Opin vísindi

Browsing by Author "Stefansson, Hreinn"

Browsing by Author "Stefansson, Hreinn"

Sort by: Order: Results:

  • Icon
    Attention-deficit hyperactivity disorder shares copy number variant risk with schizophrenia and autism spectrum disorder 
    Guðmundsson, Ólafur Ó.; Walters, G. Bragi; Ingason, Andrés; Johansson, Stefan; Zayats, Tetyana; Athanasiu, Lavinia; Sonderby, Ida Elken; Gústafsson, Ómar; Nawaz, Muhammad S.; Jónsson, Guðbjörn F.; Jonsson, Lina; Knappskog, Per-Morten; Ingvarsdóttir, Ester; Daviðsdóttir, Katrín; Djurovic, Srdjan; Knudsen, Gun Peggy Strømstad; Askeland, Ragna Bugge; Haraldsdóttir, Gyða S.; Baldursson, Gísli; Magnússon, Páll; Sigurdsson, Engilbert; Gudbjartsson, Daniel; Stefansson, Hreinn; Andreassen, Ole A.; Haavik, Jan; Reichborn-Kjennerud, Ted; Stefansson, Kari (Springer Science and Business Media LLC, 2019-10-17)
    Attention-deficit/hyperactivity disorder (ADHD) is a highly heritable common childhood-onset neurodevelopmental disorder. Some rare copy number variations (CNVs) affect multiple neurodevelopmental disorders such as intellectual disability, autism ...
  • Icon
    Brain age prediction using deep learning uncovers associated sequence variants 
    Jónsson, Benedikt Atli; Bjornsdottir, Gyda; Thorgeirsson, Thorgeir; Ellingsen, Lotta María; Walters, G. Bragi; Gudbjartsson, Daniel; Stefansson, Hreinn; Stefansson, Kari; Ulfarsson, Magnus (Springer Science and Business Media LLC, 2019-11-27)
    Machine learning algorithms can be trained to estimate age from brain structural MRI. The difference between an individual’s predicted and chronological age, predicted age difference (PAD), is a phenotype of relevance to aging and brain disease. Here, ...
  • Icon
    Fourteen sequence variants that associate with multiple sclerosis discovered by meta-analysis informed by genetic correlations 
    Ólafsson, Sigurgeir; Stridh, Pernilla; Bos, Steffan Daniël; Ingason, Andrés; Euesden, Jack; Sulem, Patrick; Thorleifsson, Gudmar; Gústafsson, Ómar; Jóhannesson, Ari; Geirsson, Árni J.; Þórsson, Árni V.; Sigurgeirsson, Bárður; Lúðvíksson, Björn Rúnar; Ólafsson, Elías; Kristjansdottir, Helga; Jónasson, Jón G.; Ólafsson, Jón Hjaltalín; Örvar, Kjartan B.; Benediktsson, Rafn; Bjarnason, Ragnar Grímur; Kristjánsdóttir, Sjöfn; Gíslason, Þórarinn; Valdimarsson, Trausti; Mikaelsdóttir, Evgenía; Sigurðsson, Snævar; Jonsson, Stefan; Rafnar, Þórunn; Aarsland, Dag; Djurovic, Srdjan; Fladby, Tormod; Knudsen, Gun Peggy; Celius, Elisabeth G.; Myhr, Kjell-Morten; Gröndal, Gerður; Steinsson, Kristján; Valdimarsson, Helgi; Björnsson, Sigurður; Björnsdóttir, Unnur Steina; Björnsson, Einar Stefán; Nilsson, Bjorn; Andreassen, Ole A.; Alfredsson, Lars; Hillert, Jan; Kockum, Ingrid Skelton; Masson, Gisli; Thorsteinsdottir, Unnur; Gudbjartsson, Daniel; Stefansson, Hreinn; Hjaltason, Haukur; Harbo, Hanne F.; Olsson, Tomas; Jonsdottir, Ingileif; Stefansson, Kari (Springer Nature, 2017-08-08)
    A meta-analysis of publicly available summary statistics on multiple sclerosis combined with three Nordic multiple sclerosis cohorts (21,079 cases, 371,198 controls) revealed seven sequence variants associating with multiple sclerosis, not reported ...
  • Icon
    MAP1B mutations cause intellectual disability and extensive white matter deficit 
    Walters, G. Bragi; Gústafsson, Ómar; Sveinbjornsson, Gardar; Eiriksdottir, Valgerdur Kristin; Ágústsdóttir, Arna B.; Jónsdóttir, Guðrún A.; Steinberg, Stacy; Gunnarsson, Árni F.; Magnússon, Magnús I.; Unnsteinsdóttir, Unnur; Lee, Amy L.; Jónasdóttir, Aðalbjörg; Sigurðsson, Ásgeir; Jónasdóttir, Áslaug; Skúladóttir, Ástrós; Jonsson, Lina; Nawaz, Muhammad S.; Sulem, Patrick; Frigge, Mike; Ingason, Andrés; Love, Askell; Norðdahl, Guðmundur L.; Zervas, Mark; Gudbjartsson, Daniel; Ulfarsson, Magnus; Sæmundsen, Evald E.; Stefansson, Hreinn; Stefansson, Kari (Springer Science and Business Media LLC, 2018-08-27)
    Discovery of coding variants in genes that confer risk of neurodevelopmental disorders is an important step towards understanding the pathophysiology of these disorders. Wholegenome sequencing of 31,463 Icelanders uncovers a frameshift variant ...
  • Icon
    A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy 
    Bjornsdottir, Gyda; Ívarsdóttir, Erna V.; Bjarnadóttir, Kristbjörg; Benonisdottir, Stefania; Gylfadottir, Sandra Sif; Arnadottir, Gudny; Benediktsson, Rafn; Halldorsson, Gisli; Helgadottir, Anna; Jónasdóttir, Aðalbjörg; Jónasdóttir, Áslaug; Jonsdottir, Ingileif; Kristinsdóttir, Anna Margrét; Magnússon, Ólafur T.; Másson, Gísli; Melsted, Páll; Rafnar, Thorunn; Sigurðsson, Ásgeir; Sigurdsson, Gunnar; Skúladóttir, Ástrós; Steinthorsdottir, Valgerdur; Styrkarsdottir, Unnur; Thorgeirsson, Gudmundur; Thorleifsson, Gudmar; Vikingsson, Arnor; Gudbjartsson, Daniel; Holm, Hilma; Stefansson, Hreinn; Thorsteinsdottir, Unnur; Norðdahl, Guðmundur L.; Sulem, Patrick; Thorgeirsson, Thorgeir; Stefansson, Kari (Springer Science and Business Media LLC, 2019-04-16)
    Nerve conduction (NC) studies generate measures of peripheral nerve function that can reveal underlying pathology due to axonal loss, demyelination or both. We perform a genome-wide association study of sural NC amplitude and velocity in 7045 Icelanders ...
  • Icon
    Reciprocal White Matter Changes Associated With Copy Number Variation at 15q11.2 BP1-BP2: A Diffusion Tensor Imaging Study 
    Silva, Ana I.; Ulfarsson, Magnus; Stefansson, Hreinn; Gústafsson, Ómar; Walters, G. Bragi; Linden, David E.J.; Wilkinson, Lawrence S.; Drakesmith, Mark; Owen, Michael J.; Hall, Jeremy; Stefansson, Kari (Elsevier BV, 2019-04-01)
    Background: The 15q11.2 BP1-BP2 cytogenetic region has been associated with learning and motor delays, autism, and schizophrenia. This region includes a gene that codes for the cytoplasmic FMR1 interacting protein 1 (CYFIP1). The CYFIP1 protein is ...