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Human Autosomal Recessive DNA Polymerase Delta 3 Deficiency Presenting as Omenn Syndrome Riestra, Maria Rodrigo; Pillay, Bethany A.; Willemsen, Mathijs; Kienapfel, Verena; Ehlers, Lisa; Delafontaine, Selket; Pinton, Antoine; Wouters, Marjon; Hombrouck, Anneleen; Sauer, Kate; Bossuyt, Xavier; Voet, Arnout; Soenen, Stefaan J.; Conde, Cecilia Dominguez; Bucciol, Giorgia; Boztug, Kaan; Humblet-Baron, Stephanie; Touzart, Aurore; Rieux-Laucat, Frederic; Notarangelo, Luigi D.; Moens, Leen; Meyts, Isabelle Share Save
Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency Block, Jana; Rashkova, Christina; Castanon, Irinka; Zoghi, Samaneh; Platon, Jessica; Ardy, Rico C.; Fujiwara, Mitsuhiro; Chaves, Beatriz; Schoppmeyer, Rouven; van der Made, Caspar I.; Heredia, Raul Jimenez; Harms, Frederike L.; Alavi, Samin; Alsina, Laia; Moreno, Paula Sanchez; Polo, Rainiero Avila; Cabrera-Perez, Rocio; Bal, Sevgi Kostel; Pfajfer, Laurene; Ransmayr, Bernhard; Mautner, Anna-Katharina; Kondo, Ryohei; Tinnacher, Anna; Caldera, Michael; Schuster, Michael; Conde, Cecilia Dominguez; Platzer, Rene; Salzer, Elisabeth; Boyer, Thomas; Brunner, Han G.; Nooitgedagt-Frons, Judith E.; Iglesias, Estibaliz; Deya-Martinez, Angela; Camacho-Lovillo, Marisol; Menche, Joerg; Bock, Christoph; Huppa, Johannes B.; Pickl, Winfried F.; Distel, Martin; Yoder, Jeffrey A.; Traver, David; Engelhardt, Karin R.; Linden, Tobias; Kager, Leo; Hannich, J. Thomas; Hoischen, Alexander; Hambleton, Sophie; Illsinger, Sabine; Da Costa, Lydie; Kutsche, Kerstin; Chavoshzadeh, Zahra; van Buul, Jaap D.; Anton, Jordi; Calzada-Hernandez, Joan; Neth, Olaf; Viaud, Julien; Nishikimi, Akihiko; Dupre, Loic; Boztug, Kaan Share Save
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MultiMAP: dimensionality reduction and integration of multimodal data Jain, Mika Sarkin; Polanski, Krzysztof; Conde, Cecilia Dominguez; Chen, Xi; Park, Jongeun; Mamanova, Lira; Knights, Andrew; Botting, Rachel A.; Stephenson, Emily; Haniffa, Muzlifah; Lamacraft, Austen; Efremova, Mirjana; Teichmann, Sarah A. Share Save
THE LOCAL AND SYSTEMIC RESPONSE TO SARS-COV-2 INFECTION IN CHILDREN AND ADULTS Worlock, K. B.; Yoshida, M.; Lindeboom, R. G. H.; Huang, N.; Butler, C. R.; Kumasaka, N.; Conde, C. Dominguez; Mamanova, L.; Bolt, L.; Richardson, L.; Polanski, K.; Madissoon, E.; Barnes, J. L.; Allen-Hyttinen, J.; Kilich, E.; Jones, B. C.; de Wilton, A.; Wilbrey-Clark, A.; Sungnak, W.; Pett, J. P.; Prigmore, E.; Yung, H.; Mehta, P.; Saleh, A.; Saigal, A.; Chu, V.; Cohen, J. M.; Cane, C.; Iordanidou, A.; Shibuya, S.; Reuschl, A-K; Argento, A. C.; Wunderink, R. G.; Smith, S. B.; Poor, T. A.; Gao, C. A.; Dematte, J. E.; Reynolds, G.; Haniffa, M.; Bowyer, G. S.; Coates, M.; Clatworthy, M. R.; Calero-Nieto, F. J.; Gottgens, B.; O'Callaghan, C.; Sebire, N. J.; Jolly, C.; de Coppi, P.; Smith, C. M.; Misharin, A. V.; Janes, S. M.; Teichmann, S. A.; Meyer, K. B.; Nikolic, M. Z. Share Save
SARS-CoV-2 infection of the oral cavity and saliva Huang, Ni; Perez, Paola; Kato, Takafumi; Mikami, Yu; Okuda, Kenichi; Gilmore, Rodney C.; Conde, Cecilia Dominguez; Gasmi, Billel; Stein, Sydney; Beach, Margaret; Pelayo, Eileen; Maldonado, Jose O.; Lafont, Bernard A.; Jang, Shyh-Ing; Nasir, Nadia; Padilla, Ricardo J.; Murrah, Valerie A.; Maile, Robert; Lovell, William; Wallet, Shannon M.; Bowman, Natalie M.; Meinig, Suzanne L.; Wolfgang, Matthew C.; Choudhury, Saibyasachi N.; Novotny, Mark; Aevermann, Brian D.; Scheuermann, Richard H.; Cannon, Gabrielle; Anderson, Carlton W.; Lee, Rhianna E.; Marchesan, Julie T.; Bush, Mandy; Freire, Marcelo; Kimple, Adam J.; Herr, Daniel L.; Rabin, Joseph; Grazioli, Alison; Das, Sanchita; French, Benjamin N.; Pranzatelli, Thomas; Chiorini, John A.; Kleiner, David E.; Pittaluga, Stefania; Hewitt, Stephen M.; Burbelo, Peter D.; Chertow, Daniel; Frank, Karen; Lee, Janice; Boucher, Richard C.; Teichmann, Sarah A.; Warner, Blake M.; Byrd, Kevin M. Share Save
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Polymerase δ deficiency causes syndromic immunodeficiency with replicative stress Conde, Cecilia Dominguez; Petronczki, Oezlem Yuece; Baris, Safa; Willmann, Katharina L.; Girardi, Enrico; Salzer, Elisabeth; Weitzer, Stefan; Ardy, Rico Chandra; Krolo, Ana; Ijspeert, Hanna; Kiykim, Ayca; Karakoc-Aydiner, Elif; Forster-Waldl, Elisabeth; Kager, Leo; Pickl, Winfried F.; Superti-Furga, Giulio; Martinez, Javier; Loizou, Joanna, I; Ozen, Ahmet; van der Burg, Mirjam; Boztug, Kaan Share Save
Selective loss of function variants in IL6ST cause Hyper-IgE syndrome with distinct impairments of T-cell phenotype and function Shahin, Tala; Aschenbrenner, Dominik; Cagdas, Deniz; Bal, Sevgi Koestel; Conde, Cecilia Dominguez; Garncarz, Wojciech; Medgyesi, David; Schwerd, Tobias; Karaatmaca, Betul; Cetinkaya, Pinar Gur; Esenboga, Saliha; Twigg, Stephen R. F.; Cant, Andrew; Wilkie, Andrew O. M.; Tezcan, Ilhan; Uhlig, Holm H.; Boztug, Kaan Share Save
CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis Ozen, Ahmet; Comrie, William A.; Ardy, Rico C.; Conde, Cecilia Dominguez; Dalgic, Buket; Beser, Omer F.; Morawski, Aaron R.; Karakoc-Aydiner, Elif; Tutar, Engin; Baris, Safa; Ozcay, Figen; Serwas, Nina K.; Zhang, Yu; Matthews, Helen F.; Pittaluga, Stefania; Folio, Les R.; Aksu, Aysel Unlusoy; McElwee, Joshua J.; Krolo, Ana; Kiykim, Ayca; Baris, Zeren; Gulsan, Meltem; Ogulur, Ismail; Snapper, Scott B.; Houwen, Roderick H. J.; Leavis, Helen L.; Ertem, Deniz; Kain, Renate; Sari, Sinan; Erkan, Tulay; Su, Helen C.; Boztug, Kaan; Lenardo, Michael J. Share Save
B-cell signaling in persistent polyclonal B lymphocytosis (PPBL) Voelxen, Nadine; Wehr, Claudia; Gutenberger, Sylvia; Keller, Baerbel; Erlacher, Miriam; Dominguez-Conde, Cecilia; Bertele, Daniela; Emmerich, Florian; Pantic, Milena; Jennings, Stefanie; Rakhmanov, Mirzokhid; Foerster, Christian; Martens, Uwe M.; Platzbecker, Uwe; Peter, Hans-Hartmut; Fisch, Paul; Boztug, Kaan; Eibel, Hermann; Salzer, Ulrich; Warnatz, Klaus Share Save
Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections Dobbs, K.; Conde, C. Dominguez; Zhang, S. -Y.; Parolini, S.; Audry, M.; Chou, J.; Haapaniemi, E.; Keles, S.; Bilic, I.; Okada, S.; Massaad, M. J.; Rounioja, S.; Alwahadneh, A. M.; Serwas, N. K.; Capuder, K.; Ciftci, E.; Felgentreff, K.; Ohsumi, T. K.; Pedergnana, V.; Boisson, B.; Haskologlu, S.; Ensari, A.; Schuster, M.; Moretta, A.; Itan, Y.; Patrizi, O.; Rozenberg, F.; Lebon, P.; Saarela, J.; Knip, M.; Petrovski, S.; Goldstein, D. B.; Parrott, R. E.; Savas, B.; Schambach, A.; Tabellini, G.; Bock, C.; Chatila, T. A.; Comeau, A. M.; Geha, R. S.; Abel, L.; Buckley, R. H.; Ikinciogullari, A.; Al-Herz, W.; Helminen, M.; Dogu, F.; Casanova, J. -L.; Boztug, K.; Notarangelo, L. D. Share Save
Biallelic loss-of-function mutation in NIK causes a primary immunodeficiency with multifaceted aberrant lymphoid immunity Willmann, Katharina L.; Klaver, Stefanie; Dogu, Figen; Santos-Valente, Elisangela; Garncarz, Wojciech; Bilic, Ivan; Mace, Emily; Salzer, Elisabeth; Conde, Cecilia Dominguez; Sic, Heiko; Majek, Peter; Banerjee, Pinaki P.; Vladimer, Gregory I.; Haskologlu, Sule; Bolkent, Musa Gokalp; Kupesiz, Alphan; Condino-Neto, Antonio; Colinge, Jacques; Superti-Furga, Giulio; Pickl, Winfried F.; van Zelm, Menno C.; Eibel, Hermann; Orange, Jordan S.; Ikinciogullari, Aydan; Boztug, Kaan Share Save
JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia Boztug, Kaan; Jaervinen, Paeivi M.; Salzer, Elisabeth; Racek, Tomas; Moench, Sebastian; Garncarz, Wojciech; Gertz, E. Michael; Schaeffer, Alejandro A.; Antonopoulos, Aristotelis; Haslam, Stuart M.; Schieck, Lena; Puchalka, Jacek; Diestelhorst, Jana; Appaswamy, Giridharan; Lescoeur, Brigitte; Giambruno, Roberto; Bigenzahn, Johannes W.; Elling, Ulrich; Pfeifer, Dietmar; Conde, Cecilia Dominguez; Albert, Michael H.; Welte, Karl; Brandes, Gudrun; Sherkat, Roya; ten Bosch, Jutte van der Werff; Rezaei, Nima; Etzioni, Amos; Bellanne-Chantelot, Christine; Superti-Furga, Giulio; Penninger, Josef M.; Bennett, Keiryn L.; von Blume, Julia; Dell, Anne; Donadieu, Jean; Klein, Christoph Share Save
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