Author details

Full Name

Jona Saemundsdottir

Affiliation

ORCID

Career Start Year

2003

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37301908	Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality.	Nat Commun	2023
37606673	Evaluation of Large-Scale Proteomics for Prediction of Cardiovascular Events.	JAMA	2023
37937776	Actionable Genotypes and Their Association with Life Span in Iceland.	N Engl J Med	2023
37596405	Histopathology and levels of proteins in plasma associate with survival after colorectal cancer diagnosis.	Br J Cancer	2023
37794188	Large-scale plasma proteomics comparisons through genetics and disease associations.	Nature	2023
37414856	Physical and cognitive impact following SARS-CoV-2 infection in a large population-based case-control study.	Commun Med (Lond)	2023
37400429	Publisher Correction: Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality.	Nat Commun	2023
35121750	Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene.	Nat Commun	2022
35650273	Genetic architecture of band neutrophil fraction in Iceland.	Commun Biol	2022
36125206	Cholesterol not particle concentration mediates the atherogenic risk conferred by apolipoprotein B particles: a Mendelian randomization analysis.	Eur J Prev Cardiol	2022
35859178	The sequences of 150,119 genomes in the UK Biobank.	Nature	2022
35182757	Reconstruction of a large-scale outbreak of SARS-CoV-2 infection in Iceland informs vaccination strategies.	Clin Microbiol Infect	2022
34857953	Large-scale integration of the plasma proteome with genetics and disease.	Nat Genet	2021
34145379	Predicting the probability of death using proteomics.	Commun Biol	2021
34131116	Molecular benchmarks of a SARS-CoV-2 epidemic.	Nat Commun	2021
33315477	Lifelong Reduction in LDL (Low-Density Lipoprotein) Cholesterol due to a Gain-of-Function Mutation in <i>LDLR</i>.	Circ Genom Precis Med	2021
34462577	Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population database.	Eur J Hum Genet	2021
32871063	Humoral Immune Response to SARS-CoV-2 in Iceland.	N Engl J Med	2020
32289214	Spread of SARS-CoV-2 in the Icelandic Population.	N Engl J Med	2020
31666285	Common and Rare Sequence Variants Influencing Tumor Biomarkers in Blood.	Cancer Epidemiol Biomarkers Prev	2020
32327693	Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis.	Commun Biol	2020
31865966	Lipoprotein(a) Concentration and Risks of Cardiovascular Disease and Diabetes.	J Am Coll Cardiol	2019
29767749	Association of BRCA2 K3326* With Small Cell Lung Cancer and Squamous Cell Cancer of the Skin.	J Natl Cancer Inst	2018
30361506	A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease.	Nat Commun	2018
30271932	A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin.	Commun Biol	2018
27742809	A frameshift deletion in the sarcomere gene MYL4 causes early-onset familial atrial fibrillation.	Eur Heart J	2017
28965491	Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters.	BMC Med Genet	2017
29137621	COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA.	BMC Med Genet	2017
25807286	Large-scale whole-genome sequencing of the Icelandic population.	Nat Genet	2015
24861552	Genome-wide association study yields variants at 20p12.2 that associate with urinary bladder cancer.	Hum Mol Genet	2014
21983786	Identification of low-frequency variants associated with gout and serum uric acid levels.	Nat Genet	2011
21378987	A rare variant in MYH6 is associated with high risk of sick sinus syndrome.	Nat Genet	2011
20622881	Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm.	Nat Genet	2010
19578363	New common variants affecting susceptibility to basal cell carcinoma.	Nat Genet	2009
19182806	Variant in the sequence of the LINGO1 gene confers risk of essential tremor.	Nat Genet	2009
19079262	New sequence variants associated with bone mineral density.	Nat Genet	2009
18991354	Risk variants for atrial fibrillation on chromosome 4q25 associate with ischemic stroke.	Ann Neurol	2008
18438407	Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer.	Nat Genet	2008
18385739	A variant associated with nicotine dependence, lung cancer and peripheral arterial disease.	Nature	2008
18849993	Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits.	Nat Genet	2008
18445777	Multiple genetic loci for bone mineral density and fractures.	N Engl J Med	2008
17529974	Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer.	Nat Genet	2007
17401366	Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24.	Nat Genet	2007
16415884	Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes.	Nat Genet	2006
12851856	Localization of a susceptibility gene for type 2 diabetes to chromosome 5q34-q35.2.	Am J Hum Genet	2003