Gudmundur A. Thorisson
Reykjavik, Iceland
Last Updated: 09/26/2026
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Found 10 publications
Missense variants in FRS3 affect body mass index in populations of diverse ancestries.
Journal: Nature communications
Published: May 22, 2024
Actionable Genotypes and Their Association with Life Span in Iceland.
Journal: The New England journal of medicine
Published: November 08, 2023
Start codon variant in LAG3 is associated with decreased LAG-3 expression and increased risk of autoimmune thyroid disease.
Journal: Nature communications
Published: September 15, 2023
A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease.
Journal: Nature communications
Published: January 29, 2018
Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters.
Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters.
Journal: BMC medical genetics
Published: June 20, 2017
COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA.
Journal: BMC medical genetics
Published: March 10, 2017
Quantifying the use of bioresources for promoting their sharing in scientific research.
Journal: GigaScience
Published: January 17, 2013
VarioML framework for comprehensive variation data representation and exchange.
Journal: BMC bioinformatics
Published: May 14, 2012
Semantically enabling a genome-wide association study database.
Journal: Journal of biomedical semantics
Published: April 03, 2012
Observ-OM and Observ-TAB: Universal syntax solutions for the integration, search, and exchange of phenotype and genotype information.
Journal: Human mutation
Published: December 21, 2011
Showing 1-10 of 10
Last Updated: 09/26/2026