D. Gudbjartsson

Giovanni Parmigiani, Susan G Hilsenbeck, Judy E Garber, 2002, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

A common variant associated with prostate cancer in European and African populations

A. Gylfason, D. Gudbjartsson, A. Sigurdsson, 2006, Nature Genetics.

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

Pall I. Olason, H. Stefánsson, A. Ingason, 2008, Nature Genetics.

Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma

D. Gudbjartsson, U. Thorsteinsdóttir, K. Stefánsson, 2015, Nature Communications.

A high-resolution recombination map of the human genome

D. Gudbjartsson, T. Thorgeirsson, J. Gulcher, 2002, Nature Genetics.

A common inversion under selection in Europeans

H. Stefánsson, A. Ingason, A. Gylfason, 2005, Nature Genetics.

Identification of a large set of rare complete human knockouts

H. Stefánsson, D. Gudbjartsson, A. Sigurdsson, 2015, Nature Genetics.

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

D. Gudbjartsson, A. Sigurdsson, T. Blondal, 2007, Nature Genetics.

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

D. Gudbjartsson, U. Thorsteinsdóttir, M. Nöthen, 2016, Nature Communications.

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

K. D. Sørensen, Ali Amin Al Olama, D. Gudbjartsson, 2018, Nature Communications.

Nature Genetics Advance Online Publication Large-scale Genomic Analyses Link Reproductive Aging to Hypothalamic Signaling, Breast Cancer Susceptibility and Brca1-mediated Dna Repair

Andrew D. Johnson, Samuel E. Jones, E. Demerath, 2022 .

Large-scale genomic analyses link reproductive ageing to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

Andrew D. Johnson, Samuel E. Jones, E. Demerath, 2015, Nature Genetics.

Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use

Dajiang J. Liu, A. Reiner, R. Mägi, 2018, Nature Genetics.

Multiancestry association study identifies new asthma risk loci that colocalize with immune cell enhancer marks

Manuel A. R. Ferreira, Cameron D. Palmer, M. Jarvelin, 2017, Nature Genetics.

Sequence variants at CHRNB 3 – CHRNA 6 and CYP 2 A 6 affect smoking behavior

C. Gieger, A. Hofman, A. Uitterlinden, 2010 .

Sequence variants at CHRNB3–CHRNA6 and CYP2A6 affect smoking behavior

C. Gieger, A. Hofman, A. Uitterlinden, 2010, Nature Genetics.

Selection against variants in the genome associated with educational attainment

H. Stefánsson, D. Gudbjartsson, U. Thorsteinsdóttir, 2017, Proceedings of the National Academy of Sciences.

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

D. Gudbjartsson, A. Sigurdsson, Á. Jónasdóttir, 2016, Nature Genetics.

Familial risk of lung carcinoma in the Icelandic population.

D. Gudbjartsson, J. Gulcher, U. Thorsteinsdóttir, 2004, JAMA.

Graphtyper enables population-scale genotyping using pangenome graphs

Kari Stefansson, Hannes P Eggertsson, Bjarni V Halldorsson, 2017, Nature Genetics.

Recombination rate and reproductive success in humans

D. Gudbjartsson, T. Thorgeirsson, J. Gulcher, 2004, Nature Genetics.

Sequence variants from whole genome sequencing a large group of Icelanders

Kari Stefansson, Bjarni V Halldorsson, Florian Zink, 2015, Scientific Data.

Genetic Architecture of Vitamin B12 and Folate Levels Uncovered Applying Deeply Sequenced Large Datasets

D. Gudbjartsson, U. Thorsteinsdóttir, A. Kong, 2013, PLoS genetics.

Sequence variant on 8q24 confers susceptibility to urinary bladder cancer

Tony Fletcher, Paolo Vineis, Simonetta Guarrera, 2008, Nature Genetics.

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

Kari Stefansson, Brian T Helfand, William J Catalona, 2009, Nature Genetics.

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

Dan M Roden, Kari Stefansson, Gudmar Thorleifsson, 2011, Nature Genetics.

The CRTAC1 Protein in Plasma Is Associated With Osteoarthritis and Predicts Progression to Joint Replacement: A Large‐Scale Proteomics Scan in Iceland

D. Gudbjartsson, U. Thorsteinsdóttir, K. Stefánsson, 2021, Arthritis & rheumatology.

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

Thomas Meitinger, Pierre Fontanillas, Stefan Johansson, 2014, Nature Genetics.

Brain age prediction using deep learning uncovers associated sequence variants

H. Stefánsson, D. Gudbjartsson, T. Thorgeirsson, 2019, Nature Communications.

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

Kari Stefansson, Brian T Helfand, Gudmar Thorleifsson, 2012, Nature Genetics.

A variant associated with nicotine dependence, lung cancer and peripheral arterial disease

Daniel F. Gudbjartsson, Kari Stefansson, Gudmar Thorleifsson, 2008, Nature.

A common variant on chromosome 9p21 affects the risk of myocardial infarction.

Kari Stefansson, Arshed A Quyyumi, Anna Helgadottir, 2007, Science.

A variant of the gene encoding leukotriene A4 hydrolase confers ethnicity-specific risk of myocardial infarction

Vilmundur Gudnason, Kari Stefansson, Arshed A Quyyumi, 2006, Nature Genetics.

Genome-wide association study across European and African American ancestries identifies a SNP in DNMT3B contributing to nicotine dependence

Michael C. Neale, Dorret I. Boomsma, Timothy B. Baker, 2017, Molecular Psychiatry.

Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels

Karsten B. Sieber, M. P. Concas, Cassandra N. Spracklen, 2019, Nature Genetics.

Weighting sequence variants based on their annotation increases power of whole-genome association studies

Anders Albrechtsen, Kari Stefansson, Florian Zink, 2016, Nature Genetics.

Estimating robustness of the tileShuffle method with repeated probes

D. Gudbjartsson, A. Sigurdsson, K. Stefánsson, 2014, 1403.3028.

A Method for Detecting Long Non-Coding RNAs with Tiled RNA Expression Microarrays

D. Gudbjartsson, A. Sigurdsson, K. Stefánsson, 2014, PloS one.

Genome-wide association study yields variants at 20 p 12 . 2 that associate with urinary bladder cancer

Katja, Gerald, Anne, 2014 .

Diversity in non-repetitive human sequences not found in the reference genome

Bjarni V. Halldórsson, A. Gylfason, B. Halldórsson, 2017, Nature Genetics.

"Bias toward the null" means reduced power.

D. Gudbjartsson, K. Broman, S. Sieberts, 2004, American journal of human genetics.

GPC5 rs2352028 variant and risk of lung cancer in never smokers.

D. Gudbjartsson, T. Thorgeirsson, K. Stefánsson, 2010, The Lancet. Oncology.

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

Hannes P. Eggertsson, Bjarni V. Halldórsson, B. Halldórsson, 2020, Communications Biology.

GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures

A. Uitterlinden, J. V. van Meurs, E. Zeggini, 2019, Nature Communications.

Cancer as a Complex Phenotype: Pattern of Cancer Distribution within and beyond the Nuclear Family

D. Gudbjartsson, J. Gulcher, U. Thorsteinsdóttir, 2004, PLoS medicine.

A large-scale genome-wide association study meta-analysis of cannabis use disorder

John P. Rice, Sarah M. Hartz, D. Rujescu, 2020, The lancet. Psychiatry.

MAP1B mutations cause intellectual disability and extensive white matter deficit

H. Stefánsson, A. Ingason, S. Steinberg, 2018, Nature Communications.

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

H. Stefánsson, D. Gudbjartsson, T. Thorgeirsson, 2017, Nature Communications.

Genetic predisposition to mosaic Y chromosome loss in blood

A. Auton, D. Gudbjartsson, U. Thorsteinsdóttir, 2019, bioRxiv.

Sequence variants associating with urinary biomarkers

Bjarni V. Halldórsson, B. Halldórsson, D. Gudbjartsson, 2018, Human molecular genetics.

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

Bjarni V. Halldórsson, B. Halldórsson, D. Gudbjartsson, 2019, Nature Genetics.

Age and Influenza-Specific Pre-Vaccination Antibodies Strongly Affect Influenza Vaccine Responses in the Icelandic Population whereas Disease and Medication Have Small Effects

D. Gudbjartsson, Gardar Sveinbjornsson, I. Jónsdóttir, 2018, Front. Immunol..

Common Sequence Variants Associated With Coronary Artery Disease Correlate With the Extent of Coronary Atherosclerosis

D. Gudbjartsson, U. Thorsteinsdóttir, K. Stefánsson, 2015, Arteriosclerosis, thrombosis, and vascular biology.

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

Bjarni V. Halldórsson, B. Halldórsson, D. Gudbjartsson, 2009, Nature Genetics.

Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6

Nathan A. Bihlmeyer, Henry J. Lin, Blair H. Smith, 2018, Genome Biology.

A sequence variant in ZFHX 3 on 16 q 22 associates with atrial fibrillation and ischemic stroke

Camilla, Inger, C. Gieger, 2009 .

Predicting atrial fibrillation

D. Gudbjartsson, D. Arnar, H. Hólm, 2009, The Lancet.

European Bone Mineral Density Loci Are Also Associated with BMD in East-Asian Populations

Bjarni V. Halldórsson, B. Halldórsson, D. Gudbjartsson, 2010, PloS one.

Title European bone mineral density loci are also associated withBMD in East-Asian populations

Seung, B. Halldórsson, D. Gudbjartsson, 2010 .

GWAS of Hematuria

D. Gudbjartsson, K. Stefánsson, A. Paterson, 2022, Clinical journal of the American Society of Nephrology : CJASN.

Genetic loci and prioritization of genes for kidney function decline derived from a meta-analysis of 62 longitudinal genome-wide association studies

Karsten B. Sieber, Laurent F. Thomas, Pashupati P. Mishra, 2022, Kidney international.

Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals

Karsten B. Sieber, M. P. Concas, Nicholette D. Palmer, 2022, Communications Biology.

Subclinical intestinal inflammation and sacroiliac changes in relatives of patients with ankylosing spondylitis.

D. Gudbjartsson, K. Kristjánsson, B. Thjódleifsson, 2003, Gastroenterology.

Multiple genetic loci for bone mineral density and fractures.

Kari Stefansson, Claus Christiansen, Bjarni V Halldorsson, 2008, The New England journal of medicine.

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

D. Gudbjartsson, L. Kiemeney, U. Thorsteinsdóttir, 2013, Nature Communications.

Genetic architecture of band neutrophil fraction in Iceland

D. Gudbjartsson, A. Jonasdottir, Á. Jónasdóttir, 2022, Communications Biology.

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

D. Gudbjartsson, U. Thorsteinsdóttir, K. Stefánsson, 2018, Nature Communications.

GENOME-WIDE ASSOCIATION STUDY IMPLICATES CHRNA2 IN CANNABIS USE DISORDER

M. Daly, H. Stefánsson, D. Gudbjartsson, 2017, European Neuropsychopharmacology.

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

P. Tsao, D. Gudbjartsson, U. Thorsteinsdóttir, 2012, Journal of the American College of Cardiology.

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

K. D. Sørensen, Ali Amin Al Olama, D. Gudbjartsson, 2019, Nature Communications.

Polygenic risk score for ACE-inhibitor-associated cough based on the discovery of new genetic loci.

D. Gudbjartsson, H. Ullum, U. Thorsteinsdóttir, 2022, European heart journal.

A genetic contribution to inflammatory bowel disease in Iceland: a genealogic approach.

D. Gudbjartsson, J. Gulcher, K. Stefánsson, 2004, Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association.

Multiomics analysis of rheumatoid arthritis yields sequence variants that have large effects on risk of the seropositive subset

Pall I. Olason, H. Stefánsson, D. Gudbjartsson, 2022, Annals of the Rheumatic Diseases.

Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption (Proceedings of the National Academy Sciences of the United States of America (2011) 108, 17, (7119-7124))

P. O’Reilly, P. Elliott, L. Coin, 2011 .

Genome-Wide Meta-Analysis for Serum Calcium Identifies Significantly Associated SNPs near the Calcium-Sensing Receptor (CASR) Gene

Luigi Ferrucci, Sven Bergmann, Zoltán Kutalik, 2010, PLoS genetics.

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

Bjarni V. Halldórsson, B. Halldórsson, D. Gudbjartsson, 2016, Human molecular genetics.

Rate of de novo mutations and the importance of father’s age to disease risk

S. Steinberg, D. Gudbjartsson, A. Sigurdsson, 2012, Nature.

Allegro, a new computer program for multipoint linkage analysis

Daniel F. Gudbjartsson, Kristjan Jonasson, Michael L. Frigge, 2000, Nature genetics.

D. Gudbjartsson, U. Thorsteinsdóttir, A. Kong, 2018, Nature Genetics.

Research Explorer A large-scale genome-wide association study meta-analysis of cannabis use disorder

John P. Rice, D. Gudbjartsson, T. Thorgeirsson, 2020 .

HLA alleles, disease severity, and age associate with T-cell responses following infection with SARS-CoV-2

Hannes P. Eggertsson, B. Halldórsson, D. Gudbjartsson, 2022, Communications Biology.

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

Daniel F. Gudbjartsson, Michael L. Frigge, Kari Stefansson, 2013, Nature.

The power of genetic diversity in genome-wide association studies of lipids

Christopher D. Brown, Aaron F. McDaid, M. P. Concas, 2021, Nature.

Multi-nucleotide de novo Mutations in Humans

D. Gudbjartsson, A. Jonasdottir, Á. Jónasdóttir, 2016, PLoS genetics.

Multiomics study of nonalcoholic fatty liver disease

D. Gudbjartsson, U. Thorsteinsdóttir, K. Stefánsson, 2022, Nature Genetics.

New sequence variants associated with bone mineral density

Bjarni V. Halldórsson, B. Halldórsson, D. Gudbjartsson, 2009, Nature Genetics.

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

Bjarni V. Halldórsson, A. Ingason, B. Halldórsson, 2018, Nature Communications.

Physical and neurobehavioral determinants of reproductive onset and success

D. Gudbjartsson, U. Thorsteinsdóttir, A. Kong, 2016, Nature Genetics.

The nature of nurture: Effects of parental genotypes

Bjarni V. Halldórsson, B. Halldórsson, D. Gudbjartsson, 2017, Science.

Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

E. Demerath, Toshiko Tanaka, K. Lunetta, 2017, Nature Genetics.

Genome-wide association study implicates CHRNA2 in cannabis use disorder

M. Daly, H. Stefánsson, D. Gudbjartsson, 2017, Nature Neuroscience.

Thirty novel sequence variants impacting human intracranial volume

H. Stefánsson, E. Sigurdsson, D. Gudbjartsson, 2022, Brain communications.

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

D. Postma, I. Hall, D. Gudbjartsson, 2010, European Journal of Human Genetics.

Risk variants for atrial fibrillation on chromosome 4q25 associate with ischemic stroke

C. Gieger, D. Gudbjartsson, J. Gulcher, 2008, Annals of neurology.

Genetic diversity fuels gene discovery for tobacco and alcohol use

John P. Rice, Dajiang J. Liu, Yoonjung Yoonie Joo, 2022, Nature.

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

D. Gudbjartsson, A. Sigurdsson, Á. Jónasdóttir, 2008, Nature Genetics.

Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma

Christian Gieger, Yusuke Nakamura, Philippe Froguel, 2011, Nature Genetics.

A. Reiner, R. Mägi, E. Rimm, 2019 .

Large-scale integration of the plasma proteome with genetics and disease

Bjarni V. Halldórsson, H. Stefánsson, B. Halldórsson, 2021, Nature Genetics.

Composition of the founding population of Iceland: biological distance and morphological variation in early historic Atlantic Europe.

Benedikt Hallgrímsson, B. Hallgrímsson, D. Gudbjartsson, 2004, American journal of physical anthropology.

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

Daniel F. Gudbjartsson, Kari Stefansson, Runolfur Palsson, 2010, PLoS genetics.

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

Paolo Vineis, Simonetta Guarrera, Giuseppe Matullo, 2010, Nature Genetics.

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

Paolo Vineis, Giuseppe Matullo, Kari Stefansson, 2009, Nature Genetics.

Humoral Immune Response to SARS-CoV-2 in Iceland

A. Gylfason, D. Gudbjartsson, A. Sigurdsson, 2020, The New England journal of medicine.

Spread of SARS-CoV-2 in the Icelandic Population

Kari Stefansson, Thorolfur Gudnason, Aslaug Jonasdottir, 2020, The New England journal of medicine.

Reconstruction of a large-scale outbreak of SARS-CoV-2 infection in Iceland informs vaccination strategies

A. Gylfason, D. Gudbjartsson, A. Sigurdsson, 2021, Clinical Microbiology and Infection.

Sequence variation at ANAPC1 accounts for 24% of the variability in corneal endothelial cell density

G. M. Zoega, D. Gudbjartsson, U. Thorsteinsdóttir, 2019, Nature Communications.

Common Sequence Variants in the LOXL1 Gene Confer Susceptibility to Exfoliation Glaucoma

Kari Stefansson, Gudmar Thorleifsson, Hreinn Stefansson, 2007, Science.

Genetic variants associated with mosaic Y chromosome loss highlight cell cycle genes and overlap with cancer susceptibility

Kari Stefansson, Nicholas J Wareham, Claudia Langenberg, 2017, Nature Genetics.

A rare splice donor mutation in the haptoglobin gene associates with blood lipid levels and coronary artery disease

A. Gylfason, D. Gudbjartsson, A. Sigurdsson, 2017, Human molecular genetics.

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

A. Gylfason, D. Gudbjartsson, A. Sigurdsson, 2015, Nature Genetics.

Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways

Andrew D. Johnson, Yan V. Sun, Lorna M. Lopez, 2012, Nature Genetics.

Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways

Yan V. Sun, Lorna M. Lopez, E. Demerath, 2012, Nature Genetics.

A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis

William J. Astle, Hannes P. Eggertsson, J. Danesh, 2021, Communications Biology.

Rate of de novo mutations, father’s age, and disease risk

S. Steinberg, D. Gudbjartsson, A. Sigurdsson, 2012, Nature.

A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease

Gudmundur A. Thorisson, D. Gudbjartsson, A. Sigurdsson, 2018, Nature Communications.

A catalog of genetic loci associated with kidney function from analyses of a million individuals

Karsten B. Sieber, Nicholette D. Palmer, Cassandra N. Spracklen, 2019, Nature Genetics.

Ancestry-Shift Refinement Mapping of the C6orf97-ESR1 Breast Cancer Susceptibility Locus

Clement Adebamowo, Olufunmilayo I. Olopade, Robert Johansson, 2010, PLoS genetics.

Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals

Tom R. Gaunt, James M. Eales, Dajiang J. Liu, 2020, Nature Genetics.

Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals

James M. Eales, Dajiang J. Liu, Yan V. Sun, 2020, Nature Genetics.

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

H. Stefánsson, A. Ingason, D. Gudbjartsson, 2017, npj Genomic Medicine.

A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis

Beryl B. Cummings, Judy H. Cho, M. Rivas, 2015, Nature Communications.

Rare mutations associating with serum creatinine and chronic kidney disease.

Kari Stefansson, Runolfur Palsson, Aslaug Jonasdottir, 2014, Human molecular genetics.

Discovering patterns of pleiotropy in genome-wide association studies

Toshiko Tanaka, S. Bandinelli, M. Waldenberger, 2018, bioRxiv.

A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome

H. Stefánsson, D. Gudbjartsson, T. Thorgeirsson, 2022, Nature Communications.

A genome-wide meta-analysis uncovers six sequence variants conferring risk of vertigo

H. Stefánsson, D. Rujescu, D. Gudbjartsson, 2021, Communications Biology.

Genomic analyses for age at menarche identify 389 independent signals and indicate BMI-independent effects of puberty timing on cancer susceptibility

E. Demerath, Toshiko Tanaka, K. Lunetta, 2016, bioRxiv.

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

Christian Gieger, Inês Barroso, Peter Kraft, 2010, Nature Genetics.

Mutations in BRIP1 confer high risk of ovarian cancer

A. Gylfason, D. Gudbjartsson, A. Sigurdsson, 2011, Nature Genetics.

Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption

P. O’Reilly, P. Elliott, M. Jarvelin, 2011, Proceedings of the National Academy of Sciences.

Rate of de novo mutations and the importance of father’s age to disease risk

S. Steinberg, D. Gudbjartsson, A. Sigurdsson, 2012, Nature.

Characterizing mutagenic effects of recombination through a sequence-level genetic map

Hannes P. Eggertsson, Bjarni V. Halldórsson, B. Halldórsson, 2019, Science.

Multiple transmissions of de novo mutations in families

Hannes P. Eggertsson, A. Gylfason, B. Halldórsson, 2018, Nature Genetics.

Recurrence of de novo mutations in families

Hannes P. Eggertsson, Bjarni V. Halldórsson, A. Gylfason, 2017, bioRxiv.

Whole genome characterization of sequence diversity of 15,220 Icelanders

Hannes P. Eggertsson, Bjarni V. Halldórsson, A. Gylfason, 2017, Scientific Data.

Reproductive fitness and genetic risk of psychiatric disorders in the general population

H. Stefánsson, A. Ingason, E. Sigurdsson, 2017, Nature Communications.

The rate of meiotic gene conversion varies by sex and age

Bjarni V. Halldórsson, A. Gylfason, B. Halldórsson, 2016, Nature Genetics.

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

H. Stefánsson, A. Gylfason, D. Gudbjartsson, 2011, Nature Genetics.

Rare SCARB1 mutations associate with high-density lipoprotein cholesterol but not with coronary artery disease

D. Gudbjartsson, U. Thorsteinsdóttir, K. Stefánsson, 2018, European heart journal.

Large-scale comparison of immunoassay- and aptamer-based plasma proteomics through genetics and disease

Pall I. Olason, Grimur Hjorleifsson Eldjarn, Bjarni V. Halldórsson, 2022, bioRxiv.

Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use

John P. Rice, Dajiang J. Liu, A. Reiner, 2018, Nature Genetics.

A sequence variant in ZFHX3 on 16q22 associates with atrial fibrillation and ischemic stroke

C. Gieger, D. Gudbjartsson, J. Gulcher, 2009, Nature Genetics.

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

Hannes P. Eggertsson, B. Halldórsson, D. Gudbjartsson, 2020, Communications Biology.

Sequence Variants in the RNF212 Gene Associate with Genome-Wide Recombination Rate

Kari Stefansson, Gudmar Thorleifsson, Hreinn Stefansson, 2008, Science.

Genetic variability in the absorption of dietary sterols affects the risk of coronary artery disease

H. Stefánsson, D. Gudbjartsson, H. Ullum, 2020, European heart journal.

The sequences of 150,119 genomes in the UK Biobank

Hannes P. Eggertsson, Brynja D. Sigurpálsdóttir, Pall I. Olason, 2021, Nature.

Subclinical intestinal inflammation: an inherited abnormality in Crohn's disease relatives?

D. Gudbjartsson, V. Gudnason, K. Kristjánsson, 2003, Gastroenterology.

Truncating mutations in RBM12 are associated with psychosis

H. Stefánsson, S. Steinberg, E. Sigurdsson, 2017, Nature Genetics.

Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes

Alexander E. Lopez, David L. Birtwell, Tanya M. Teslovich, 2018, Nature Communications.

GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures

A. Uitterlinden, J. V. van Meurs, E. Zeggini, 2019, Nature Communications.

Mapping the human genetic architecture of COVID-19

Mattia G. Bergomi, Christopher M. DeBoever, Matthew A. Wiles, 2021, Nature.

Coding variants in RPL3L and MYZAP increase risk of atrial fibrillation

B. Halldórsson, D. Gudbjartsson, U. Thorsteinsdóttir, 2018, Communications Biology.

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

D. Gudbjartsson, Á. Jónasdóttir, L. Kiemeney, 2009, Nature Genetics.

Genetic predisposition to mosaic Y chromosome loss in blood

Jacob C. Ulirsch, A. Auton, D. Gudbjartsson, 2019, bioRxiv.

Association of BRCA2 K3326* With Small Cell Lung Cancer and Squamous Cell Cancer of the Skin

A. Uitterlinden, D. Gudbjartsson, A. Sigurdsson, 2018, Journal of the National Cancer Institute.

The gene encoding phosphodiesterase 4D confers risk of ischemic stroke

Mark Gurney, Vilmundur Gudnason, Kari Stefansson, 2003, Nature Genetics.

A susceptibility gene for psoriatic arthritis maps to chromosome 16q: evidence for imprinting.

D. Gudbjartsson, J. Gulcher, A. Kong, 2003, American journal of human genetics.

Deep learning based brain age prediction uncovers associated sequence variants

H. Stefánsson, D. Gudbjartsson, T. Thorgeirsson, 2019, bioRxiv.

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

D. Gudbjartsson, U. Thorsteinsdóttir, A. Kong, 2013, Nature Genetics.

Several common variants modulate heart rate, PR interval and QRS duration

Kari Stefansson, Gudmar Thorleifsson, Aslaug Jonasdottir, 2010, Nature Genetics.

Evaluating differences in linkage disequilibrium between populations

H. Stefánsson, D. Gudbjartsson, J. Gulcher, 2010, Annals of human genetics.

Generation Scotland

Blair H. Smith, E. Demerath, K. Lunetta, 2015 .

An Algorithm for Detecting High Frequency Copy Number Polymorphisms Using SNP Arrays

Bjarni V. Halldórsson, Daniel Gudbjartsson, B. Halldórsson, 2011, J. Comput. Biol..

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

D. Gudbjartsson, U. Thorsteinsdóttir, K. Stefánsson, 2021, Communications Biology.

New basal cell carcinoma susceptibility loci

Bjarni V. Halldórsson, H. Stefánsson, B. Halldórsson, 2015, Nature Communications.

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

D. Gudbjartsson, A. Sigurdsson, U. Thorsteinsdóttir, 2020, Nature.

Eighty-eight variants highlight the role of T cell regulation and airway remodeling in asthma pathogenesis

Bjarni V. Halldórsson, A. Gylfason, B. Halldórsson, 2020, Nature Communications.

Genome-wide analysis yields new loci associating with aortic valve stenosis

G. Abecasis, D. Gudbjartsson, U. Thorsteinsdóttir, 2017, bioRxiv.

Sequence variant at 8 q 24 . 21 associates with sciatica caused by lumbar disc herniation

H. Stefánsson, D. Gudbjartsson, T. Thorgeirsson, 2017 .

Effects of a 5-lipoxygenase-activating protein inhibitor on biomarkers associated with risk of myocardial infarction: a randomized trial.

D. Gudbjartsson, J. Gulcher, A. Kong, 2005, JAMA.

Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits

Hannes P. Eggertsson, Bjarni V. Halldórsson, B. Halldórsson, 2021, Nature Genetics.

Long read sequencing of 1,817 Icelanders provides insight into the role of structural variants in human disease

Guillaume Holley, Daniel F. Gudbjartsson, Kari Stefansson, 2019, bioRxiv.

MAP1B mutations cause intellectual disability and extensive white matter deficit

H. Stefánsson, A. Ingason, S. Steinberg, 2018, Nature Communications.

Diversity in non-repetitive human sequences not found in the reference genome

Bjarni V. Halldórsson, A. Gylfason, B. Halldórsson, 2017, Nature Genetics.

Model-based assessment of replicability for genome-wide association meta-analysis

John P. Rice, Dajiang J. Liu, A. Reiner, 2021, Nature Communications.

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

Kari Stefansson, Torben Hansen, Niels Grarup, 2014, Nature Genetics.

HLA class II sequence variants influence tuberculosis risk in populations of European ancestry

Bjarni V. Halldórsson, A. Gylfason, B. Halldórsson, 2016, Nature Genetics.

Parental origin of sequence variants associated with complex diseases

Daniel F. Gudbjartsson, Michael L. Frigge, Kari Stefansson, 2009, Nature.

Attention-deficit hyperactivity disorder shares copy number variant risk with schizophrenia and autism spectrum disorder

H. Stefánsson, A. Ingason, E. Sigurdsson, 2019, Translational Psychiatry.

Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants

Jacob C. Ulirsch, J. Danesh, P. Deloukas, 2021, Nature Genetics.

Genetic predisposition to hypertension is associated with preeclampsia in European and Central Asian women

D. Lawlor, D. Gudbjartsson, U. Thorsteinsdóttir, 2020, Nature Communications.

Associations of autozygosity with a broad range of human phenotypes

May E. Montasser, Annelot M. Dekker, Blair H. Smith, 2019, Nature Communications.

Sequence variants with large effects on cardiac electrophysiology and disease

D. Gudbjartsson, U. Thorsteinsdóttir, K. Stefánsson, 2019, Nature Communications.

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

D. Gudbjartsson, A. Sigurdsson, U. Thorsteinsdóttir, 2018, Nature Genetics.

Polygenic risk scores for schizophrenia and bipolar disorder associate with addiction

H. Stefánsson, A. Ingason, S. Steinberg, 2017, Addiction biology.

Genetic predisposition to mosaic Y chromosome loss in blood

Behrooz Torabi Moghadam, A. Auton, D. Gudbjartsson, 2019, Nature.

A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids

Christopher D. Brown, Aaron F. McDaid, Yan V. Sun, 2021, bioRxiv.

NPGRJ_NG_122 609..615

H. Stefánsson, A. Ingason, S. Steinberg, 2008 .

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

D. Gudbjartsson, T. Thorgeirsson, L. Kiemeney, 2011, Cancer research.

GPC5 rs2352028 variant and risk of lung cancer in never smokers.

D. Gudbjartsson, T. Thorgeirsson, K. Stefánsson, 2010, The Lancet. Oncology.

Inheritance of human longevity in Iceland

Kári Stefánsson, Jeffrey R Gulcher, D. Gudbjartsson, 2000, European Journal of Human Genetics.

A frameshift deletion in the sarcomere gene MYL4 causes early-onset familial atrial fibrillation

D. Gudbjartsson, U. Thorsteinsdóttir, A. Kong, 2017, European heart journal.

Nationwide Study on Hypertrophic Cardiomyopathy in Iceland: Evidence of a MYBPC3 Founder Mutation

Michael A. Burke, D. Gudbjartsson, K. Stefánsson, 2014, Circulation.

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

D. Gudbjartsson, T. Thorgeirsson, A. Sigurdsson, 2017, Nature Communications.

Coding variants in RPL 3 L and MYZAP increase risk of atrial fi brillation

B. Halldórsson, D. Gudbjartsson, U. Thorsteinsdóttir, 2018 .

Mutations in RPL3L and MYZAP increase risk of atrial fibrillation

Bjarni V. Halldórsson, B. Halldórsson, D. Gudbjartsson, 2017, bioRxiv.

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

Kari Stefansson, Wei Li, Jon Hrafnkelsson, 2009, Nature Genetics.

Epigenetic and genetic components of height regulation

D. Gudbjartsson, U. Thorsteinsdóttir, A. Kong, 2016, Nature Communications.

Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase

D. Gudbjartsson, A. Jonasdottir, Á. Jónasdóttir, 2016, Nature Communications.

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

Bjarni V. Halldórsson, A. Ingason, B. Halldórsson, 2018, Nature Communications.

A germline variant in the TP53 polyadenylation signal confers cancer susceptibility

Kari Stefansson, Brian T Helfand, Torben Hansen, 2011, Nature Genetics.

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

Sandya Liyanarachchi, Kari Stefansson, Gudmar Thorleifsson, 2017, Nature Communications.

Genetic insight into sick sinus syndrome

D. Gudbjartsson, H. Ullum, U. Thorsteinsdóttir, 2021, European heart journal.

Comment on “Evaluating the cardiovascular safety of sclerostin inhibition using evidence from meta-analysis of clinical trials and human genetics”

D. Gudbjartsson, U. Thorsteinsdóttir, K. Stefánsson, 2021, Science Translational Medicine.

Graphtyper: Population-scale genotyping using pangenome graphs

Daniel F. Gudbjartsson, Kari Stefansson, Florian Zink, 2017, bioRxiv.

Genome-wide meta-analysis identifies 93 risk loci and enables risk prediction equivalent to monogenic forms of venous thromboembolism

D. Gudbjartsson, U. Thorsteinsdóttir, K. Stefánsson, 2023, Nature Genetics.

Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction

M. P. Concas, May E. Montasser, Henry J. Lin, 2019, bioRxiv.

Sequence Variants in TAAR5 and Other Loci Affect Human Odor Perception and Naming

Bjarni V. Halldórsson, H. Stefánsson, B. Halldórsson, 2020, Current Biology.

Common variants upstream of KDR encoding VEGFR2 and in TTC39B associate with endometriosis

D. Gudbjartsson, A. Sigurdsson, U. Thorsteinsdóttir, 2016, Nature Communications.

A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin

D. Gudbjartsson, U. Thorsteinsdóttir, K. Stefánsson, 2018, Communications Biology.

COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA

Gudmundur A. Thorisson, D. Gudbjartsson, A. Sigurdsson, 2017, BMC Medical Genetics.

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

Bjarni V. Halldórsson, B. Halldórsson, D. Gudbjartsson, 2018, Nature Genetics.

Estimating heritability without environmental bias

D. Gudbjartsson, U. Thorsteinsdóttir, A. Kong, 2017, bioRxiv.

Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency

D. Gudbjartsson, U. Thorsteinsdóttir, K. Stefánsson, 2021, European Journal of Human Genetics.

The genetic architecture of age-related hearing impairment revealed by genome-wide association analysis

Hannes P. Eggertsson, Bjarni V. Halldórsson, A. Gylfason, 2021, Communications biology.

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

D. Gudbjartsson, A. Sigurdsson, L. Kiemeney, 2015, PLoS genetics.

A rare missense variant in NR1H4 associates with lower cholesterol levels

D. Gudbjartsson, A. Sigurdsson, A. Jonasdottir, 2018, Communications Biology.

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

D. Gudbjartsson, U. Thorsteinsdóttir, K. Stefánsson, 2018, Nature Communications.

Genetic propensities for verbal and spatial ability have opposite effects on body mass index and risk of schizophrenia

H. Stefánsson, E. Sigurdsson, D. Gudbjartsson, 2021 .

Eleven genomic loci affect plasma levels of chronic inflammation marker soluble urokinase-type plasminogen activator receptor

A. Caspi, K. Sugden, R. Poulton, 2021, Communications biology.

PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity

Kathleen F. Kerr, Henry J. Lin, Sina A. Gharib, 2018, Nature Communications.

A rare missense mutation in MYH6 associates with non-syndromic coarctation of the aorta

D. Gudbjartsson, U. Thorsteinsdóttir, K. Stefánsson, 2018, European heart journal.

Genetic variants associated with syncope implicate neural and autonomic processes.

Hannes P. Eggertsson, D. Gudbjartsson, T. Thorgeirsson, 2023, European heart journal.

Parent-of-Origin Specific Allelic Associations Among 106 Genomic Loci for Age at Menarche

Andrew D. Johnson, Daniel L. Koller, E. Demerath, 2014 .

Allegro version 2

Anna Ingolfsdottir, D. Gudbjartsson, A. Kong, 2005, Nature Genetics.

Predicting facial characteristics from complex polygenic variations.

Jens Fagertun, Hanne Jarmer, Tune H Pers, 2015, Forensic science international. Genetics.

A Missense Variant in PLEC Increases Risk of Atrial Fibrillation.

D. Gudbjartsson, U. Thorsteinsdóttir, K. Stefánsson, 2017, Journal of the American College of Cardiology.

The nature of Neanderthal introgression revealed by 27,566 Icelandic genomes

Bjarni V. Halldórsson, B. Halldórsson, D. Gudbjartsson, 2020, Nature.

Loss-of-Function Variants in the Tumor-Suppressor Gene PTPN14 Confer Increased Cancer Risk

Hannes P. Eggertsson, Pall I. Olason, Bjarni V. Halldórsson, 2021, Cancer Research.

Common and Rare Sequence Variants Influencing Tumor Biomarkers in Blood

D. Gudbjartsson, T. Thorgeirsson, U. Thorsteinsdóttir, 2019, Cancer Epidemiology, Biomarkers & Prevention.

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

D. Gudbjartsson, Á. Jónasdóttir, U. Thorsteinsdóttir, 2014, Human molecular genetics.

New common variants affecting susceptibility to basal cell carcinoma

D. Gudbjartsson, A. Sigurdsson, T. Blondal, 2009, Nature Genetics.

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

D. Gudbjartsson, U. Thorsteinsdóttir, K. Stefánsson, 2018, Nature Communications.

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

D. Gudbjartsson, A. Sigurdsson, U. Thorsteinsdóttir, 2018, Nature Genetics.

Author Correction: Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology

Laurent F. Thomas, J. V. van Meurs, R. Mägi, 2022, Nature Communications.

Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology

Laurent F. Thomas, J. V. van Meurs, R. Mägi, 2022, Nature communications.

Variant ASGR1 Associated with a Reduced Risk of Coronary Artery Disease.

D. Gudbjartsson, A. Sigurdsson, Á. Jónasdóttir, 2016, The New England journal of medicine.

Cohort profile: Copenhagen Hospital Biobank - Cardiovascular Disease Cohort (CHB-CVDC): Construction of a large-scale genetic cohort to facilitate a better understanding of heart diseases

H. Stefánsson, A. Gylfason, D. Gudbjartsson, 2021, BMJ Open.

Distinction between the effects of parental and fetal genomes on fetal growth

D. Gudbjartsson, U. Thorsteinsdóttir, K. Stefánsson, 2021, Nature Genetics.

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

D. Gudbjartsson, A. Jonasdottir, Á. Jónasdóttir, 2020, Communications Biology.

Lipoprotein(a) Concentration and Risks of Cardiovascular Disease and Diabetes.

Hannes P. Eggertsson, Bjarni V. Halldórsson, A. Gylfason, 2019, Journal of the American College of Cardiology.

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

H. Stefánsson, D. Gudbjartsson, T. Thorgeirsson, 2019, Nature Communications.

Sequence variation at ANAPC1 accounts for 24% of the variability in corneal endothelial cell density

G. M. Zoega, D. Gudbjartsson, U. Thorsteinsdóttir, 2019, Nature Communications.

University of Groningen Genome-wide analysis yields new loci associating with aortic valve stenosis

D. Gudbjartsson, U. Thorsteinsdóttir, K. Stefánsson, 2018 .

A rare missense mutation in MYH6 confers high risk of coarctation of the aorta

D. Gudbjartsson, U. Thorsteinsdóttir, K. Stefánsson, 2017, bioRxiv.

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

H. Stefánsson, D. Gudbjartsson, A. Sigurdsson, 2017, Nature genetics.

Identification of sequence variants influencing immunoglobulin levels

Bjarni V. Halldórsson, A. Gylfason, B. Halldórsson, 2017, Nature Genetics.

Sequence variant at 4q25 near PITX2 associates with appendicitis

D. Gudbjartsson, L. Kiemeney, U. Thorsteinsdóttir, 2017, Scientific Reports.

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

H. Stefánsson, D. Gudbjartsson, A. Sigurdsson, 2017, Nature Genetics.

A common variant at 8 q 24 . 21 is associated with renal cell cancer

D. Gudbjartsson, L. Kiemeney, U. Thorsteinsdóttir, 2017 .

Common and rare variants associated with kidney stones and biochemical traits

D. Gudbjartsson, U. Thorsteinsdóttir, K. Stefánsson, 2015, Nature Communications.

Mutations in BRIP 1 / FANCJ confer high risk of ovarian cancer

Kari, Gisli, A. Gylfason, 2015 .

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

Kari Stefansson, Kang Zhang, Gudmar Thorleifsson, 2013, Nature Genetics.

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

Kari Stefansson, Gudmar Thorleifsson, Jon Hrafnkelsson, 2012, Nature Genetics.

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

Paolo Vineis, Abbas Ghaderi, Simonetta Guarrera, 2011, Human molecular genetics.

MEPE loss-of-function variant associates with decreased bone mineral density and increased fracture risk

Andrew L Blumenfeld, G. Abecasis, H. Kang, 2020, Nature Communications.

Lifelong Reduction in LDL Cholesterol Due to a Gain-of-Function Mutation in LDLR.

Bjarni V. Halldórsson, H. Stefánsson, B. Halldórsson, 2020, Circulation. Genomic and precision medicine.

Genetic Correction of PSA Values Using Sequence Variants Associated with PSA Levels

A. Gylfason, D. Gudbjartsson, A. Sigurdsson, 2010, Science Translational Medicine.

A catalog of genetic loci associated with kidney function from analyses of a million individuals

Karsten B. Sieber, M. P. Concas, Nicholette D. Palmer, 2019, Nature Genetics.

A genetic risk factor for periodic limb movements in sleep.

Kari Stefansson, Alex Iranzo, Hreinn Stefansson, 2007, The New England journal of medicine.

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

S. Steinberg, D. Gudbjartsson, L. Kiemeney, 2008, Nature Genetics.

Genome-wide association meta-analysis of PR interval identifies 47 novel loci associated with atrial and atrioventricular electrical activity

Dana, Henry J. Lin, Maristella, 2018, bioRxiv.

Identification of genomic loci associated with resting heart rate and shared genetic predictors with all-cause mortality

Stephen Burgess, Kari Stefansson, Pim van der Harst, 2016, Nature Genetics.

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

D. Gudbjartsson, L. Kiemeney, U. Thorsteinsdóttir, 2010, PLoS Genetics.

Predicting the probability of death using proteomics

H. Stefánsson, D. Gudbjartsson, U. Thorsteinsdóttir, 2021, Communications biology.

Variants in NKX2-5 and FLNC Cause Dilated Cardiomyopathy and Sudden Cardiac Death

D. Gudbjartsson, A. Jonasdottir, Á. Jónasdóttir, 2018, Circulation. Genomic and precision medicine.

Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene

D. Gudbjartsson, A. Jonasdottir, Á. Jónasdóttir, 2022, Nature Communications.

Differences between germline genomes of monozygotic twins

Hannes P. Eggertsson, Bjarni V. Halldórsson, A. Gylfason, 2021, Nature Genetics.

Differences between germline genomes of monozygotic twins

Hannes P. Eggertsson, Bjarni V. Halldórsson, A. Gylfason, 2021, Nature Genetics.

Impact of Selection Bias on Estimation of Subsequent Event Risk

P. Deloukas, T. Lehtimäki, D. Gudbjartsson, 2017, Circulation. Cardiovascular genetics.

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

Bjarni V. Halldórsson, B. Halldórsson, D. Gudbjartsson, 2018, Nature Genetics.

Author Correction: The rate of meiotic gene conversion varies by sex and age

A. Gylfason, B. Halldórsson, D. Gudbjartsson, 2018, Nature Genetics.

Meta-analysis of erosive hand osteoarthritis identifies four common variants that associate with relatively large effect

D. Gudbjartsson, L. Kiemeney, U. Thorsteinsdóttir, 2023, Annals of the Rheumatic Diseases.

Effect of booster vaccination against Delta and Omicron SARS-CoV-2 variants in Iceland

A. Gylfason, D. Gudbjartsson, U. Thorsteinsdóttir, 2022, Nature Communications.

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

R. Mägi, D. Gudbjartsson, T. Thorgeirsson, 2011, Human molecular genetics.

Effect of sequence variants on variance in glucose levels predicts type 2 diabetes risk and accounts for heritability

D. Gudbjartsson, U. Thorsteinsdóttir, K. Stefánsson, 2017, Nature Genetics.

Genetic effects on the timing of parturition and links to fetal birth weight

Scott M. Williams, R. T. Lie, M. Jarvelin, 2022, Nature Genetics.

Multiple transmissions of de novo mutations in families

Hannes P. Eggertsson, Bjarni V. Halldórsson, A. Gylfason, 2018, Nature Genetics.

Allegro Version 2.0 Manual

D. Gudbjartsson, 2005 .

Generation Scotland

E. Demerath, K. Lunetta, J. Murabito, 2015 .

Eighty-eight variants highlight the role of T cell regulation and airway remodeling in asthma pathogenesis

A. Gylfason, B. Halldórsson, D. Gudbjartsson, 2020, Nature Communications.

Sequence variants affecting voice pitch in humans

Bjarni V. Halldórsson, H. Stefánsson, B. Halldórsson, 2023, Science advances.

Sequence variants at CYP 1 A 1 – CYP 1 A 2 and AHR associate with coffee consumption

R. Mägi, D. Gudbjartsson, T. Thorgeirsson, 2011 .

Dyslipidemia, inflammation, calcification, and adiposity in aortic stenosis: a genome-wide study

D. Gudbjartsson, U. Thorsteinsdóttir, K. Stefánsson, 2023, European heart journal.

Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters

Gudmundur A. Thorisson, D. Gudbjartsson, A. Sigurdsson, 2017, BMC Medical Genetics.

Correction for Schumann et al., Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption

P. O’Reilly, P. Elliott, L. Coin, 2011, Proceedings of the National Academy of Sciences.

Addictions and their familiality in Iceland

H. Stefánsson, D. Gudbjartsson, T. Thorgeirsson, 2010, Annals of the New York Academy of Sciences.

Predicting the probability of death using proteomics

H. Stefánsson, D. Gudbjartsson, U. Thorsteinsdóttir, 2021, Communications Biology.

Augustine Kong Recombination Rate Gene Associate with Genome-Wide RNF 212 Sequence Variants in the

H. Stefánsson, D. Gudbjartsson, Á. Jónasdóttir, 2022 .

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

Gunnar Stefansson, Asgeir Sigurdsson, Kári Stefánsson, 2015, Int. J. Data Min. Bioinform..

Cartilage Acidic Protein 1 in Plasma Associates With Prevalent Osteoarthritis and Predicts Future Risk as Well as Progression to Joint Replacements: Results From the UK Biobank Resource

D. Gudbjartsson, U. Thorsteinsdóttir, K. Stefánsson, 2022, Arthritis & Rheumatology.

Physical and cognitive impact following SARS-CoV-2 infection in a large population-based case-control study

H. Stefánsson, E. Sigurdsson, D. Gudbjartsson, 2023, Communications medicine.

Molecular benchmarks of a SARS-CoV-2 epidemic

Hannes P. Eggertsson, A. Gylfason, D. Gudbjartsson, 2021, Nature Communications.

Sequence variant affects GCSAML splicing, mast cell specific proteins, and risk of urticaria

Grimur Hjorleifsson Eldjarn, Bjarni V. Halldórsson, B. Halldórsson, 2023, Communications biology.

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

H. Stefánsson, A. Ingason, D. Gudbjartsson, 2017, npj Genomic Medicine.

Understanding the genetic complexity of puberty timing across the allele frequency spectrum

M. P. Concas, M. Jarvelin, E. Demerath, 2023, medRxiv.

Early Spread of SARS-Cov-2 in the Icelandic Population

A. Gylfason, D. Gudbjartsson, A. Sigurdsson, 2020, medRxiv.

Evaluation of Association of HNF1B Variants with Diverse Cancers: Collaborative Analysis of Data from 19 Genome-Wide Association Studies

J. Murabito, M. McCarthy, E. Zeggini, 2010, PloS one.

Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality

R. T. Lie, Bjarni V. Halldórsson, M. Daly, 2023, Nature communications.

the Risk of Myocardial Infarction A Common Variant on Chromosome 9 p 21 Affects

A. Gylfason, D. Gudbjartsson, A. Sigurdsson, 2008 .

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

D. Gudbjartsson, U. Thorsteinsdóttir, K. Stefánsson, 2018, Nature Communications.

Epigenetic and genetic components of height regulation

D. Gudbjartsson, U. Thorsteinsdóttir, A. Kong, 2016, Nature Communications.

Large-scale genomic analyses link reproductive ageing to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

Andrew D. Johnson, E. Demerath, Toshiko Tanaka, 2015 .

15q11.2 CNV affects cognitive, structural and functional correlates of dyslexia and dyscalculia

D Brandeis, M Brammer, H. Stefánsson, 2017, Translational Psychiatry.

Sequence variants affecting the genome-wide rate of germline microsatellite mutations

Hannes P. Eggertsson, Pall I. Olason, Bjarni V. Halldórsson, 2023, Nature communications.

Screening for Rare Coding Variants That Associate With the QTc Interval in Iceland

D. Gudbjartsson, K. Stefánsson, P. Sulem, 2023, Journal of the American Heart Association.

Genetic insights into resting heart rate and its role in cardiovascular disease

M. P. Concas, Henry J. Lin, S. Bandinelli, 2023, Nature communications.

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

Andrew D. Johnson, Thomas W. Mühleisen, M. Nalls, 2014, Nature Genetics.

Identification of heart rate–associated loci and their effects on cardiac conduction and rhythm disorders

May E. Montasser, H. M. Draisma, K. Lunetta, 2013 .

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

Andrew D. Johnson, Daniel L. Koller, E. Demerath, 2010 .

Evaluation of Large-Scale Proteomics for Prediction of Cardiovascular Events.

D. Gudbjartsson, U. Thorsteinsdóttir, K. Stefánsson, 2023, JAMA.

Histopathology and levels of proteins in plasma associate with survival after colorectal cancer diagnosis.

D. Gudbjartsson, U. Thorsteinsdóttir, K. Stefánsson, 2023, British journal of cancer.

The germline sequence variant rs2736100_C in TERT associates with myeloproliferative neoplasms

A Sigurdsson, G Masson, D. Gudbjartsson, 2014, Leukemia.

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

Andrew D. Johnson, Daniel L. Koller, E. Demerath, 2010 .

Associations of autozygosity with a broad range of human phenotypes

May E. Montasser, Annelot M. Dekker, Blair H. Smith, 2019, Nature Communications.

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

S. Steinberg, D. Gudbjartsson, T. Thorgeirsson, 2015, Translational Psychiatry.

Corrigendum: Rare coding variants and X-linked loci associated with age at menarche

E. Demerath, K. Lunetta, J. Murabito, 2015, Nature Communications.

Mapping the human genetic architecture of COVID-19

Mattia G. Bergomi, Christopher M. DeBoever, Matthew A. Wiles, 2021, Nature.

A rare missense variant in NR1H4 associates with lower cholesterol levels

D. Gudbjartsson, A. Sigurdsson, A. Jonasdottir, 2018, Communications Biology.

Cholesterol not particle concentration mediates the atherogenic risk conferred by apolipoprotein B particles - A Mendelian randomization analysis.

D. Gudbjartsson, U. Thorsteinsdóttir, K. Stefánsson, 2022, European journal of preventive cardiology.

The inheritance of rheumatoid arthritis in Iceland.

D. Gudbjartsson, J. Gulcher, K. Stefánsson, 2001, Arthritis and rheumatism.

Seventy-five genetic loci influencing the human red blood cell

Lorna M. Lopez, P. O’Reilly, P. Elliott, 2012, Nature.

A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin

D. Gudbjartsson, U. Thorsteinsdóttir, K. Stefánsson, 2018, Communications Biology.

Complex effects of sequence variants on lipid levels and coronary artery disease

Bjarni V. Halldórsson, D. Gudbjartsson, T. Thorgeirsson, 2023, Cell.

A second update on mapping the human genetic architecture of COVID-19

M. A. Hakim Newton, Jack D. Sanders, Jonathan H. Morgan, 2022, Nature.

Nature Genetics Advance Online Publication Large-scale Genomic Analyses Link Reproductive Aging to Hypothalamic Signaling, Breast Cancer Susceptibility and Brca1-mediated Dna Repair

D. J. Thompson, E. Demerath, K. Lunetta, 2022 .

Parent-of-origin specific allelic associations among 106 genomic loci for age at menarche

John P. Rice, Daniel L. Koller, D. J. Thompson, 2014, Nature.

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

H. Stefánsson, D. Gudbjartsson, T. Thorgeirsson, 2019, Nature Communications.

Coding variants in RPL3L and MYZAP increase risk of atrial fibrillation

Bjarni V. Halldórsson, D. Gudbjartsson, U. Thorsteinsdóttir, 2018, Communications Biology.

Genetic loci and prioritization of genes for kidney function decline derived from a meta-analysis of 62 longitudinal genome-wide association studies LifeLines Cohort

Karsten B. Sieber, Laurent F. Thomas, Pashupati P. Mishra, 2022 .

A rare missense mutation in CHRNA4 associates with smoking behavior and its consequences

S. Steinberg, D. Gudbjartsson, T. Thorgeirsson, 2016, Molecular Psychiatry.

Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6

Henry J. Lin, Blair H. Smith, M. Waldenberger, 2018, Genome Biology.

Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption

P. O’Reilly, P. Elliott, M. Jarvelin, 2011, Proceedings of the National Academy of Sciences.

Diversity in non-repetitive human sequences not found in the reference genome

Bjarni V. Halldórsson, B. Halldórsson, D. Gudbjartsson, 2017, Nature Genetics.

Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits

Hannes P. Eggertsson, Bjarni V. Halldórsson, B. Halldórsson, 2021, Nature Genetics.

Biobank-driven genomic discovery yields new insight into atrial fibrillation biology

Tanya M. Teslovich, Jonathan H. Chung, Ryan D. Crawford, 2018, Nature Genetics.

Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways

Lorna M. Lopez, E. Demerath, K. Lunetta, 2012, Nature Genetics.

Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura

Jens K. Boldsen, Pall I. Olason, Bjarni V. Halldórsson, 2023, Nature Genetics.

Erratum to “MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans”

D. Gudbjartsson, A. Kong, M. Frigge, 2000, Nature Genetics.

A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids.

Christopher D. Brown, Aaron F. McDaid, M. P. Concas, 2022, American journal of human genetics.

The nature of nurture: Effects of parental genotypes

Bjarni V. Halldórsson, B. Halldórsson, D. Gudbjartsson, 2017, Science.

Genetics and epidemiology of mutational barcode-defined clonal hematopoiesis

D. Gudbjartsson, T. Thorgeirsson, U. Thorsteinsdóttir, 2023, Nature Genetics.

Large-scale plasma proteomics comparisons through genetics and disease associations

Pall I. Olason, Grimur Hjorleifsson Eldjarn, Bjarni V. Halldórsson, 2023, Nature.

Common Sequence Variants Associated With Coronary Artery Disease Correlate With the Extent of Coronary Atherosclerosis

D. Gudbjartsson, U. Thorsteinsdóttir, K. Stefánsson, 2015, Arteriosclerosis, thrombosis, and vascular biology.

Actionable Genotypes and Their Association with Life Span in Iceland.

Gudmundur A. Thorisson, Hannes P. Eggertsson, H. Stefánsson, 2023, The New England journal of medicine.

Physical and neurobehavioral determinants of reproductive onset and success

D. Gudbjartsson, U. Thorsteinsdóttir, A. Kong, 2016, Nature Genetics.

Combining Polygenic and Proteomic Risk Scores With Clinical Risk Factors to Improve Performance for Diagnosing Absence of Coronary Artery Disease in Patients With de novo Chest Pain

D. Gudbjartsson, K. Stefánsson, H. Hólm, 2023, Circulation. Genomic and precision medicine.

Identification of heart rate–associated loci and their effects on cardiac conduction and rhythm disorders

Kathleen F. Kerr, May E. Montasser, M. Jarvelin, 2013, Nature Genetics.

Evaluation of Association of HNF1B Variants with Diverse Cancers: Collaborative Analysis of Data from 19 Genome-Wide Association Studies

Aleksandar, Manal M. Hassan, Shannon M. Lynch, 2010, PloS one.

Variants with Diverse Cancers : Collaborative Analysis of Data from 19 Genome-Wide Association Studies

J. Murabito, E. Zeggini, D. Gudbjartsson, 2010 .

Evaluation of Association of HNF 1 B Variants with Diverse Cancers : Collaborative Analysis of Data from 19 Genome-Wide Association Studies

J. Murabito, E. Zeggini, D. Gudbjartsson, 2010 .

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

D. Gudbjartsson, A. Sigurdsson, A. Jonasdottir, 2015, Nature Genetics.

Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

E. Demerath, K. Lunetta, J. Murabito, 2017, Nature Genetics.

Effects of a 5-lipoxygenase-activating protein inhibitor on biomarkers associated with risk of myocardial infarction: a randomized trial.

D. Gudbjartsson, J. Gulcher, A. Kong, 2005, Journal of the American Medical Association (JAMA).

Nature Genetics Advance Online Publication Large-scale Genomic Analyses Link Reproductive Aging to Hypothalamic Signaling, Breast Cancer Susceptibility and Brca1-mediated Dna Repair

John D. Eicher, Samuel E. Jones, C. Gieger, 2022 .