Brynjar O. Jensson

发表

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.

Spread of SARS-CoV-2 in the Icelandic Population

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

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

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

The sequences of 150,119 genomes in the UK Biobank

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

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

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

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

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

Humoral Immune Response to SARS-CoV-2 in Iceland

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

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

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

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.

Multiple transmissions of de novo mutations in families

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

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

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

NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum

K. Stefánsson, O. Thorarensen, U. Engelke, 2021, Frontiers in Neurology.

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.

Molecular benchmarks of a SARS-CoV-2 epidemic

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

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

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

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

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

A rare missense variant in NR1H4 associates with lower cholesterol levels

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

Factor B Mutation in Monozygotic Twins Discordant for Atypical Hemolytic Uremic Syndrome

P. Sulem, R. Palsson, D. Karpman, 2023, Kidney international reports.

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

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

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.

Special project Connective Tissue Biomechanics and Modelling

Brynjar O Jensson, Brynjar O. Jensson, 2014 .

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.

Genetic architecture of band neutrophil fraction in Iceland

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

Epigenetic and genetic components of height regulation

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

Recurrence of de novo mutations in families

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

Epigenetic and genetic components of height regulation

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

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.

Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency

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

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.

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

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

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.

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

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

A rare missense variant in NR1H4 associates with lower cholesterol levels

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