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, Henrik; Hjorth-Hansen, H; Dybedal, Ingunn; Dybedal, I; Nordoy, Ingvild; Nordøy, I; Jorgensen, Silje; Jørgensen, SF; Abrahamsen, Tore; Abrahamsen, TG; Overland, Torstein; Øverland, T; Bechensteen, Anne; Bechensteen, AG; Skogen, Vegard; Skogen, V; Osnes, Liv; Osnes, LTN; Kulseth, Mari; Kulseth, MA; Prescott, Trine; Prescott, TE; Rustad, Cecilie; Rustad, CF; Heimdal, Ketil; Heimdal, KR; Belmont, John; Belmont, JW; Rider, Nicholas; Rider, NL; Chinen, Javier; Chinen, J; Cao, Tram; Cao, TN; Smith, Eric; Smith, EA; Soledad Caldirola, Maria; Caldirola, MS; Bezrodnik, Liliana; Bezrodnik, L; Lugo Reyes, Saul; Lugo, Reyes; Espinosa Rosales, Francisco; Espinosa, Rosales; Guerrero-Cursaru, Nina; Guerrero-Cursaru, ND; Pedroza, Luis; Pedroza, LA; Poli, Cecilia; Poli, CM; Franco, Jose; Franco, JL; Trujillo, Vargas; Trujillo Vargas, Claudia; Aldave, Becerra; Aldave Becerra, Juan; Wright, N; Wright, Nicola; Issekutz, TB; Issekutz, Thomas; 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, Hasibe; Artac, H; Bayram, Yavuz; Bayram, Y; Atik, Mehmed; Atik, MM; Eldomery, Mohammad; Eldomery, MK; Ehlayel, Mohammad; Ehlayel, MS; Jolles, Stephen; Jolles, S; Flato, Berit; Flatø, B; Bertuch, Alison; Bertuch, AA; Hanson, I.; Hanson, IC; Zhang, Victor; Zhang, VW; Wong, Lee-Jun; Wong, LJ; Hu, Jianhong; Hu, J; Walkiewicz, Magdalena; Walkiewicz, M; Yang, Yaping; Yang, Y; Eng, Christine; Eng, CM; Boerwinkle, Eric; Boerwinkle, E; Gibbs, Richard; Gibbs, RA; Shearer, William; Shearer, WT; Lyle, Robert; Lyle, R; Orange, Jordan; Orange, JS; Lupski, James; Lupski, JR

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., ...Daha Fazla

The Journal of allergy and clinical immunology, cilt.139, ss.232-245, 2017 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 139
Basım Tarihi: 2017
Doi Numarası: 10.1016/j.jaci.2016.05.042
Dergi Adı: The Journal of allergy and clinical immunology
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.232-245
Anahtar Kelimeler: 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
İstanbul Üniversitesi Adresli: Hayır