• Auxilin is a novel susceptibility gene for congenital heart block which directly impacts fetal heart function 

      Meisgen, Sabrina; Hedlund, Malin; Ambrosi, Aurelie; Folkersen, Lasse; Ottosson, Vijole; Forsberg, David; Thorlacius, Gudny Ella; Biavati, Luca; Strandberg, Linn; Mofors, Johannes; Ramskold, Daniel; Ruhrmann, Sabrina; Meneghel, Lauro; Nyberg, William; Espinosa, Alexander; Hamilton, Robert Murray; Franco-Cereceda, Anders; Hamsten, Anders; Olsson, Tomas; Greene, Lois; Eriksson, Per; Gemzell-Danielsson, Kristina; Salomonsson, Stina; Kuchroo, Vijay K; Herlenius, Eric; Kockum, Ingrid; Sonesson, Sven-Erik; Herlenius, Marie Elisabeth Wahren (Journal article; Peer reviewed, 2022)
      Objective: Neonatal lupus erythematosus (NLE) may develop after transplacental transfer of maternal autoantibodies with cardiac manifestations (congenital heart block, CHB) including atrioventricular block, atrial and ...
    • 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 ...
    • Identity-by-descent mapping in a Scandinavian multiple sclerosis cohort 

      Westerlind, Helga; Imrell, Kerstin; Ramanujam, Ryan; Myhr, Kjell-Morten; Celius, Elisabeth Gulowsen; Harbo, Hanne Flinstad; Oturai, Annette Bang; Hamsten, Anders; Alfredsson, Lars; Olsson, Tomas; Kockum, Ingrid; Koski, Timo; Hillert, Jan (Peer reviewed; Journal article, 2015)
      In an attempt to map chromosomal regions carrying rare gene variants contributing to the risk of multiple sclerosis (MS), we identified segments shared identical-by-descent (IBD) using the software BEAGLE 4.0’s refined IBD ...