Monocytes as Potential Mediators of Pathogen‐Induced T‐Helper 17 Differentiation in Patients With Primary Sclerosing Cholangitis (PSC) von Kunzmann, Lilly Kristin, Schoknecht, Tanja, Poch, Tobias, Henze, Lara, Stein, Stephanie, Kriz, Marvin, Grewe, Ilka, Preti, Max, Hartl, Johannes, Pannicke, Nadine, Peiseler, Moritz, Sebode, Marcial, Zenouzi, Roman, Horvatits, Thomas, Böttcher, Marius, Petersen, Britt‐Sabina, Weiler‐Normann, Christina, Hess, Leonard U., Ahrenstorf, Annika Elise, Lunemann, Sebastian, Martrus, Gloria, Fischer, Lutz, Li, Jun, Carambia, Antonella, Kluwe, Johannes, Huber, Samuel, Lohse, Ansgar W., Franke, Andre, Herkel, Johannes, Schramm, Christoph, Schwinge, Dorothee

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IL-17A is functionally relevant and a potential therapeutic target in bullous pemphigoid von Chakievska, Lenche, Holtsche, Maike M., Künstner, Axel, Goletz, Stephanie, Petersen, Britt-Sabina, Thaci, Diamant, Ibrahim, Saleh M., Ludwig, Ralf J., Franke, Andre, Sadik, Christian D., Zillikens, Detlef, Hölscher, Christoph, Busch, Hauke, Schmidt, Enno

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Working toward precision medicine: Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges von Daneshjou, Roxana, Wang, Yanran, Bromberg, Yana, Bovo, Samuele, Martelli, Pier L, Babbi, Giulia, Lena, Pietro Di, Casadio, Rita, Edwards, Matthew, Gifford, David, Jones, David T, Sundaram, Laksshman, Bhat, Rajendra Rana, Li, Xiaolin, Pal, Lipika R., Kundu, Kunal, Yin, Yizhou, Moult, John, Jiang, Yuxiang, Pejaver, Vikas, Pagel, Kymberleigh A., Li, Biao, Mooney, Sean D., Radivojac, Predrag, Shah, Sohela, Carraro, Marco, Gasparini, Alessandra, Leonardi, Emanuela, Giollo, Manuel, Ferrari, Carlo, Tosatto, Silvio C E, Bachar, Eran, Azaria, Johnathan R., Ofran, Yanay, Unger, Ron, Niroula, Abhishek, Vihinen, Mauno, Chang, Billy, Wang, Maggie H, Franke, Andre, Petersen, Britt‐Sabina, Pirooznia, Mehdi, Zandi, Peter, McCombie, Richard, Potash, James B., Altman, Russ B., Klein, Teri E., Hoskins, Roger A., Repo, Susanna, Brenner, Steven E., Morgan, Alexander A.

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Identifying Crohn's disease signal from variome analysis von Wang, Yanran, Miller, Maximilian, Astrakhan, Yuri, Petersen, Britt-Sabina, Schreiber, Stefan, Franke, Andre, Bromberg, Yana

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The TP53 Pro72Arg SNP in de novo acute myeloid leukaemia – results of two cohort studies involving 215 patients and 3759 controls von Schulz, Eduard, Lind, Karin, Renner, Wilfried, Petersen, Britt‐Sabina, Quehenberger, Franz, Dill, Claudia, Hofer, Sybille, Lal, Ridhima, Hoefler, Gerald, Schlenke, Peter, Ehninger, Gerhard, Schetelig, Johannes, Middeke, Jan M., Stölzel, Friedrich, Sill, Heinz

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Exome Analysis of Rare and Common Variants within the NOD Signaling Pathway von Andreoletti, Gaia, Shakhnovich, Valentina, Christenson, Kathy, Coelho, Tracy, Haggarty, Rachel, Afzal, Nadeem A, Batra, Akshay, Petersen, Britt-Sabina, Mort, Matthew, Beattie, R. Mark, Ennis, Sarah

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Rare phenotypes in the understanding of autoimmunity von Zeissig, Yvonne, Petersen, Britt‐Sabina, Franke, Andre, Blumberg, Richard S, Zeissig, Sebastian

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Iterative Sequencing and Variant Screening (ISVS) as a novel pathogenic mutations search strategy - application for TMPRSS3 mutations screen von Lechowicz, Urszula, Gambin, Tomasz, Pollak, Agnieszka, Podgorska, Anna, Stawinski, Piotr, Franke, Andre, Petersen, Britt-Sabina, Firczuk, Malgorzata, Oldak, Monika, Skarzynski, Henryk, Ploski, Rafal

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Exome Sequencing Identifies a Novel MAP3K14 Mutation in Recessive Atypical Combined Immunodeficiency von Schlechter, Nikola, Glanzmann, Brigitte, Hoal, Eileen Garner, Schoeman, Mardelle, Petersen, Britt-Sabina, Franke, Andre, Lau, Yu-Lung, Urban, Michael, van Helden, Paul David, Esser, Monika Maria, Möller, Marlo, Kinnear, Craig

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IKZF1 plus Defines a New Minimal Residual Disease-Dependent Very-Poor Prognostic Profile in Pediatric B-Cell Precursor Acute Lymphoblastic Leukemia von Stanulla, Martin, Dagdan, Elif, Zaliova, Marketa, Möricke, Anja, Palmi, Chiara, Cazzaniga, Giovanni, Eckert, Cornelia, Te Kronnie, Geertruy, Bourquin, Jean-Pierre, Bornhauser, Beat, Koehler, Rolf, Bartram, Claus R, Ludwig, Wolf-Dieter, Bleckmann, Kirsten, Groeneveld-Krentz, Stefanie, Schewe, Denis, Junk, Stefanie V, Hinze, Laura, Klein, Norman, Kratz, Christian P, Biondi, Andrea, Borkhardt, Arndt, Kulozik, Andreas, Muckenthaler, Martina U, Basso, Giuseppe, Valsecchi, Maria Grazia, Izraeli, Shai, Petersen, Britt-Sabina, Franke, Andre, Dörge, Petra, Steinemann, Doris, Haas, Oskar A, Panzer-Grümayer, Renate, Cavé, Hélène, Houlston, Richard S, Cario, Gunnar, Schrappe, Martin, Zimmermann, Martin

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CEACAM1 regulates TIM-3-mediated tolerance and exhaustion von Huang, Yu-Hwa, Zhu, Chen, Kondo, Yasuyuki, Anderson, Ana C., Gandhi, Amit, Russell, Andrew, Dougan, Stephanie K., Petersen, Britt-Sabina, Melum, Espen, Pertel, Thomas, Clayton, Kiera L., Raab, Monika, Chen, Qiang, Beauchemin, Nicole, Yazaki, Paul J., Pyzik, Michal, Ostrowski, Mario A., Glickman, Jonathan N., Rudd, Christopher E., Ploegh, Hidde L., Franke, Andre, Petsko, Gregory A., Kuchroo, Vijay K., Blumberg, Richard S.

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Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations von Schubert, Desirée, Bode, Claudia, Kenefeck, Rupert, Hou, Tie Zheng, Wing, James B, Kennedy, Alan, Bulashevska, Alla, Petersen, Britt-Sabina, Schäffer, Alejandro A, Grüning, Björn A, Unger, Susanne, Frede, Natalie, Baumann, Ulrich, Witte, Torsten, Schmidt, Reinhold E, Dueckers, Gregor, Niehues, Tim, Seneviratne, Suranjith, Kanariou, Maria, Speckmann, Carsten, Ehl, Stephan, Rensing-Ehl, Anne, Warnatz, Klaus, Rakhmanov, Mirzokhid, Thimme, Robert, Hasselblatt, Peter, Emmerich, Florian, Cathomen, Toni, Backofen, Rolf, Fisch, Paul, Seidl, Maximilian, May, Annette, Schmitt-Graeff, Annette, Ikemizu, Shinji, Salzer, Ulrich, Franke, Andre, Sakaguchi, Shimon, Walker, Lucy S K, Sansom, David M, Grimbacher, Bodo

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Genetic Factors of the Disease Course After Sepsis: Rare Deleterious Variants Are Predictive von Taudien, Stefan, Lausser, Ludwig, Giamarellos-Bourboulis, Evangelos J., Sponholz, Christoph, Schöneweck, Franziska, Felder, Marius, Schirra, Lyn-Rouven, Schmid, Florian, Gogos, Charalambos, Groth, Susann, Petersen, Britt-Sabina, Franke, Andre, Lieb, Wolfgang, Huse, Klaus, Zipfel, Peter F., Kurzai, Oliver, Moepps, Barbara, Gierschik, Peter, Bauer, Michael, Scherag, André, Kestler, Hans A., Platzer, Matthias

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Early-onset Crohn’s disease and autoimmunity associated with a variant in CTLA-4 von Zeissig, Sebastian, Petersen, Britt-Sabina, Tomczak, Michal, Melum, Espen, Huc-Claustre, Emilie, Dougan, Stephanie K, Laerdahl, Jon K, Stade, Björn, Forster, Michael, Schreiber, Stefan, Weir, Dascha, Leichtner, Alan M, Franke, Andre, Blumberg, Richard S

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XIAP variants in male Crohn's disease von Zeissig, Yvonne, Petersen, Britt-Sabina, Milutinovic, Snezana, Bosse, Esther, Mayr, Gabriele, Peuker, Kenneth, Hartwig, Jelka, Keller, Andreas, Kohl, Martina, Laass, Martin W, Billmann-Born, Susanne, Brandau, Heide, Feller, Alfred C, Röcken, Christoph, Schrappe, Martin, Rosenstiel, Philip, Reed, John C, Schreiber, Stefan, Franke, Andre, Zeissig, Sebastian

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Exome Sequencing Analysis Reveals Variants in Primary Immunodeficiency Genes in Patients With Very Early Onset Inflammatory Bowel Disease von Kelsen, Judith R, Dawany, Noor, Moran, Christopher J, Petersen, Britt-Sabina, Sarmady, Mahdi, Sasson, Ariella, Pauly-Hubbard, Helen, Martinez, Alejandro, Maurer, Kelly, Soong, Joanne, Rappaport, Eric, Franke, Andre, Keller, Andreas, Winter, Harland S, Mamula, Petar, Piccoli, David, Artis, David, Sonnenberg, Gregory F, Daly, Mark, Sullivan, Kathleen E, Baldassano, Robert N, Devoto, Marcella

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Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea von Janecke, Andreas R, Heinz-Erian, Peter, Yin, Jianyi, Petersen, Britt-Sabina, Franke, Andre, Lechner, Silvia, Fuchs, Irene, Melancon, Serge, Uhlig, Holm H, Travis, Simon, Marinier, Evelyne, Perisic, Vojislav, Ristic, Nina, Gerner, Patrick, Booth, Ian W, Wedenoja, Satu, Baumgartner, Nadja, Vodopiutz, Julia, Frechette-Duval, Marie-Christine, De Lafollie, Jan, Persad, Rabindranath, Warner, Neil, Tse, C Ming, Sud, Karan, Zachos, Nicholas C, Sarker, Rafiquel, Zhu, Xinjun, Muise, Aleixo M, Zimmer, Klaus-Peter, Witt, Heiko, Zoller, Heinz, Donowitz, Mark, Müller, Thomas

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Improving mapping and SNP-calling performance in multiplexed targeted next-generation sequencing von Elsharawy, Abdou, Forster, Michael, Schracke, Nadine, Keller, Andreas, Thomsen, Ingo, Petersen, Britt-Sabina, Stade, Björn, Stähler, Peer, Schreiber, Stefan, Rosenstiel, Philip, Franke, Andre

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Congenital secretory diarrhoea caused by activating germline mutations in GUCY2C von Müller, Thomas, Rasool, Insha, Heinz-Erian, Peter, Mildenberger, Eva, Hülstrunk, Christian, Müller, Andreas, Michaud, Laurent, Koot, Bart G P, Ballauff, Antje, Vodopiutz, Julia, Rosipal, Stefan, Petersen, Britt-Sabina, Franke, Andre, Fuchs, Irene, Witt, Heiko, Zoller, Heinz, Janecke, Andreas R, Visweswariah, Sandhya S

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Whole-exome sequencing identifies rare genetic variations in German families with pulmonary sarcoidosis von Kishore, Amit, Petersen, Britt-Sabina, Nutsua, Marcel, Müller-Quernheim, Joachim, Franke, Andre, Fischer, Annegret, Schreiber, Stefan, Petrek, Martin

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