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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 4
2021
Ouahed, Jodie; Kelsen, Judith R.; Spessott, Waldo A.; Kooshesh, Kameron; Sanmillan, Maria L.; Dawany, Noor; Sullivan, Kathleen E.; Hamilton, Kathryn E.; Slowik, Voytek; Nejentsev, Sergey; Neves, Joao Farela; Flores, Helena; Chung, Wendy K.; Wilson, Ashley; Anyane-Yeboa, Kwame; Wou, Karen; Jain, Preti; Field, Michael; Tollefson, Sophia; Dent, Maiah H.; Li, Dalin; Naito, Takeo; McGovern, Dermot P. B.; Kwong, Andrew C.; Taliaferro, Faith; Ordovas-Montanes, Jose; Horwitz, Bruce H.; Kotlarz, Daniel; Klein, Christoph; Evans, Jonathan; Dorsey, Jill; Warner, Neil; Elkadri, Abdul; Muise, Aleixo M.; Goldsmith, Jeffrey; Thompson, Benjamin; Engelhardt, Karin R.; Cant, Andrew J.; Hambleton, Sophie; Barclay, Andrew; Toth-Petroczy, Agnes; Vuzman, Dana; Carmichael, Nikkola; Bodea, Corneliu; Cassa, Christopher A.; Devoto, Marcella; Maas, Richard L.; Behrens, Edward M.; Giraudo, Claudio G. und Snapper, Scott B.
(2021):
Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation.
In: Journal of Crohns & Colitis, Bd. 15, Nr. 11: S. 1908-1919
Wang, Lin; Aschenbrenner, Dominik; Zeng, Zhiyang; Cao, Xiya; Mayr, Daniel; Mehta, Meera; Capitani, Melania; Warner, Neil; Pan, Jie; Wang, Liren; Li, Qi; Zuo, Tao; Cohen-Kedar, Sarit; Lu, Jiawei; Ardy, Rico Chandra; Mulder, Daniel J.; Dissanayake, Dilan; Peng, Kaiyue; Huang, Zhiheng; Li, Xiaoqin; Wang, Yuesheng; Wang, Xiaobing; Li, Shuchao; Bullers, Samuel; Gammage, Anis N.; Warnatz, Klaus; Schiefer, Ana-Iris; Krivan, Gergely; Goda, Vera; Kahr, Walter H. A.; Lemaire, Mathieu; Lu, Chien-Yi; Siddiqui, Iram; Surette, Michael G.; Kotlarz, Daniel; Engelhardt, Karin R.; Griffin, Helen R.; Rottapel, Robert; Decaluwe, Helene; Laxer, Ronald M.; Proietti, Michele; Hambleton, Sophie; Elcombe, Suzanne; Guo, Cong-Hui; Grimbacher, Bodo; Dotan, Iris; Ng, Siew C.; Freeman, Spencer A.; Snapper, Scott B.; Klein, Christoph; Boztug, Kaan; Huang, Ying; Li, Dali; Uhlig, Holm H. und Muise, Aleixo M.
(2021):
Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice.
In: Nature Genetics, Bd. 53, Nr. 4: S. 500-510
2019
Duncan, Christopher J. A.; Thompson, Benjamin J.; Chen, Rui; Rice, Gillian; Gothe, Florian; Young, Dan F.; Lovell, Simon C.; Shuttleworth, Victoria G.; Brocklebank, Vicky; Corner, Bronte; Skelton, Andrew J.; Bondet, Vincent; Coxhead, Jonathan; Duffy, Darragh; Fourrage, Cecile; Livingston, John H.; Pavaine, Julija; Cheesman, Edmund; Bitetti, Stephania; Grainger, Angela; Acres, Meghan; Innes, Barbara A.; Mikulasova, Aneta; Sun, Ruyue; Hussain, Rafiqul; Wright, Ronnie; Wynn, Robert; Zarhrate, Mohammed; Zeef, Leo A. H.; Wood, Katrina; Hughes, Stephen M.; Harris, Claire L.; Engelhardt, Karin R.; Crow, Yanick J.; Randall, Richard E.; Kavanagh, David; Hambleton, Sophie und Briggs, Tracy A.
(2019):
Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2.
In: Science Immunology, Bd. 4, Nr. 42, eaav7501
Zhang, Zinan; Gothe, Florian; Pennamen, Perrine; James, John R.; McDonald, David; Mata, Carlos P.; Modis, Yorgo; Alazami, Anas M.; Acres, Meghan; Haller, Wolfram; Bowen, Claire; Doffinger, Rainer; Sinclair, Jan; Brothers, Shannon; Zhang, Yu; Matthews, Helen F.; Naudion, Sophie; Pelluard, Fanny; Alajlan, Huda; Yamazaki, Yasuhiro; Notarangelo, Luigi D.; Thaventhiran, James E.; Engelhardt, Karin R.; Al-Mousa, Hamoud; Hambleton, Sophie; Rooryck, Caroline; Smith, Kenneth G. C. und Lenardo, Michael J.
(2019):
Human interleukin-2 receptor beta mutations associated with defects in immunity and peripheral tolerance.
In: Journal of Experimental Medicine, Bd. 216, Nr. 6: S. 1311-1327