• Ancient genomes from Iceland reveal the making of a human population 

      Ebenesersdóttir, Sigríður Sunna; Sandoval-Velasco, Marcela; Gunnarsdóttir, Ellen D.; Jagadeesan, Anuradha; Guðmundsdóttir, Valdís B.; Thordardóttir, Elísabet L.; Einarsdóttir, Margrét S.; Moore, Kristjan H. S.; Sigurðsson, Ásgeir; Magnúsdóttir, Droplaug N.; Jónsson, Hákon; Snorradóttir, Steinunn; Hovig, Eivind; Møller, Pål; Kockum, Ingrid; Olsson, Tomas; Alfredsson, Lars; Hansen, Thomas F.; Werge, Thomas; Cavalleri, Gianpiero L.; Gilbert, Edmund; Lalueza-Fox, Carles; Walser III, Joe W.; Kristjánsdóttir, Steinunn; Gopalakrishnan, Shyam; Arnadottir, Lilja; Magnússon, Ólafur Þ.; Gilbert, Marcus Thomas Pius; Stefánsson, Kári; Helgason, Agnar (Journal article; Peer reviewed, 2018)
      Opportunities to directly study the founding of a human population and its subsequent evolutionary history are rare. Using genome sequence data from 27 ancient Icelanders, we demonstrate that they are a combination of ...
    • The Norwegian PMS2 founder mutation c.989-1G>T shows high penetrance of microsatellite instable cancers with normal immunohistochemistry 

      Grindedal, Eli Marie; Aarset, Harald; Bjørnevoll, Inga; Røyset, Elin Synnøve; Mæhle, Lovise Olaug; Stormorken, Astrid T.; Heramb, Cecilie; Medvik, Heidi; Møller, Pål; Sjursen, Wenche (Journal article; Peer reviewed, 2014)
      Background Using immunohistochemistry (IHC) to select cases for mismatch repair (MMR) genetic testing, we failed to identify a large kindred with the deleterious PMS2 mutation c.989-1G > T. The purpose of the study was ...