• 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 ...
    • Genetic and clinical basis for two distinct subtypes of primary Sjögren's syndrome 

      Thorlacius, Gudny Ella; Hultin-Rosenberg, Lina; Sandling, Johanna K.; Bianchi, Matteo; Imgenberg-Kreuz, Juliana; Theander, Elke; Kvarnström, Marika; Forsblad-d’Elia, Helena; Bucher, Sara Magnusson; Norheim, Katrine Brække; Johnsen, Svein Joar Auglænd; Hammenfors, Sten Daniel; Skarstein, Kathrine; Jonsson, Malin V; Bäcklund, Eva; consortium, the DISSECT; meadows, jennifer r; Rantapää-Dahlqvist, Solbritt; Mandl, Thomas; Eriksson, Per; Omdal, Roald; Jonsson, Sten Ture Roland; Lindblad-Toh, Kerstin; Rönnblom, Lars; Wahren-Herlenius, Marie; Nordmark, Gunnel (Journal article; Peer reviewed, 2020)
      Objectives Clinical presentation of primary Sjögren’s syndrome (pSS) varies considerably. A shortage of evidence-based objective markers hinders efficient drug development and most clinical trials have failed to reach ...