Ástrós Skúladóttir

deCODE Genetics (Iceland) — IS

Biochemistry, Genetics and Molecular Biology · Life Sciences

11h-index582citations26works5.82yr avg
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Research Topics

RNA Research and Splicing(3), Genomic variations and chromosomal abnormalities(3), Genomics and Rare Diseases(3), Genetics and Neurodevelopmental Disorders(3), Genetic Neurodegenerative Diseases(2)

Publications26 total

Variant in a Taste Receptor Locus Tied to Changes in the Use of Insomnia Medication
Biological Psychiatry Global Open Science·2025Open Access
The genetic architecture of fibromyalgia across 2.5 million individuals
2025Open Access
Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy
The American Journal of Human Genetics·2025· 1 citedOpen Access
Rare loss-of-function variants in HECTD2 and AKAP11 confer risk of bipolar disorder
Nature Genetics·2025· 7 citedOpen Access
Genome-wide meta-analysis of myasthenia gravis uncovers new loci and provides insights into polygenic prediction
UNC Libraries·2024Open Access
Genome-wide meta-analysis of myasthenia gravis uncovers new loci and provides insights into polygenic prediction
Nature Communications·2024· 11 citedOpen Access
Loss-of-function variants in ITSN1 confer high risk of Parkinson’s disease
npj Parkinson s Disease·2024· 11 citedOpen Access
Biallelic variants in <i>POPDC2</i> cause a novel autosomal recessive syndrome presenting with cardiac conduction defects and variable hypertrophic cardiomyopathy
2024Open Access
Homozygosity for R47H in <i>TREM2</i> and the Risk of Alzheimer’s Disease
New England Journal of Medicine·2024· 11 cited
GWAS meta-analysis reveals key risk loci in essential tremor pathogenesis
Communications Biology·2024· 17 citedOpen Access
Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura
Nature Genetics·2023· 48 citedOpen Access
Sequence variant affects GCSAML splicing, mast cell specific proteins, and risk of urticaria
Communications Biology·2023· 6 citedOpen Access
Sequence variants affecting voice pitch in humans
Science Advances·2023· 18 citedOpen Access
Thirty novel sequence variants impacting human intracranial volume
Brain Communications·2022· 7 citedOpen Access
Author Correction: Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology
Nature Communications·2022· 2 citedOpen Access
A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome
Nature Communications·2022· 20 citedOpen Access
Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology
Nature Communications·2022· 56 citedOpen Access
A genome-wide meta-analysis identifies 53 sequence variants associating with carpal tunnel syndrome
2022· 3 citedOpen Access
A genome-wide meta-analysis uncovers six sequence variants conferring risk of vertigo
Communications Biology·2021· 48 citedOpen Access
A meta-analysis uncovers the first sequence variant conferring risk of Bell’s palsy
Scientific Reports·2021· 15 citedOpen Access
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Frequent Co-authors

Hreinn Stefánsson(24), Daníel F. Guðbjartsson(21), Kāri Stefánsson(17), Gyða Björnsdóttir(17), Patrick Sulem(15), G. Bragi Walters(14), Ingileif Jónsdóttir(14), Garðar Sveinbjörnsson(13), Ole Birger Pedersen(13), Thorgeir E. Thorgeirsson(12), Lilja Stefánsdóttir(11), Guðmar Þorleifsson(10), Christian Erikstrup(10), Mie Topholm Bruun(10), Erna V. Ivarsdottir(10), Ásmundur Oddsson(9), Muhammad Sulaman Nawaz(9), Gísli H. Halldórsson(9), Erik Sørensen(9), Unnur Þorsteinsdóttir(9)