A. Skuladottir

发表

GraphTyper2 enables population-scale genotyping of structural variation using pangenome graphs

Hannes P. Eggertsson, Bjarni V. Halldórsson, B. Halldórsson, 2019, Nature Communications.

Premutations in C9ORF72 and FMR1 in Iceland

A. Skuladottir, 2019 .

MAP1B mutations cause intellectual disability and extensive white matter deficit

H. Stefánsson, A. Ingason, S. Steinberg, 2018, Nature Communications.

Thirty novel sequence variants impacting human intracranial volume

H. Stefánsson, E. Sigurdsson, D. Gudbjartsson, 2022, Brain communications.

A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome

H. Stefánsson, D. Gudbjartsson, T. Thorgeirsson, 2022, Nature Communications.

A genome-wide meta-analysis identi es 53 sequence variants associating with carpal tunnel syndrome

H. Stefánsson, K. Stefánsson, I. Jónsdóttir, 2022 .

A genome-wide meta-analysis uncovers six sequence variants conferring risk of vertigo

H. Stefánsson, D. Rujescu, D. Gudbjartsson, 2021, Communications Biology.

A meta-analysis uncovers the first sequence variant conferring risk of Bell’s palsy

Hannes P. Eggertsson, Brynja D. Sigurpálsdóttir, Pall I. Olason, 2021, Scientific Reports.

miR-199a expression and its targets during development in different Arctic charr morphs

A. Skuladottir, 2014 .

MAP1B mutations cause intellectual disability and extensive white matter deficit

H. Stefánsson, A. Ingason, S. Steinberg, 2018, Nature Communications.

Sequence Variants in TAAR5 and Other Loci Affect Human Odor Perception and Naming

Bjarni V. Halldórsson, H. Stefánsson, B. Halldórsson, 2020, Current Biology.

Author Correction: Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology

Laurent F. Thomas, J. V. van Meurs, R. Mägi, 2022, Nature Communications.

Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology

Laurent F. Thomas, J. V. van Meurs, R. Mägi, 2022, Nature communications.

A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy

H. Stefánsson, D. Gudbjartsson, T. Thorgeirsson, 2019, Nature Communications.

Sequence variants affecting voice pitch in humans

Bjarni V. Halldórsson, H. Stefánsson, B. Halldórsson, 2023, Science advances.

Sequence variant affects GCSAML splicing, mast cell specific proteins, and risk of urticaria

Grimur Hjorleifsson Eldjarn, Bjarni V. Halldórsson, B. Halldórsson, 2023, Communications biology.

A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy

H. Stefánsson, D. Gudbjartsson, T. Thorgeirsson, 2019, Nature Communications.

Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura

Jens K. Boldsen, Pall I. Olason, Bjarni V. Halldórsson, 2023, Nature Genetics.

Loss-of-function variants in ITSN1 confer high risk of Parkinson’s disease

H. Stefánsson, D. Gudbjartsson, T. Thorgeirsson, 2024, NPJ Parkinson's disease.

GWAS meta-analysis reveals key risk loci in essential tremor pathogenesis

Jens K. Boldsen, H. Stefánsson, D. Gudbjartsson, 2024, Communications biology.

Biallelic variants in POPDC2 cause a novel autosomal recessive syndrome presenting with cardiac conduction defects and variable hypertrophic cardiomyopathy

Gardar Sveinbjornsson, P. Postema, H. Hólm, 2024, medRxiv.