• The expressed mutational landscape of microsatellite stable colorectal cancers 

      Sveen, Anita; Johannessen, Bjarne; Eilertsen, Ina Andrassy; Røsok, Bård Ingvald; Gulla, Marie; Eide, Peter Andreas Wold; Bruun, Jarle; Kryeziu, Kushtrim; Meza, Leonardo Zepeda; Myklebost, Ola; Bjørnbeth, Bjørn Atle; Skotheim, Rolf I.; Nesbakken, Arild; Lothe, Ragnhild Adelheid (Journal article; Peer reviewed, 2021)
      Background Colorectal cancer is the 2nd leading cause of cancer-related deaths with few patients benefiting from biomarker-guided therapy. Mutation expression is essential for accurate interpretation of mutations as ...
    • Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders 

      Mannucci, Ilaria; Dang, Nghi D. P.; Huber, Hannes; Murry, Jaclyn B.; Abramson, Jeff; Althoff, Thorsten; Banka, Siddharth; Baynam, Gareth; Bearden, David; Beleza-Meireles, Ana; Benke, Paul J.; Berland, Siren; Bierhals, Tatjana; Bilan, Frédéric; Bindoff, Laurence A.; Braathen, Geir Julius; Busk, Øyvind; Chenbhanich, Jirat; Denecke, Jonas; Escobar, Luis F.; Estes, Caroline; Fleischer, Julie; Groepper, Daniel; Haaxma, Charlotte A.; Hempel, Maja; Holler-Managan, Yolanda; Houge, Gunnar Douzgos; Jackson, Adam; Kellogg, Laura; Keren, Boris; Kiraly-Borri, Catherine; Kraus, Cornelia; Kubisch, Christian; Le Guyader, Gwenaël; Ljungblad, Ulf Wike; Martinez-Agosto, Julian A.; Brenman, Leslie Manace; Might, Matthew; Miller, David T.; Minks, Kelly Q.; Moghaddam, Billur; Nava, Caroline; Nelson, Stanley F.; Parant, John M.; Prescott, Trine; Rajabi, Farrah; Randrianaivo, Hanitra; Reiter, Simone B. C. Frizell; Schuurs-Hoeijmakers, Janneke; Shieh, Perry B.; Slavotinek, Anne; Smithson, Sarah; Stegmann, Alexander P. A.; Tomczak, Kinga; Tveten, Kristian; Wang, Jun; Whitlock, Jordan H.; Zweier, Christiane; McWalter, Kirsty; Juusola, Jane; Quintero-Rivera, Fabiola; Fischer, Utz; Yeo, Nan Cher; Kreienkamp, Hans-Jürgen; Lessel, Davor (Journal article; Peer reviewed, 2021)
      Background: We aimed to define the clinical and variant spectrum and to provide novel molecular insights into the DHX30-associated neurodevelopmental disorder. Methods: Clinical and genetic data from affected individuals ...