Author details

Full Name

Gisli Masson

Affiliation

ORCID

Career Start Year

1999

Papers

123

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
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
37386006	Sequence variants affecting the genome-wide rate of germline microsatellite mutations.	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
35859178	The sequences of 150,119 genomes in the UK Biobank.	Nature	2022
35470158	Multiomics analysis of rheumatoid arthritis yields sequence variants that have large effects on risk of the seropositive subset.	Ann Rheum Dis	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
36070241	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.	BMJ Open	2021
33972781	Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits.	Nat Genet	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
33414551	Differences between germline genomes of monozygotic twins.	Nat Genet	2021
32581359	FLT3 stop mutation increases FLT3 ligand level and risk of autoimmune thyroid disease.	Nature	2020
31959851	Eighty-eight variants highlight the role of T cell regulation and airway remodeling in asthma pathogenesis.	Nat Commun	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
32871063	Humoral Immune Response to SARS-CoV-2 in Iceland.	N Engl J Med	2020
30992453	A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy.	Nat Commun	2019
30476138	Sequence variants associating with urinary biomarkers.	Hum Mol Genet	2019
30643255	A loss-of-function variant in ALOX15 protects against nasal polyps and chronic rhinosinusitis.	Nat Genet	2019
30679340	Characterizing mutagenic effects of recombination through a sequence-level genetic map.	Science	2019
31053729	GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures.	Nat Commun	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
30504769	Genome-wide association meta-analysis yields 20 loci associated with gallstone disease.	Nat Commun	2018
30397338	Multiple transmissions of de novo mutations in families.	Nat Genet	2018
30349119	Insights into imprinting from parent-of-origin phased methylomes and transcriptomes.	Nat Genet	2018
30104764	Relatedness disequilibrium regression estimates heritability without environmental bias.	Nat Genet	2018
30194396	Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits.	Nat Commun	2018
30237445	Author Correction: The rate of meiotic gene conversion varies by sex and age.	Nat Genet	2018
30374069	Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1 and 13 more new loci associated with osteoarthritis.	Nat Genet	2018
30410027	Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA.	Nat Commun	2018
30271932	A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin.	Commun Biol	2018
30271901	A rare missense variant in <i>NR1H4</i> associates with lower cholesterol levels.	Commun Biol	2018
29335549	Reconstructing an African haploid genome from the 18th century.	Nat Genet	2018
29371463	The nature of nurture: Effects of parental genotypes.	Science	2018
28223688	Sequence variant at 8q24.21 associates with sciatica caused by lumbar disc herniation.	Nat Commun	2017
28959963	Parental influence on human germline de novo mutations in 1,548 trios from Iceland.	Nature	2017
28466842	Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2.	Nat Commun	2017
28385611	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.	Urol Oncol	2017
28945251	Graphtyper enables population-scale genotyping using pangenome graphs.	Nat Genet	2017
28585551	Sequence variants in ARHGAP15, COLQ and FAM155A associate with diverticular disease and diverticulitis.	Nat Commun	2017
28628107	Identification of sequence variants influencing immunoglobulin levels.	Nat Genet	2017