.

A drastic reduction in the life span of cystatin C L68Q carriers due to life-style changes during the last two centuries.
Palsdottir A, et al.
PLoS Genet. 2008 Jun 20;4(6):e1000099. doi: 10.1371/journal.pgen.1000099.

Screen for CACNA1A and ATP1A2 mutations in sporadic hemiplegic migraine patients.
Thomsen LL, et al.
Cephalalgia. 2008 Sep;28(9):914-21. doi: 10.1111/j.1468-2982.2008.01599.x. Epub 2008 May 30.

Two newly identified genetic determinants of pigmentation in Europeans.
Sulem P, et al.
Nat Genet. 2008 Jul;40(7):835-7. doi: 10.1038/ng.160. Epub 2008 May 18.

ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma.
Gudbjartsson DF, et al.
Nat Genet. 2008 Jul;40(7):886-91. doi: 10.1038/ng.161. Epub 2008 May 18.

Multiple genetic loci for bone mineral density and fractures.
Styrkarsdottir U, et al.
N Engl J Med. 2008 May 29;358(22):2355-65. doi: 10.1056/NEJMoa0801197. Epub 2008 Apr 29.

Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer.
Stacey SN, et al.
Nat Genet. 2008 Jun;40(6):703-6. doi: 10.1038/ng.131. Epub 2008 Apr 27.

Many sequence variants affecting diversity of adult human height.
Gudbjartsson DF, et al..
Nat Genet. 2008 May;40(5):609-15. doi: 10.1038/ng.122. Epub 2008 Apr 6.

A variant associated with nicotine dependence, lung cancer and peripheral arterial disease.
Thorgeirsson TE, et al.
Nature. 2008 Apr 3;452(7187):638-642. doi: 10.1038/nature06846.

On the replication of genetic associations: timing can be everything!
Lasky-Su J, et al.
Am J Hum Genet. 2008 Apr;82(4):849-58. doi: 10.1016/j.ajhg.2008.01.018.

Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.
Zeggini E, et al.
Nat Genet. 2008 May;40(5):638-45. doi: 10.1038/ng.120. Epub 2008 Mar 30.

Genetics of gene expression and its effect on disease.
Emilsson V, et al.
Nature. 2008 Mar 27;452(7186):423-8. doi: 10.1038/nature06758. Epub 2008 Mar 16.

Common sequence variants on 2p15 and Xp11.22 confer susceptibility to prostate cancer.
Gudmundsson J, et al.
Nat Genet. 2008 Mar;40(3):281-3. doi: 10.1038/ng.89. Epub 2008 Feb 10.

An association between the kinship and fertility of human couples.
Helgason A, et al.
Science. 2008 Feb 8;319(5864):813-6. doi: 10.1126/science.1150232.

Sequence variants in the RNF212 gene associate with genome-wide recombination rate.
Kong A, et al.
Science. 2008 Mar 7;319(5868):1398-401. doi: 10.1126/science.1152422. Epub 2008 Jan 31.

Lessons from the past: familial aggregation analysis of fatal pandemic influenza (Spanish flu) in Iceland in 1918.
Gottfredsson M, et al.
Proc Natl Acad Sci U S A. 2008 Jan 29;105(4):1303-8. doi: 10.1073/pnas.0707659105. Epub 2008 Jan 23.

Association between microdeletion and microduplication at 16p11.2 and autism.
Weiss LA, et al.
N Engl J Med. 2008 Feb 14;358(7):667-75. doi: 10.1056/NEJMoa075974. Epub 2008 Jan 9.

The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm.
Helgadottir A, et al.
Nat Genet. 2008 Feb;40(2):217-24. doi: 10.1038/ng.72. Epub 2008 Jan 6.

CDKN2A mutations and melanoma risk in the Icelandic population.
Goldstein AM, et al.
J Med Genet. 2008 May;45(5):284-9. doi: 10.1136/jmg.2007.055376. Epub 2008 Jan 4.

Activation of proteinase-activated receptor-2 by human kallikrein-related peptidases.
Stefansson K et al.
J Invest Dermatol. 2008 Jan;128(1):18-25. doi: 10.1038/sj.jid.5700965. Epub 2007 Jul 12.  

 

 

2007

Genetic determinants of hair, eye and skin pigmentation in Europeans.
Sulem P et al.
Nat Genet. 2007 Dec;39(12):1443-52. doi: 10.1038/ng.2007.13. Epub 2007 Oct 21.

PARK10 candidate RNF11 is expressed by vulnerable neurons and localizes to Lewy bodies in Parkinson disease brain.
Anderson LR et al.
J Neuropathol Exp Neurol. 2007 Oct;66(10):955-64. doi: 10.1097/nen.0b013e3181567f17.

Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma.
Thorleifsson G et al..
Science. 2007 Sep 7;317(5843):1397-400. doi: 10.1126/science.1146554. Epub 2007 Aug 9.

PDE4D and ALOX5AP genetic variants and risk for Ischemic Cerebrovascular Disease in Sweden.
Kostulas K et al.
J Neurol Sci. 2007 Dec 15;263(1-2):113-7. doi: 10.1016/j.jns.2007.06.042. Epub 2007 Jul 25.

A genetic risk factor for periodic limb movements in sleep.
Stefansson H et al.
N Engl J Med. 2007 Aug 16;357(7):639-47. doi: 10.1056/NEJMoa072743. Epub 2007 Jul 18.

Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes.
Gudmundsson J et al.
Nat Genet. 2007 Aug;39(8):977-83. doi: 10.1038/ng2062. Epub 2007 Jul 1.

Variants conferring risk of atrial fibrillation on chromosome 4q25.
Gudbjartsson DF et al.
Nature. 2007 Jul 19;448(7151):353-7. doi: 10.1038/nature06007. Epub 2007 Jul 1.

A statistical approach to identify ancient template DNA.
Helgason A, et al.
J Mol Evol. 2007 Jul;65(1):92-102. doi: 10.1007/s00239-006-0259-8. Epub 2007 Jun 25.

Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer.
Stacey SN et al.
Nat Genet. 2007 Jul;39(7):865-9. doi: 10.1038/ng2064. Epub 2007 May 27.

A common variant on chromosome 9p21 affects the risk of myocardial infarction.
Helgadottir A et al.
Science. 2007 Jun 8;316(5830):1491-3. doi: 10.1126/science.1142842. Epub 2007 May 3.

Support for involvement of the AHI1 locus in schizophrenia.
Ingason A et al.
Eur J Hum Genet. 2007 Sep;15(9):988-91. doi: 10.1038/sj.ejhg.5201848. Epub 2007 May 2.

A variant in CDKAL1 influences insulin response and risk of type 2 diabetes.
Steinthorsdottir V et al.
Nat Genet. 2007 Jun;39(6):770-5. doi: 10.1038/ng2043. Epub 2007 Apr 26.

Neuregulin1 (NRG1) signaling through Fyn modulates NMDA receptor phosphorylation: differential synaptic function in NRG1+/- knock-outs compared with wild-type mice.
Bjarnadottir M et al.
J Neurosci. 2007 Apr 25;27(17):4519-29. doi: 10.1523/JNEUROSCI.4314-06.2007.

Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24.
Gudmundsson J et al.
Nat Genet. 2007 May;39(5):631-7. doi: 10.1038/ng1999. Epub 2007 Apr 1.

The association of a SNP upstream of INSIG2 with body mass index is reproduced in several but not all cohorts.
Lyon HN et al.
PLoS Genet. 2007 Apr 27;3(4):e61. doi: 10.1371/journal.pgen.0030061. Epub 2007 Mar 7.

Refining the impact of TCF7L2 gene variants on type 2 diabetes and adaptive evolution.
Helgason A et al.
Nat Genet. 2007 Feb;39(2):218-25. doi: 10.1038/ng1960. Epub 2007 Jan 7.

The genetic spectrum of a population-based sample of familial hemiplegic migraine.
Thomsen LL et al.
Brain. 2007 Feb;130(Pt 2):346-56. doi: 10.1093/brain/awl334. Epub 2006 Dec 2.

2006

Reply to “Many hypotheses but no replication for the association between PDE4D and stroke”.
Gulcher JR et al.
Nat Genet. 2006 Oct;38(10):1092-3.

Segmental duplication density decrease with distance to human-mouse breaks of synteny
Jesus Sainz et al.
Eur J Hum Genet. 2006 Feb;14(2):216-21.

Validation of the deCODE Migraine Questionnaire (DMQ3) for use in genetic studies.
Kirchmann M et al.
Eur J Neurol. 2006 Nov;13(11):1239-44. doi: 10.1111/j.1468-1331.2006.01491.x

The BARD1 Cys557Ser variant and breast cancer risk in Iceland.
Stacey SN et al.
PLoS Med. 2006 Jul;3(7):e217. doi: 10.1371/journal.pmed.0030217.

A common variant associated with prostate cancer in European and African populations.
Amundadottir LT et al.
Nat Genet. 2006 Jun;38(6):652-8. doi: 10.1038/ng1808. Epub 2006 May 7.

mtDNA variation in Inuit populations of Greenland and Canada: migration history and population structure.
Helgason A et al.
Am J Phys Anthropol. 2006 May;130(1):123-34. doi: 10.1002/ajpa.20313.

Distinct clinical differences between HLA-Cw*0602 positive and negative psoriasis patients–an analysis of 1019 HLA-C- and HLA-B-typed patients.
Gudjonsson JE et al.
J Invest Dermatol. 2006 Apr;126(4):740-5. doi: 10.1038/sj.jid.5700118.

Segmental duplication density decrease with distance to human-mouse breaks of synteny.
Sainz J et al.
Eur J Hum Genet. 2006 Feb;14(2):216-21. doi: 10.1038/sj.ejhg.5201534.

Familial aggregation of atrial fibrillation in Iceland.
Arnar DO et al.
Eur Heart J. 2006 Mar;27(6):708-12. doi: 10.1093/eurheartj/ehi727. Epub 2006 Jan 20.

Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes.
Grant SF et al.
Nat Genet. 2006 Mar;38(3):320-3. doi: 10.1038/ng1732. Epub 2006 Jan 15.

Positional cloning: complex cardiovascular traits.
Gulcher J et al.
Methods Mol Med. 2006;128:137-52. doi: 10.1385/1-59745-159-2:137.

A genome-wide study of allelic imbalance in human testicular germ cell tumors using microsatellite markers.
Bergthorsson JT et al.
Cancer Genet Cytogenet. 2006 Jan 1;164(1):1-9. doi: 10.1016/j.cancergencyto.2005.06.015.

CFH Y402H confers similar risk of soft drusen and both forms of advanced AMD.
Magnusson KP et al.
PLoS Med. 2006 Jan;3(1):e5. doi: 10.1371/journal.pmed.0030005. Epub 2005 Nov 29.

A variant of the gene encoding leukotriene A4 hydrolase confers ethnicity-specific risk of myocardial infarction.
Helgadottir A et al.
Nat Genet. 2006 Jan;38(1):68-74. doi: 10.1038/ng1692. Epub 2005 Nov 10.

 

 

2005

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.

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.

Profiling of genes expressed in peripheral blood mononuclear cells predicts glucocorticoid sensitivity in asthma patients.
Hakonarson H, et al.
Proc Natl Acad Sci U S A. 2005 Oct 11;102(41):14789-94. doi: 10.1073/pnas.0409904102. Epub 2005 Oct 3.

Comment on the phosphodiesterase 4D replication study by Bevan et al.
Gretarsdottir S, et al.
Stroke. 2005 Sep;36(9):1824. doi: 10.1161/01.str.0000176497.94458.27.

Genetic evidence for a family-based Scandinavian settlement of Shetland and Orkney during the Viking periods.
Goodacre S, et al.
Heredity (Edinb). 2005 Aug;95(2):129-35. doi: 10.1038/sj.hdy.6800661.

Assessing the signatures of selection in PRNP from polymorphism data: results support Kreitman and Di Rienzo’s opinion.
Soldevila M, et al.
Trends Genet. 2005 Jul;21(7):389-91. doi: 10.1016/j.tig.2005.05.001.

Genetics of psoriasis in Iceland: evidence for linkage of subphenotypes to distinct Loci.
Karason A, et al.
J Invest Dermatol. 2005 Jun;124(6):1177-85. doi: 10.1111/j.0022-202X.2005.23703.x.

Effects of a 5-lipoxygenase-activating protein inhibitor on biomarkers associated with risk of myocardial infarction: a randomized trial.
Hakonarson H, et al.
JAMA. 2005 May 11;293(18):2245-56. doi: 10.1001/jama.293.18.2245.

Genes contributing to risk for common forms of stroke.
Gulcher JR, et al.
Trends Mol Med. 2005 May;11(5):217-24. doi: 10.1016/j.molmed.2005.03.001.

Contribution of ADAM33 polymorphisms to the population risk of asthma.
Blakey J, et al.
Thorax. 2005 Apr;60(4):274-6. doi: 10.1136/thx.2004.027227.

A genome wide linkage disequilibrium screen in Parkinson’s disease.
Foltynie T, et al.
J Neurol. 2005 May;252(5):597-602. doi: 10.1007/s00415-005-0686-2. Epub 2005 Feb 23.

A common inversion under selection in Europeans.
Stefansson H, et al.
Nat Genet. 2005 Feb;37(2):129-37. doi: 10.1038/ng1508. Epub 2005 Jan 16.

Association between the gene encoding 5-lipoxygenase-activating protein and stroke replicated in a Scottish population.
Helgadottir A, et al.
Am J Hum Genet. 2005 Mar;76(3):505-9. doi: 10.1086/428066. Epub 2005 Jan 7.

An Icelandic example of the impact of population structure on association studies.
Helgason A, et al.
Nat Genet. 2005 Jan;37(1):90-5. doi: 10.1038/ng1492. Epub 2004 Dec 19.

A proteolytic cascade of kallikreins in the stratum corneum.
Brattsand M, et al.
J Invest Dermatol. 2005 Jan;124(1):198-203. doi: 10.1111/j.0022-202X.2004.23547.x.

 

 

2004

Cancer as a complex phenotype: pattern of cancer distribution within and beyond the nuclear family.
Amundadottir LT, et al.
PLoS Med. 2004 Dec;1(3):e65. doi: 10.1371/journal.pmed.0010065. Epub 2004 Dec 28.

Familial risk of lung carcinoma in the Icelandic population.
Jonsson S, et al.
JAMA. 2004 Dec 22;292(24):2977-83. doi: 10.1001/jama.292.24.2977.

An Icelandic example of the impact of population structure on association studies
Helgason A, et al.
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, et al.
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

Multiple novel transcription initiation sites for NRG1.
Steinthorsdottir V,
Gene. 2004 Nov 10;342(1):97-105. doi: 10.1016/j.gene.2004.07.029.

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, et al.
Design and synthesis of fluorescent substrates for human tyrosyl-DNA phosphodiesterase I.
Nucleic Acids Res. 2004 Aug 27;32(15):4657-64. Print 2004.

Halapi E, 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.

Li T, 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

A novel MALDI-TOF based methodology for genotyping single nucleotide polymorphisms.
Blondal T, et al.
Nucleic Acids Res. 2003 Dec 15;31(24):e155. doi: 10.1093/nar/gng156.

Genome-wide TDT analysis in a localized population with a high prevalence of multiple sclerosis indicates the importance of a region on chromosome 14q.
Giedraitis V, et al.
Genes Immun. 2003 Dec;4(8):559-63. doi: 10.1038/sj.gene.6364024.

Linkage of osteoporosis to chromosome 20p12 and association to BMP2.
Styrkarsdottir U, et al..
PLoS Biol. 2003 Dec;1(3):E69. doi: 10.1371/journal.pbio.0000069. Epub 2003 Nov 3.

A whole genome association study in Icelandic multiple sclerosis patients with 4804 markers.
Jonasdottir A, et al.
J Neuroimmunol. 2003 Oct;143(1-2):88-92. doi: 10.1016/j.jneuroim.2003.08.018.

Erroneous claims about the impact of mitochondrial DNA sequence database errors.
Helgason A, et al.
Am J Hum Genet. 2003 Oct;73(4):974-5. doi: 10.1086/378780.

Localization of a gene for migraine without aura to chromosome 4q21.
Björnsson A, et al.
Am J Hum Genet. 2003 Nov;73(5):986-93. doi: 10.1086/378417. Epub 2003 Sep 25.

The gene encoding phosphodiesterase 4D confers risk of ischemic stroke.
Gretarsdottir S, et al.
Nat Genet. 2003 Oct;35(2):131-8. doi: 10.1038/ng1245. Epub 2003 Sep 21.

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.

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)

Crystal structure of the heterodimeric complex of LXRalpha and RXRbeta ligand-binding domains in a fully agonistic conformation.
Svensson S, et al.
EMBO J. 2003 Sep 15;22(18):4625-33. doi: 10.1093/emboj/cdg456.

Localization of a susceptibility gene for type 2 diabetes to chromosome 5q34-q35.2.
Reynisdottir I, et al.
Am J Hum Genet. 2003 Aug;73(2):323-35. doi: 10.1086/377139. Epub 2003 Jul 8.

A reassessment of genetic diversity in Icelanders: strong evidence from multiple loci for relative homogeneity caused by genetic drift.
Helgason A, et al.
Ann Hum Genet. 2003 Jul;67(Pt 4):281-97. doi: 10.1046/j.1469-1809.2003.00046.x.

Neuregulin 1 in schizophrenia: out of Iceland.
Stefánsson H, et al.
Mol Psychiatry. 2003 Jul;8(7):639-40. doi: 10.1038/sj.mp.4001384.

Prion susceptibility and protective alleles exhibit marked geographic differences.
Soldevila M, et al.
Hum Mutat. 2003 Jul;22(1):104-5. doi: 10.1002/humu.9157.

Genomewide scan for hand osteoarthritis: a novel mutation in matrilin-3.
Stefánsson SE, et al.
Am J Hum Genet. 2003 Jun;72(6):1448-59. doi: 10.1086/375556. Epub 2003 May 7.

A populationwide coalescent analysis of Icelandic matrilineal and patrilineal genealogies: evidence for a faster evolutionary rate of mtDNA lineages than Y chromosomes.
Helgason A, et al.
Am J Hum Genet. 2003 Jun;72(6):1370-88. doi: 10.1086/375453. Epub 2003 Apr 29.

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

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

Anxiety with panic disorder linked to chromosome 9q in Iceland.
Thorgeirsson TE, et al.
Am J Hum Genet. 2003 May;72(5):1221-30. doi: 10.1086/375141. Epub 2003 Apr 4.

Genome-wide linkage screen of a consanguineous multiple sclerosis kinship.
Modin H, et al.
Mult Scler. 2003 Mar;9(2):128-34. doi: 10.1191/1352458503ms894oa.

deCODE genetics, Inc.
Hakonarson H, et al.
Pharmacogenomics. 2003 Mar;4(2):209-15. doi: 10.1517/phgs.4.2.209.22627.

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.
Gudjonsson JE, et al.
Br J Dermatol. 2003 Feb;148(2):233-5. doi: 10.1046/j.1365-2133.2003.05115.x.

The inheritance of hand osteoarthritis in Iceland.
Jonsson H, et al.
Arthritis Rheum. 2003 Feb;48(2):391-5. doi: 10.1002/art.10785.

Association of neuregulin 1 with schizophrenia confirmed in a Scottish population.
Stefansson H, et al.
Am J Hum Genet. 2003 Jan;72(1):83-7. doi: 10.1086/345442. Epub 2002 Dec 11.

A susceptibility gene for psoriatic arthritis maps to chromosome 16q: evidence for imprinting.
Karason A, et al.
Am J Hum Genet. 2003 Jan;72(1):125-31. doi: 10.1086/345646. Epub 2002 Dec 9.

 

2002

A susceptibility gene for late-onset idiopathic Parkinson’s disease.
Hicks AA, et al.
Ann Neurol. 2002 Nov;52(5):549-55. doi: 10.1002/ana.10324.

Familial predisposition and cosegregation analysis of adult obstructive sleep apnea and the sudden infant death syndrome.
Gislason T, et al.
Am J Respir Crit Care Med. 2002 Sep 15;166(6):833-8. doi: 10.1164/rccm.2107121.

Neuregulin 1 and susceptibility to schizophrenia.
Stefansson H, et al.
Am J Hum Genet. 2002 Oct;71(4):877-92. doi: 10.1086/342734. Epub 2002 Jul 23.

A major susceptibility gene for asthma maps to chromosome 14q24.
Hakonarson H, et al.
Am J Hum Genet. 2002 Sep;71(3):483-91. doi: 10.1086/342205. Epub 2002 Jul 15.

Advances in the development of genetic markers for the diagnosis of disease and drug response.
Halapi E, et al.
Expert Rev Mol Diagn. 2002 Sep;2(5):411-21. doi: 10.1586/14737159.2.5.411.

A population-based familial aggregation analysis indicates genetic contribution in a majority of renal cell carcinomas.
Gudbjartsson T, et al.
Int J Cancer. 2002 Aug 1;100(4):476-9. doi: 10.1002/ijc.10513.

The natural history of untreated multiple sclerosis in Iceland. A total population-based 50 year prospective study.
Benedikz J, et al.
Clin Neurol Neurosurg. 2002 Jul;104(3):208-10. doi: 10.1016/s0303-8467(02)00040-9.

A high-resolution recombination map of the human genome.
Kong A, et al.
Nat Genet. 2002 Jul;31(3):241-7. doi: 10.1038/ng917. Epub 2002 Jun 10.

Linkage of essential hypertension to chromosome 18q.
Kristjansson K, et al.
Hypertension. 2002 Jun;39(6):1044-9. doi: 10.1161/01.hyp.0000018580.24644.18.

Localization of a susceptibility gene for common forms of stroke to 5q12.
Gretarsdottir S, et al.
Am J Hum Genet. 2002 Mar;70(3):593-603. doi: 10.1086/339252. Epub 2002 Feb 6.

Localization of a gene for peripheral arterial occlusive disease to chromosome 1p31.
Gudmundsson G, et al.
Am J Hum Genet. 2002 Mar;70(3):586-92. doi: 10.1086/339251. Epub 2002 Feb 6.

HLA class II alleles and haplotypes in Icelandic Type I diabetic patients: comparison of Icelandic and Norwegian populations.
Backman VM, et al.
Diabetologia. 2002 Mar;45(3):452-3. doi: 10.1007/s00125-001-0721-5.

Genetic factors contribute to the risk of developing endometriosis.
Stefansson H, et al.
Hum Reprod. 2002 Mar;17(3):555-9. doi: 10.1093/humrep/17.3.555.

HLA-Cw6-positive and HLA-Cw6-negative patients with Psoriasis vulgaris have distinct clinical features.
Gudjonsson JE, et al.
J Invest Dermatol. 2002 Feb;118(2):362-5. doi: 10.1046/j.0022-202x.2001.01656.x.

Genetic analyses in asthma: current concepts and future directions.
Hakonarson H, et al.
Am J Pharmacogenomics. 2002;2(3):155-66. doi: 10.2165/00129785-200202030-00001.

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)

 

 

2001

Allelic frequencies and patterns of single-nucleotide polymorphisms in candidate genes for asthma and atopy in Iceland.
Hakonarson H, et al.
Am J Respir Crit Care Med. 2001 Dec 1;164(11):2036-44. doi: 10.1164/ajrccm.164.11.2101086.

Association between IL-1beta/TNF-alpha-induced glucocorticoid-sensitive changes in multiple gene expression and altered responsiveness in airway smooth muscle.
Hakonarson H, et al.
Am J Respir Cell Mol Biol. 2001 Dec;25(6):761-71. doi: 10.1165/ajrcmb.25.6.4628.

Endometriosis is not associated with or linked to the GALT gene.
Stefansson H, et al.
Fertil Steril. 2001 Nov;76(5):1019-22. doi: 10.1016/s0015-0282(01)02862-x.

Polymorphisms in hypocretin/orexin pathway genes and narcolepsy.
Olafsdóttir BR, et al.
Neurology. 2001 Nov 27;57(10):1896-9. doi: 10.1212/wnl.57.10.1896.

Health care and privacy. An interview with Kari Stefansson, founder and CEO of deCODE Genetics in Reykjavik, Iceland.
Stefánsson K.
EMBO Rep. 2001 Nov;2(11):964-7. doi: 10.1093/embo-reports/kve237.

A large Icelandic family with early osteoarthritis of the hip associated with a susceptibility locus on chromosome 16p.
Ingvarsson T, et al.
Arthritis Rheum. 2001 Nov;44(11):2548-55. doi: 10.1002/1529-0131(200111)44:11<2548::aid-art435>3.0.co;2-s.

The inheritance of rheumatoid arthritis in Iceland.
Grant SF, et al.
Arthritis Rheum. 2001 Oct;44(10):2247-54. doi: 10.1002/1529-0131(200110)44:10<2247::aid-art387>3.0.co;2-y.

A genome-wide scan for preeclampsia in the Netherlands.
Lachmeijer AM, et al.
Eur J Hum Genet. 2001 Oct;9(10):758-64. doi: 10.1038/sj.ejhg.5200706.

The role of linkage studies for common diseases.
Gulcher JR, et al.
Curr Opin Genet Dev. 2001 Jun;11(3):264-7. doi: 10.1016/s0959-437x(00)00188-x.

mtDna and the islands of the North Atlantic: estimating the proportions of Norse and Gaelic ancestry.
Helgason A, et al.
Am J Hum Genet. 2001 Mar;68(3):723-37. doi: 10.1086/318785. Epub 2001 Feb 1.

The genealogic approach to human genetics of disease.
Gulcher J, et al.
Cancer J. 2001 Jan-Feb;7(1):61-8.

 

 

2000

Familial aggregation of Parkinson’s disease in Iceland.
Sveinbjörnsdottir S, et al.
N Engl J Med. 2000 Dec 14;343(24):1765-70. doi: 10.1056/NEJM200012143432404.

The inheritance of hip osteoarthritis in Iceland.
Ingvarsson T, et al.
Arthritis Rheum. 2000 Dec;43(12):2785-92. doi: 10.1002/1529-0131(200012)43:12<2785::AID-ANR19>3.0.CO;2-I.

Genetic homogeneity of Icelanders.
Gulcher J, et al.
Nat Genet. 2000 Dec;26(4):395. doi: 10.1038/82508.

On a randomization procedure.
Kong A, et al.
Am J Hum Genet. 2000 Nov;67(5):1352-6. doi: 10.1016/S0002-9297(07)62967-X.

Inheritance of human longevity in Iceland.
Gudmundsson H, et al.
Eur J Hum Genet. 2000 Oct;8(10):743-9. doi: 10.1038/sj.ejhg.5200527.

Protection of privacy by third-party encryption in genetic research in Iceland.
Gulcher JR, et al.
Eur J Hum Genet. 2000 Oct;8(10):739-42. doi: 10.1038/sj.ejhg.5200530.

Long PCR detection of the C4A null allele in B8-C4AQ0-C4B1-DR3.
Grant SF, et al.
J Immunol Methods. 2000 Oct 20;244(1-2):41-7. doi: 10.1016/s0022-1759(00)00251-9.

Estimating Scandinavian and Gaelic ancestry in the male settlers of Iceland.
Helgason A, et al.
Am J Hum Genet. 2000 Sep;67(3):697-717. doi: 10.1086/303046. Epub 2000 Aug 7.

The Icelandic Healthcare Database and informed consent.
Gulcher JR, et al.
N Engl J Med. 2000 Jun 15;342(24):1827-30. doi: 10.1056/NEJM200006153422411.

Allegro, a new computer program for multipoint linkage analysis.
Gudbjartsson DF, et al.
Nat Genet. 2000 May;25(1):12-3. doi: 10.1038/75514.

The mutation rate in the human mtDNA control region.
Sigurdardottir S, et al.
Am J Hum Genet. 2000 May;66(5):1599-609. doi: 10.1086/302902. Epub 2000 Apr 7.

mtDNA and the origin of the Icelanders: deciphering signals of recent population history.
Helgason A, et al.
Am J Hum Genet. 2000 Mar;66(3):999-1016. doi: 10.1086/302816.

 

1999

Using quality measures to facilitate allele calling in high-throughput genotyping.
Pálsson B, et al.
Genome Res. 1999 Oct;9(10):1002-12. doi: 10.1101/gr.9.10.1002.

A genome-wide scan reveals a maternal susceptibility locus for pre-eclampsia on chromosome 2p13.
Arngrímsson R, et al.
Hum Mol Genet. 1999 Sep;8(9):1799-805. doi: 10.1093/hmg/8.9.1799.

Ethics of population genomics research.
Gulcher JR, et al.
Nature. 1999 Jul 22;400(6742):307-8. doi: 10.1038/22409.

Genealogy certainly matters for multifactorial genetic disease.
Kong A, et al.
BMJ. 1999 Aug 28;319(7209):578-9. doi: 10.1136/bmj.319.7209.578b.

An Icelandic saga on a centralized healthcare database and democratic decision making.
Gulcher J, et al.
Nat Biotechnol. 1999 Jul;17(7):620. doi: 10.1038/10796.

 

1998

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

 

1997

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