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Author

Hildigunnur Katrínardóttir

Observed name: Hildigunnur Katrinardottir
Observed institution: deCODE Genetics (Iceland)
OpenAlex ID: A5032878632
Large-scale integration of the plasma proteome with genetics and disease
2021 · Egil Ferkingstad, Patrick Sulem, et al. · Nature Genetics · 1,680
Actionable Genotypes and Their Association with Life Span in Iceland
2023 · Brynjar O. Jensson, Gudny A. Arnadottir, et al. · New England Journal of Medicine · 53
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome
2022 · Sarah E.M. Stephenson, Gregory Costain, et al. · The American Journal of Human Genetics · 44
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Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis
2020 · Gudjon R. Oskarsson, Asmundur Oddsson, et al. · Communications Biology · 43
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Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality
2023 · Asmundur Oddsson, Patrick Sulem, et al. · Nature Communications · 14
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PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response
2024 · Wallid Deb, Cory Rosenfelt, et al. · The American Journal of Human Genetics · 11
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Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene
2022 · Gudny A. Arnadottir, Asmundur Oddsson, et al. · Nature Communications · 11
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A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome
2023 · Elin Ola Klemenzdottir, Gudny Anna Arnadottir, et al. · European Journal of Human Genetics · 10
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Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency
2021 · Hrafnhildur L. Runolfsdottir, John A. Sayer, et al. · European Journal of Human Genetics · 10
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Sequence variant affects GCSAML splicing, mast cell specific proteins, and risk of urticaria
2023 · Ragnar P. Kristjansson, Gudjon R. Oskarsson, et al. · Communications Biology · 8
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Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population database
2021 · Run Fridriksdottir, Arnar J. Jonsson, et al. · European Journal of Human Genetics · 6
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Screening for Rare Coding Variants That Associate With the QTc Interval in Iceland
2023 · Gardar Sveinbjornsson, Bara D. Benediktsdottir, et al. · Journal of the American Heart Association · 4
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Genetic architecture of band neutrophil fraction in Iceland
2022 · Gudjon R. Oskarsson, Magnus K. Magnusson, et al. · Communications Biology · 2
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Publisher Correction: Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality
2023 · Asmundur Oddsson, Patrick Sulem, et al. · Nature Communications · 1
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Congenital insensitivity to pain caused by a novel SCN9A genotype
2026 · Thorsteinn Bjornsson, Elias Olafsson, et al. · Læknablaðið
0424 Closing the Gender Gap in Sleep Apnea Diagnosis: AI-Enhanced Home Sleep Testing
2025 · Þóra Sigmarsdóttir, Vaka Valsdóttir, et al. · SLEEP
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0451 Improving Diagnostic Accuracy in Sleep Apnea Through Respiratory Based Home Sleep Tests
2025 · Þóra Sigmarsdóttir, Vaka Valsdóttir, et al. · SLEEP
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S113. Intraoperative recording of somatosensory evoked potentials from both peripheral median nerve and proximal upper trunk to assess C5, C6 brachial plexus injury
2018 · Ovidiu C. Banea, Ingvar Hákon Ólafsson, et al. · Clinical Neurophysiology
Finite Element Modeling of Chest Compressions in CPR
2017 · Hildigunnur Katrínardóttir · KTH Publication Database DiVA (KTH Royal Institute of Technology)
Works count: 19
Citation count: 1,894
H-index: 9
I10-index: 9
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