• Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality 

      Oddsson, Asmundur; Sulem, Patrick; Sveinbjornsson, Gardar; Arnadottir, Gudny A.; Steinthorsdottir, Valgerdur; Halldorsson, Gisli H.; Atlason, Bjarni A.; Oskarsson, Gudjon R.; Helgason, Hannes; Nielsen, Henriette Svarre; Westergaard, David; Karjalainen, Juha; Katrinardottir, Hildigunnur; Fridriksdottir, Run; Jensson, Brynjar O.; Tragante, Vinicius; Ferkingstad, Egil; Jónsson, Hákon; Gudjonsson, Sigurjon A.; Beyter, Doruk; Moore, Kristjan H.S.; Thordardottir, Helga B.; Kristmundsdottir, Snædis; Stefansson, Olafur A.; Rantapää Dahlqvist, Solbritt; Sonderby, Ida Elken; Didriksen, Maria; Stridh, Pernilla; Haavik, Jan; Tryggvadottir, Laufey; Frei, Oleksandr; Walters, G. Bragi; Kockum, Ingrid; Hjalgrim, Henrik; Olafsdottir, Thorunn A; Selbæk, Geir; Nyegaard, Mette; Erikstrup, Christian; Brodersen, Thorsten; Sævarsdottir, Sædis; Olsson, Tomas; Nielsen, Kaspar Rene; Haraldsson, Àsgeir; Bruun, Mie Topholm; Hansen, Thomas Folkmann; Steingrimsdottir, Thora; Jacobsen, Rikke Louise; Lie, Rolv T.; Djurovic, Srdjan; Alfredsson, Lars; Portilla, A.L.; Brunak, Søren; Havdahl, Alexandra; Andreassen, Ole (Journal article; Peer reviewed, 2023)
      Genotypes causing pregnancy loss and perinatal mortality are depleted among living individuals and are therefore difficult to find. To explore genetic causes of recessive lethality, we searched for sequence variants with ...
    • Identification of biomarkers for glycaemic deterioration in type 2 diabetes 

      Slieker, Roderick C.; Donnelly, Louise A.; Akalestou, Elina; Lopez-Noriega, Livia; Melhem, Rana; Güneş, Ayşim; Abou Azar, Frederic; Efanov, Alexander; Georgiadou, Eleni; Muniangi-Muhitu, Hermine; Sheikh, Mahsa; Giordano, Giuseppe N.; Åkerlund, Mikael; Ahlqvist, Emma; Ali, Ashfaq; Banasik, Karina; Brunak, Søren; Barovic, Marko; Bouland, Gerard A.; Burdet, Frédéric; Canouil, Mickaël; Dragan, Iulian; Elders, Petra J. M.; Fernandez, Celine; Festa, Andreas; Fitipaldi, Hugo; Froguel, Phillippe; Gudmundsdottir, Valborg; Gudnason, Vilmundur; Gerl, Mathias J.; van der Heijden, Amber A.; Jennings, Lori L.; Hansen, Michael K.; Kim, Min; Leclerc, Isabelle; Klose, Christian; Kuznetsov, Dmitry; Mansour Aly, Dina; Mehl, Florence; Marek, Diana; Melander, Olle; Niknejad, Anne; Ottosson, Filip; Pavo, Imre; Duffin, Kevin; Syed, Samreen K.; Shaw, Janice L.; Cabrera, Over; Pullen, Timothy J.; Simons, Kai; Solimena, Michele; Suvitaival, Tommi; Wretlind, Asger; Rossing, Peter; Lyssenko, Valeriya; Legido Quigley, Cristina; Groop, Leif; Thorens, Bernard; Franks, Paul W.; Lim, Gareth E.; Estall, Jennifer; Ibberson, Mark; Beulens, Joline W. J.; ’t Hart, Leen M; Pearson, Ewan R.; Rutter, Guy A. (Journal article; Peer reviewed, 2023)
      We identify biomarkers for disease progression in three type 2 diabetes cohorts encompassing 2,973 individuals across three molecular classes, metabolites, lipids and proteins. Homocitrulline, isoleucine and 2-aminoadipic ...
    • Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura 

      Bjornsdottir, Gyda; Chalmer, Mona A.; Stefansdottir, Lilja; Skuladottir, Astros Th.; Einarsson, Gudmundur; Andresdottir, Margret; Beyter, Doruk; Ferkingstad, Egil; Gretarsdottir, Solveig; Halldorsson, Bjarni V.; Halldorsson, Gisli H.; Helgadottir, Anna; Helgason, Hannes; Hjorleifsson Eldjarn, Grimur; Jonasdottir, Adalbjorg; Jonasdottir, Aslaug; Jonsdottir, Ingileif; Knowlton, Kirk U.; Nadauld, Lincoln D.; Lund, Sigrun H.; Magnusson, Olafur Th.; Melsted, Pall; Moore, Kristjan H. S.; Oddsson, Asmundur; Olason, Pall I.; Sigurdsson, Asgeir; Stefansson, Olafur A.; Saemundsdottir, Jona; Sveinbjornsson, Gardar; Tragante, Vinicius; Unnsteinsdottir, Unnur; Walters, G. Bragi; Zink, Florian; Rødevand, Linn; Andreassen, Ole; Igland, Jannicke; Lie, Rolv T.; Haavik, Jan; Banasik, Karina; Brunak, Søren; Didriksen, Maria; T. Bruun, Mie; Erikstrup, Christian; Kogelman, Lisette J. A.; Nielsen, Kaspar R.; Sørensen, Erik; Pedersen, Ole B.; Ullum, Henrik; Bay, Jakob; Boldsen, Jens K.; Brodersen, Thorsten; Burgdorf, Kristoffer; Dinh, Khoa M.; Dowsett, Joseph; Feenstra, Bjarke; Geller, Frank; Hindhede, Lotte; Hjalgrim, Henrik; Jacobsen, Rikke L.; Jemec, Gregor; Kaspersen, Katrine; Kjerulf, Bertram D.; Larsen, Margit A. H.; Louloudis, Ioannis; Lundgaard, Agnete; Mikkelsen, Susan; Mikkelsen, Christina; Nissen, Ioanna; Nyegaard, Mette; Henriksen, Alexander P.; Rohde, Palle D.; Rostgaard, Klaus; Swinn, Michael; Thørner, Lise W.; Bruun, Mie T.; Werge, Thomas; Westergaard, David; Masson, Gisli; Thorsteinsdottir, Unnur; Olesen, Jes; Ludvigsson, Petur; Thorarensen, Olafur; Bjornsdottir, Anna; Sigurdardottir, Gudrun R.; Sveinsson, Olafur A.; Ostrowski, Sisse R.; Holm, Hilma; Gudbjartsson, Daniel F.; Thorleifsson, Gudmar; Sulem, Patrick; Stefansson, Hreinn; Thorgeirsson, Thorgeir E.; Hansen, Thomas F; Stefansson, Kari (Journal article; Peer reviewed, 2023)
      Migraine is a complex neurovascular disease with a range of severity and symptoms, yet mostly studied as one phenotype in genome-wide association studies (GWAS). Here we combine large GWAS datasets from six European ...