• BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories 

      Hovland, Henrikke Nilsen; Al-Adhami, Rafal; Ariansen, Sarah Louise; Van Ghelue, Marijke; Sjursen, Wenche; Anfinsen, Sigrid Lima; Bolstad, Marte; Berger, Amund Holte; Vetti, Hildegunn Høberg; Knappskog, Per Morten; Haukanes, Bjørn Ivar; Aukrust, Ingvild; Ognedal, Elisabet (Peer reviewed; Journal article, 2022)
      Pathogenic germline variants in Breast cancer susceptibility gene 1 (BRCA1) predispose carriers to hereditary breast and ovarian cancer (HBOC). Through genetic testing of patients with suspected HBOC an increasing number ...
    • GWAS for autoimmune Addison's disease identifies multiple risk loci and highlights AIRE in disease susceptibility 

      Eriksson, Daniel; Røyrvik, Ellen Christine; Aranda-Guillen, Maribel; Berger, Amund Holte; Landegren, Nils; Artaza, Haydee; Hallgren, Åsa; Grytaas, Marianne; Strøm, Sara; Bratland, Eirik; Botusan, Ileana; Oftedal, Bergithe Eikeland; Breivik, Lars Ertesvåg; Vaudel, Marc; Helgeland, Øyvind; Falorni, Alberto; Jørgensen, Anders Palmstrøm; Hulting, Anna-Lena; Svartberg, Johan; Ekwall, Olov; Fougner, Kristian J; Wahlberg, Jeanette; Nedrebø, Bjørn Gunnar; Dahlqvist, Per; Study group, Norwegian Addison Registry; Study Group, Swedish Addison Registry; Knappskog, Per Morten; Wolff, Anette Susanne Bøe; Bensing, Sophie; Johansson, Stefan; Kämpe, Olof; Husebye, Eystein Sverre (Peer reviewed; Journal article, 2021)
      Autoimmune Addison’s disease (AAD) is characterized by the autoimmune destruction of the adrenal cortex. Low prevalence and complex inheritance have long hindered successful genetic studies. We here report the first ...