GraphTyper2 enables population-scale genotyping of structural variation using pangenome graphs HP Eggertsson, S Kristmundsdottir, D Beyter, H Jonsson, A Skuladottir, ... Nature communications 10 (1), 5402, 2019 | 136 | 2019 |
Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology G Bjornsdottir, L Stefansdottir, G Thorleifsson, P Sulem, K Norland, ... Nature communications 13 (1), 634, 2022 | 30 | 2022 |
MAP1B mutations cause intellectual disability and extensive white matter deficit GB Walters, O Gustafsson, G Sveinbjornsson, VK Eiriksdottir, ... Nature communications 9 (1), 3456, 2018 | 27 | 2018 |
Sequence variants in TAAR5 and other loci affect human odor perception and naming RS Gisladottir, EV Ivarsdottir, A Helgason, L Jonsson, NK Hannesdottir, ... Current Biology 30 (23), 4643-4653. e3, 2020 | 25 | 2020 |
A genome-wide meta-analysis uncovers six sequence variants conferring risk of vertigo AT Skuladottir, G Bjornsdottir, MS Nawaz, H Petersen, S Rognvaldsson, ... Communications biology 4 (1), 1148, 2021 | 21 | 2021 |
A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome AT Skuladottir, G Bjornsdottir, E Ferkingstad, G Einarsson, L Stefansdottir, ... Nature communications 13 (1), 1598, 2022 | 14 | 2022 |
A meta-analysis uncovers the first sequence variant conferring risk of Bell’s palsy AT Skuladottir, G Bjornsdottir, G Thorleifsson, GB Walters, MS Nawaz, ... Scientific reports 11 (1), 4188, 2021 | 14 | 2021 |
A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy G Bjornsdottir, EV Ivarsdottir, K Bjarnadottir, S Benonisdottir, ... Nature communications 10 (1), 1777, 2019 | 10 | 2019 |
GraphTyper2 enables population-scale genotyping of structural variation using pangenome graphs. Nat. Commun. 10, 5402 HP Eggertsson, S Kristmundsdottir, D Beyter, H Jonsson, A Skuladottir, ... | 7 | 2019 |
Sequence variants affecting voice pitch in humans RS Gisladottir, A Helgason, BV Halldorsson, H Helgason, M Borsky, ... Science Advances 9 (23), eabq2969, 2023 | 4 | 2023 |
Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura G Bjornsdottir, MA Chalmer, L Stefansdottir, AT Skuladottir, G Einarsson, ... Nature Genetics 55 (11), 1843-1853, 2023 | 3 | 2023 |
Sequence variant affects GCSAML splicing, mast cell specific proteins, and risk of urticaria RP Kristjansson, GR Oskarsson, A Skuladottir, A Oddsson, ... Communications Biology 6 (1), 703, 2023 | 3 | 2023 |
Thirty novel sequence variants impacting human intracranial volume MS Nawaz, G Einarsson, M Bustamante, RS Gisladottir, GB Walters, ... Brain Communications 4 (6), fcac271, 2022 | 1 | 2022 |
GWAS meta-analysis reveals key risk loci in essential tremor pathogenesis AT Skuladottir, L Stefansdottir, GH Halldorsson, OA Stefansson, ... Communications Biology 7 (1), 504, 2024 | | 2024 |
A genome-wide meta-analysis identifies 53 sequence variants associating with carpal tunnel syndrome A Skuladottir, G Bjornsdottir, E Ferkingstad, G Einarsson, L Stefansdottir, ... | | 2022 |
ACCECPTED MANUSCRIPT MS Nawaz, G Einarsson, M Bustamante, RS Gisladottir, GB Walters, ... | | 2022 |
Author Correction: Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology (Nature Communications,(2022), 13, 1,(634 … G Bjornsdottir, L Stefansdottir, G Thorleifsson, P Sulem, K Norland, ... | | 2022 |
Premutations in C9ORF72 and FMR1 in Iceland Á Skúladóttir | | |