cnvScan: a CNV screening and annotation tool to improve the clinical utility of computational CNV prediction from exome sequencing data

Por Samarakoon, Pubudu Saneth, Sorte, Hanne Sørmo, Stray-Pedersen, Asbjørg, Rødningen, Olaug Kristin, Rognes, Torbjørn, Lyle, Robert
Publicado no BMC Genomics (2016)

A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1

Por Johnsrud, Irene, Kulseth, Mari Ann, Rødningen, Olaug Kristin, Landrø, Linn, Helsing, Per, Waage Nielsen, Erik, Heimdal, Ketil
Publicado no PLoS One (2015)

Correction: A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1

Por Johnsrud, Irene, Kulseth, Mari Ann, Rødningen, Olaug Kristin, Landrø, Linn, Helsing, Per, Waage Nielsen, Erik, Heimdal, Ketil
Publicado no PLoS One (2015)

Identification of copy number variants from exome sequence data

Por Samarakoon, Pubudu Saneth, Sorte, Hanne Sørmo, Kristiansen, Bjørn Evert, Skodje, Tove, Sheng, Ying, Tjønnfjord, Geir E, Stadheim, Barbro, Stray-Pedersen, Asbjørg, Rødningen, Olaug Kristin, Lyle, Robert
Publicado em 2014

Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability

Por Barøy, Tuva, Misceo, Doriana, Strømme, Petter, Stray-Pedersen, Asbjørg, Holmgren, Asbjørn, Rødningen, Olaug Kristin, Blomhoff, Anne, Helle, Johan Robert, Stormyr, Alice, Tvedt, Bjørn, Fannemel, Madeleine, Frengen, Eirik
Publicado em 2013

Primary immunodeficiency diseases – genomic approaches delineate heterogeneous Mendelian disorders

Por Stray-Pedersen, Asbjørg, Sorte, Hanne Sørmo, Samarakoon, Pubudu, Gambin, Tomasz, Chinn, Ivan K., Akdemir, Zeynep H. Coban, Erichsen, Hans Christian, Forbes, Lisa R., Gu, Shen, Yuan, Bo, Jhangiani, Shalini N., Muzny, Donna M., Rødningen, Olaug Kristin, Sheng, Ying, Nicholas, Sarah K., Noroski, Lenora M., Seeborg, Filiz O., Davis, Carla, Canter, Debra, Mace, Emily M., Vece, Tim, Allen, Carl E., Abhyankar, Harshal A., Boone, Phil, Beck, Christine R., Wiszniewski, Wojciech Krysztof, Fevang, Børre, Aukrust, Pål, Tjønnfjord, Geir E, Gedde-Dahl, Tobias, Hjorth-Hansen, Henrik, Dybedal, Ingunn, Nordøy, Ingvild, Jørgensen, Silje F., Abrahamsen, Tore G., Øverland, Torstein, Bechensteen, Anne Grete, Skogen, Vegard, Osnes, Liv T., Kulseth, Mari Ann, Prescott, Trine E., Rustad, Cecilie F., Heimdal, Ketil R., Belmont, John W., Rider, Nicholas, Chinen, Javier, Cao, Tram, Smith, Eric, Caldirola, Maria Soledad, Bezrodnik, Liliana, Reyes, Saul Oswaldo Lugo, Rosales, Francisco J. Espinosa, Guerrero, Denisse, Pedroza, Luis Alberto, Poli, Cecilia M., Franco, Jose L., Vargas, Claudia M. Trujillo, Becerra, Juan Carlos Aldave, Wright, Nicola, Issekutz, Thomas B., Issekutz, Andrew C., Abbott, Jordan, Caldwell, Jason W., Bayer, Diana K., Chan, Alice Y., Aiuti, Alessandro, Cancrini, Caterina, Holmberg, Eva, West, Christina, Burstedt, Magnus, Karaca, Ender, Yesil, Gozde, Artac, Hasibe, Bayram, Yavuz, Atik, Mehmed Musa, Eldomery, Mohammad K., Ehlayel, Mohammad S., Jolles, Stephen, Flatø, Berit, Bertuch, Alison A., Hanson, I. Celine, Zhang, Victor W., Wong, Lee-Jun, Hu, Jianhong, Walkiewicz, Magdalena, Yang, Yaping, Eng, Christine, Boerwinkle, Eric, Gibbs, Richard A., Shearer, William T., Lyle, Robert, Orange, Jordan S., Lupski, James R.
Publicado no J Allergy Clin Immunol (2016)