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Anzahl der Publikationen: 5
Zeitschriftenartikel
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
Serra, Eva Goncalves; Schwerd, Tobias; Moutsianas, Loukas; Cavounidis, Athena; Fachal, Laura; Pandey, Sumeet; Kammermeier, Jochen; Croft, Nicholas M.; Posovszky, Carsten; Rodrigues, Astor; Russell, Richard K.; Barakat, Farah; Auth, Marcus K. H.; Heuschkel, Robert; Zilbauer, Matthias; Fyderek, Krzysztof; Braegger, Christian; Travis, Simon P.; Satsangi, Jack; Parkes, Miles; Thapar, Nikhil; Ferry, Helen; Matte, Julie C.; Gilmour, Kimberly C.; Wedrychowicz, Andrzej; Sullivan, Peter; Moore, Carmel; Sambrook, Jennifer; Ouwehand, Willem; Roberts, David; Danesh, John; Baeumler, Toni A.; Fulga, Tudor A.; Karaminejadranjbar, Mohammad; Ahmed, Ahmed; Wilson, Rachel; Barrett, Jeffrey C.; Elkadri, Abdul; Griffiths, Anne M.; Snapper, Scott B.; Shah, Neil; Muise, Aleixo M.; Wilson, David C.; Uhlig, Holm H.; Anderson, Carl A.; Zurek, Marlen; Strisciuglio, Caterina; Elawad, Mamoun; Lo, Bernice; Arancibia-Carcamo, Carolina; Bailey, Adam; Barnes, Ellie; Bird-Lieberman, Elizabeth Louise; Brain, Oliver; Braden, Barbara; Collier, Jane; East, James; Howarth, Lucy; Keshav, Satish; Klenerman, Paul; Leedham, Simon; Palmer, Rebecca; Powrie, Fiona; Simmons, Alison; Walker, Matthew; Tolkien, Zoe; Kaptoge, Stephen; Allen, David; Mehenny, Susan; Mant, Jonathan; Di Angelantonio, Emanuele; Thompson, Simon G.; Yilmaz, Bahtiyar; Juillerat, Pascal; Geuking, Markus; Wiest, Reiner; Macpherson, Andrew J.; Bravo, Francisco Damian; Brugger, Lukas; Carstens, Ove; Bigler, Ulrike Graf; Heimgartner, Benjamin; Rusticeanu, Monica; Schmid-Uebelhart, Sybille; Strebel, Bruno; Tatu, Aurora; Tutuian, Radu; Wiest, Reiner; Oyas, Ove; Ramon, Charlotte; Stelling, Jorg; Franc, Yannick; Fournier, Nicolas; Pittet, Valerie E. H.; Burnand, Bernard; Egger, Mara; Franc, Yannick; Golay, Delphine; Marot, Astrid; Musso, Leilla; Pittet, Valerie; Rossel, Jean-Benoit; Seematter, Vivianne; Sommer, Joachim; Vulliamy, Rachel; Michetti, Pierre; Maillard, Michel H.; Keller, Celine; Maillard, Michel H.; Nydegger, Andreas; Schoepfe, Alain; Archanioti, Eva; Ezri, Jessica; Fraga, Montserrat; Schoepfer, Alain; Müller, Christoph; Rogler, Gerhard; Biedermann, Luc; Blattmann, Mirjam; Burk, Sabine; Dora, Barbara; Fried, Michael; Misselwitz, Benjamin; Mullhaupt, Beat; Obialo, Nicole; Pohl, Daniel; Raschle, Nadia; Rogler, Gerhard; Scharl, Michael; Vavricka, Stephan; Kanel, Roland von; Zeitz, Jonas; Abdelrahman, Karim; Ademi, Gentiana; Borovicka, Jan; Brand, Stephan; Frei, Remus; Haarer, Johannes; Grieger, Christina Knellwolf; Krieger-Grubel, Claudia; Kunzler, Patrizia; Meyenberger, Christa; Meyer, Pamela; Rohrich, Nina; Sawatzki, Mikael; Schelling, Martin; Semadeni, Gian-Marco; Sulz, Michael; Zimmermann, Dorothee; Aepli, Patrick; Criblez, Dominique H.; Hess, Cyrill; Richterich, Jean-Pierre; Spalinger, Johannes; Staudenmann, Dominic; Stulz, Andreas; Wohrle, Stefanie; Thomas, Amman; Anderegg, Claudia; Kohler, Henrik; Kusche, Rachel; Antonino, Anca-Teodora; Arrigoni, Eviano; Bengoa, Jose M.; Cunningham, Sophie; de Saussure, Philippe; Girard, Laurent; Bakker de Jong, Diana; Basturk, Polat; Brunner, Simon; Degen, Lukas; Hruz, Petr; Khalid-de Bakker, Carolina; Niess, Jan; Balsiger, Bruno; Haldemann, Janine; Saner, Gaby; Seibold, Frank; Bauerfeind, Peter; Becocci, Andrea; Belli, Dominique; Binek, Janek; Hengstler, Peter; Boehm, Stephan; Boldanov, Tujana; Buhr, Patrick; Koller, Rebekka; Rueger, Vanessa; Senning, Arne; Burri, Emanuel; Buyse, Sophie; Cao, Dahlia-Thao; D'Angelo, Fabrizia; Delarive, Joakim; Doerig, Christopher; Hessler, Roxane; Preissler, Claudia; Rentsch, Ronald; Risti, Branislav; Ritz, Marc Alain; Steuerwald, Michael; Vogtlin, Jurg; Sagmeister, Markus; Sauter, Bernhard; Schibli, Susanne; Sokollik, Christiane; Spalinger, Johannes; Schlauri, Hugo; Schnegg, Jean-Francois; Seirafi, Mariam; Spangenberger, Holger; Stadler, Philippe; Staub, Peter; Stenz, Volker; Tempia-Caliera, Michela; Thorens, Joel; Truninger, Kaspar; Urfer, Patrick; Viani, Francesco; Vouillamoz, Dominique; Zander, Silvan; Wyli, Tina; Jostins, L.; Kennedy, N. A.; Ahmad, T.; Lamb, C. A.; Edwards, C.; Hart, A.; Hawkey, C.; Mansfield, J. C.; Mowat, C.; Newman, W. G.; Simmons, A.; Tremelling, M.; Lee, J. C.; Prescott, N. J.; Mathew, C. G.; Lees, C. W.; McGovern, D. P. B.; Targan, S. R.; Botwin, G.; Mengesha, E.; Fleshner, P.; Landers, C.; Li, D.; Rioux, J. D.; Bitton, A.; Cote-Daigneault, J.; Daly, M. J.; Xavier, R.; Morris, K.; Boucher, G.; Cho, J. H.; Abraham, C.; Merad, M.; Sands, B.; Peter, I.; Hao, K.; Itan, Y.; Duerr, R. H.; Konnikova, L.; Schwartz, M. B.; Proksell, S.; Johnston, E.; Miladinova, V.; Chen, W.; Brant, S. R.; Datta, L.; Silverberg, M. S.; Schumm, L. P.; Birch, S.; Giri, M.; Gettler, K.; Sharma, Y.; Stevens, C.; Lazarev, M. und Haritunians, T.
(2020):
Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease.
In: Nature Communications, Bd. 11, Nr. 1, 995
[PDF, 1MB]
Crowley, Eileen; Warner, Neil; Pan, Jie; Khalouei, Sam; Elkadri, Abdul; Fiedler, Karoline; Foong, Justin; Turinsky, Andrei L.; Bronte-Tinkew, Dana; Zhang, Shiqi; Hu, Jamie; Tian, David; Li, Dalin; Horowitz, Julie; Siddiqui, Iram; Upton, Julia; Roifman, Chaim M.; Church, Peter C.; Wall, Donna A.; Ramani, Arun K.; Kotlarz, Daniel; Klein, Christoph; Uhlig, Holm; Snapper, Scott B.; Gonzaga-Jauregui, Claudia; Paterson, Andrew D.; McGovern, Dermot P. B.; Brudno, Michael; Walters, Thomas D.; Griffiths, Anne M. und Muise, Aleixo M.
(2020):
Prevalence and Clinical Features of Inflammatory Bowel Diseases Associated With Monogenic Variants, Identified by Whole-Exome Sequencing in 1000 Children at a Single Center.
In: Gastroenterology, Bd. 158, Nr. 8: S. 2208-2220
Schwerd, Tobias; Pandey, Sumeet; Yang, Huei-Ting; Bagola, Katrin; Jameson, Elisabeth; Jung, Jonathan; Lachmann, Robin H.; Shah, Neil; Patel, Smita Y.; Booth, Claire; Runz, Heiko; Dueker, Gesche; Bettels, Ruth; Rohrbach, Marianne; Kugathasan, Subra; Chapel, Helen; Keshav, Satish; Elkadri, Abdul; Platt, Nick; Muise, Alexio M.; Koletzko, Sibylle; Xavier, Ramnik J.; Marquardt, Thorsten; Powrie, Fiona; Wraith, James E.; Gyrd-Hansen, Mads; Platt, Frances M. und Uhlig, Holm H.
(2017):
Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease.
In: Gut, Bd. 66, Nr. 6: S. 1060-1073
[PDF, 6MB]
Li, Qi; Lee, Cheng Hiang; Peters, Lauren A.; Mastropaolo, Lucas A.; Thoeni, Cornelia; Elkadri, Abdul; Schwerd, Tobias; Zhu, Jun; Zhang, Bin; Zhao, Yongzhong; Hao, Ke; Dinarzo, Antonio; Hoffman, Gabriel; Kidd, Brian A.; Murchie, Ryan; Al Adham, Ziad; Guo, Conghui; Kotlarz, Daniel; Cutz, Ernest; Walters, Thomas D.; Shouval, Dror S.; Curran, Mark; Dobrin, Radu; Brodmerkel, Carrie; Snapper, Scott B.; Klein, Christoph; Brumell, John H.; Hu, Mingjing; Nanan, Ralph; Snanter-Nanan, Brigitte; Wong, Melanie; Le Deist, Francoise; Haddad, Elie; Roifman, Chaim M.; Deslandres, Colette; Griffiths, Anne M.; Gaskin, Kevin J.; Uhlig, Holm H.; Schadt, Eric E. und Muise, Aleixo M.
(2016):
Variants in TRIM22 That Affect NOD2 Signaling Are Associated With Very-Early-Onset Inflammatory Bowel Disease.
In: Gastroenterology, Bd. 150, Nr. 5: S. 1196-1207