Á. Jónasdóttir

发表

Large recurrent microdeletions associated with schizophrenia

Thomas W. Mühleisen, Bjarni V. Halldórsson, P. Matthews, 2008, Nature.

A rare IL33 loss-of-function mutation reduces blood eosinophil counts and protects from asthma

D. Gudbjartsson, A. Sigurdsson, A. Jonasdottir, 2017, PLoS genetics.

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

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

Genetics of gene expression and its effect on disease

H. Stefánsson, R. Fossdal, D. Gudbjartsson, 2008, Nature.

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

Gerard Tromp, Helena Kuivaniemi, Kari Stefansson, 2010, Nature Genetics.

Fine-scale recombination rate differences between sexes, populations and individuals

A. Gylfason, D. Gudbjartsson, A. Sigurdsson, 2010, Nature.

A Common Variant on Chromosome 9p21 Affects the Risk of Myocardial Infarction

A. Gylfason, D. Gudbjartsson, A. Sigurdsson, 2007, Science.

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.

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.

Graphtyper enables population-scale genotyping using pangenome graphs

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

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

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

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

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

MAP1B mutations cause intellectual disability and extensive white matter deficit

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

Genetic architecture of band neutrophil fraction in Iceland

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

Identification of Lynch syndrome risk variants in the Romanian population

Hannes P. Eggertsson, B. Halldórsson, A. Sigurdsson, 2018, Journal of cellular and molecular medicine.

Genome-wide common and rare variant analysis provides novel insights into clozapine-associated neutropenia

M. Daly, H. Stefánsson, D. Rujescu, 2016, Molecular Psychiatry.

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.

Severe osteoarthritis of the hand associates with markers within the ALDH1A2 gene and with very rare variants at 1p31

T. Spector, A. Sigurdsson, Á. Jónasdóttir, 2017 .

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.

Multi-nucleotide de novo Mutations in Humans

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

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.

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.

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.

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

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

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.

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.

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

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

Rare mutations associating with serum creatinine and chronic kidney disease.

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

Mutations in BRIP1 confer high risk of ovarian cancer

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

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

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

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.

The rate of meiotic gene conversion varies by sex and age

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

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

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

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

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

A whole genome association study in multiple sclerosis patients from north Portugal

R. Fossdal, Á. Jónasdóttir, S. Sawcer, 2003, Journal of Neuroimmunology.

A whole genome association study in Finnish multiple sclerosis patients with 3669 markers

R. Fossdal, Á. Jónasdóttir, J. Gulcher, 2003, Journal of Neuroimmunology.

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

Kari Stefansson, Evangelos Evangelou, Fernando Rivadeneira, 2014, Nature Genetics.

A genome-wide screen for association in Hungarian multiple sclerosis

R. Fossdal, Á. Jónasdóttir, S. Sawcer, 2003, Journal of Neuroimmunology.

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

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

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.

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.

Large-Scale Screening for Monogenic and Clinically Defined Familial Hypercholesterolemia in Iceland

Bjarni V. Halldórsson, B. Halldórsson, A. Jonasdottir, 2021, Arteriosclerosis, thrombosis, and vascular biology.

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

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

A germline variant in the TP53 polyadenylation signal confers cancer susceptibility

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

Graphtyper: Population-scale genotyping using pangenome graphs

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

The germline sequence variant rs2736100_C in TERT associates with myeloproliferative neoplasms

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

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.

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 rare missense variant in NR1H4 associates with lower cholesterol levels

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

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.

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

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

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

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

Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population database

A. Jonasdottir, Á. Jónasdóttir, U. Thorsteinsdóttir, 2021, European Journal of Human 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.

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.

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.

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

Kari, Gisli, A. Gylfason, 2015 .

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

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

Syddansk Universitet Variant ASGR1 associated with a reduced risk of coronary artery disease

A. Sigurdsson, Á. Jónasdóttir, L. Kiemeney, 2016 .

Polymorphism of PRNP codons in the normal Icelandic population

Á. Jónasdóttir, G. Georgsson, S. Gudmundsson, 2006, Acta neurologica Scandinavica.

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.

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

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

Genome-wide common and rare variant analysis provides novel insights into clozapine-associated neutropenia

H. Stefánsson, D. Rujescu, A. Jonasdottir, 2016, Molecular Psychiatry.

Genome-wide linkage screen of a consanguineous multiple sclerosis kinship

Á. Jónasdóttir, J. Gulcher, K. Stefánsson, 2003, Multiple sclerosis.

Multiple transmissions of de novo mutations in families

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

A genomic screen of Spanish multiple sclerosis patients reveals multiple loci associated with the disease

Pablo Villoslada, Arcadi Navarro, Xavier Montalban, 2003, Journal of Neuroimmunology.

Erratum: Genome-wide common and rare variant analysis provides novel insights into clozapine-associated neutropenia

M. Daly, H. Stefánsson, D. Rujescu, 2016, Molecular Psychiatry.

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

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

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

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

Molecular benchmarks of a SARS-CoV-2 epidemic

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

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

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

A genome wide linkage disequilibrium screen in Parkinson’s disease

Á. Jónasdóttir, K. Stefánsson, S. Sawcer, 2005, Journal of Neurology.

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

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

A rare missense variant in NR1H4 associates with lower cholesterol levels

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

A whole genome association study in Icelandic multiple sclerosis patients with 4804 markers

R. Fossdal, A. Jonasdottir, Á. Jónasdóttir, 2003, Journal of Neuroimmunology.

A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome

A. Sigurdsson, A. Jonasdottir, Á. Jónasdóttir, 2023, European journal of human genetics : EJHG.

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.

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.

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.

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.