Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.

Stray-Pedersen, Asbjorg; Stray-Pedersen, A; Sorte, Hanne; Sorte, HS; Samarakoon, Pubudu; Samarakoon, P; Gambin, Tomasz; Gambin, T; Chinn, Ivan; Chinn, IK; Akdemir, Zeynep; Coban, Akdemir; Erichsen, Hans; Erichsen, HC; Forbes, Lisa; Forbes, LR; Gu, Shen; Gu, S; Yuan, Bo; Yuan, B; Jhangiani, Shalini; Jhangiani, SN; Muzny, Donna; Muzny, DM; Rodningen, Olaug; Rødningen, OK; Sheng, Ying; Sheng, Y; Nicholas, Sarah; Nicholas, SK; Noroski, Lenora; Noroski, LM; Seeborg, Filiz; Seeborg, FO; Davis, Carla; Davis, CM; Canter, Debra; Canter, DL; Mace, Emily; Mace, EM; Vece, Timothy; Vece, TJ; Allen, Carl; Allen, CE; Abhyankar, Harshal; Abhyankar, HA; Boone, Philip; Boone, PM; Beck, Christine; Beck, CR; Wiszniewski, Wojciech; Wiszniewski, W; Fevang, Borre; Fevang, B; Aukrust, Pal; Aukrust, P; Tjonnfjord, Geir; Tjønnfjord, GE; Gedde-Dahl, Tobias; Gedde-Dahl, T; Hjorth-Hansen, H; Hjorth-Hansen, Henrik; Dybedal, I; Dybedal, Ingunn; Nordøy, I; Nordoy, Ingvild; Jørgensen, SF; Jorgensen, Silje; Abrahamsen, TG; Abrahamsen, Tore; Øverland, T; Overland, Torstein; Bechensteen, AG; Bechensteen, Anne; Skogen, V; Skogen, Vegard; Osnes, LTN; Osnes, Liv; Kulseth, MA; Kulseth, Mari; Prescott, TE; Prescott, Trine; Rustad, CF; Rustad, Cecilie; Heimdal, KR; Heimdal, Ketil; Belmont, JW; Belmont, John; Rider, NL; Rider, Nicholas; Chinen, J; Chinen, Javier; Cao, TN; Cao, Tram; Smith, EA; Smith, Eric; Caldirola, MS; Soledad Caldirola, Maria; Bezrodnik, L; Bezrodnik, Liliana; Lugo, Reyes; Lugo Reyes, Saul; Espinosa, Rosales; Espinosa Rosales, Francisco; Guerrero-Cursaru, ND; Guerrero-Cursaru, Nina; Pedroza, LA; Pedroza, Luis; Poli, CM; Poli, Cecilia; Franco, JL; Franco, Jose; Trujillo, Vargas; Trujillo Vargas, Claudia; Aldave, Becerra; Aldave Becerra, Juan; Wright, N; Wright, Nicola; Issekutz, Thomas; Issekutz, TB; Issekutz, AC; Issekutz, Andrew; Abbott, J; Abbott, Jordan; Caldwell, JW; Caldwell, Jason; Bayer, DK; Bayer, Diana; Chan, AY; Chan, Alice; Aiuti, A; Aiuti, Alessandro; Cancrini, C; Cancrini, Caterina; Holmberg, E; Holmberg, Eva; West, C; West, Christina; Burstedt, M; Burstedt, Magnus; Karaca, E; Karaca, Ender; Yesil, Gözde; Yesil, Gözde; Artac, H; Artac, Hasibe; Bayram, Y; Bayram, Yavuz; Atik, MM; Atik, Mehmed; Eldomery, MK; Eldomery, Mohammad; Ehlayel, MS; Ehlayel, Mohammad; Jolles, S; Jolles, Stephen; Flatø, B; Flato, Berit; Bertuch, AA; Bertuch, Alison; Hanson, IC; Hanson, I.; Zhang, VW; Zhang, Victor; Wong, LJ; Wong, Lee-Jun; Hu, J; Hu, Jianhong; Walkiewicz, M; Walkiewicz, Magdalena; Yang, Y; Yang, Yaping; Eng, CM; Eng, Christine; Boerwinkle, E; Boerwinkle, Eric; Gibbs, RA; Gibbs, Richard; Shearer, WT; Shearer, William; Lyle, R; Lyle, Robert; Orange, JS; Orange, Jordan; Lupski, JR; Lupski, James

doi:10.1016/j.jaci.2016.05.042

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.

Stray-Pedersen A., Stray-Pedersen A., Sorte H. S., Sorte H., Samarakoon P., Samarakoon P., ...More

The Journal of allergy and clinical immunology, vol.139, pp.232-245, 2017 (SCI-Expanded)

Publication Type: Article / Article
Volume: 139
Publication Date: 2017
Doi Number: 10.1016/j.jaci.2016.05.042
Journal Name: The Journal of allergy and clinical immunology
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Page Numbers: pp.232-245
Keywords: Primary immunodeficiency disease, whole-exome sequencing, copy number variants, COMMON VARIABLE IMMUNODEFICIENCY, CHRONIC GRANULOMATOUS-DISEASE, SEVERE INTELLECTUAL DISABILITY, WHOLE-GENOME, IMMUNE DYSREGULATION, GERMLINE MUTATIONS, MISSENSE MUTATIONS, PRACTICE PARAMETER, GENETIC-VARIANTS, SEQUENCE
Istanbul University Affiliated: No