Run H. Fridriksdottir
Reykjavik, Iceland
Last Updated: 09/26/2026
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Found 24 publications
Sequence Diversity Lost in Early Pregnancy.
Journal: Obstetrical & gynecological survey
Published: November 25, 2025
A novel spliceosomopathy caused by de novo SF3B3 variants.
Journal: Genome medicine
Published: April 26, 2025
Missense variants in FRS3 affect body mass index in populations of diverse ancestries.
Journal: Nature communications
Published: May 22, 2024
Homozygosity for a stop-gain variant in CCDC201 causes primary ovarian insufficiency.
Journal: Nature genetics
Published: February 01, 2024
Rare loss-of-function variants in HECTD2 and AKAP11 confer risk of bipolar disorder.
Journal: Nature genetics
Published: January 18, 2024
Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes.
Journal: European journal of human genetics : EJHG
Published: January 17, 2024
Actionable Genotypes and Their Association with Life Span in Iceland.
Journal: The New England journal of medicine
Published: November 08, 2023
Screening for Rare Coding Variants That Associate With the QTc Interval in Iceland.
Journal: Journal of the American Heart Association
Published: July 14, 2023
A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome.
Journal: European journal of human genetics : EJHG
Published: September 20, 2022
Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality.
Journal: Nature communications
Published: July 14, 2022
Last Updated: 09/26/2026