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Lancet Oncology, The, ISSN 1470-2045, 2013, Volume 14, Issue 12, pp. 1200 - 1207
Journal Article
by Thompson, Eric M, MD and Hielscher, Thomas, MSc and Bouffet, Eric, Prof and Remke, Marc, MD and Luu, Betty, BSc and Gururangan, Sridharan, Prof and McLendon, Roger E, Prof and Bigner, Darell D, Prof and Lipp, Eric S, MD and Perreault, Sebastien, MD and Cho, Yoon-Jae, MD and Grant, Gerald, MD and Kim, Seung-Ki, Prof and Lee, Ji Yeoun, MD and Rao, Amulya A Nageswara, MD and Giannini, Caterina, Prof and Li, Kay Ka Wai, MD and Ng, Ho-Keung, Prof and Yao, Yu, MD and Kumabe, Toshihiro, MD and Tominaga, Teiji, Prof and Grajkowska, Wieslawa A, Prof and Perek-Polnik, Marta, Prof and Low, David C Y, MBBCh and Seow, Wan Tew, MBBS and Chang, Kenneth T E, MBBCh and Mora, Jaume, Prof and Pollack, Ian F, Prof and Hamilton, Ronald L, MD and Leary, Sarah, MD and Moore, Andrew S, PhD and Ingram, Wendy J, PhD and Hallahan, Andrew R, MBBS and Jouvet, Anne, MD and Fèvre-Montange, Michelle, PhD and Vasiljevic, Alexandre, MD and Faure-Conter, Cecile, MD and Shofuda, Tomoko, PhD and Kagawa, Naoki, MD and Hashimoto, Naoya, MD and Jabado, Nada, MD and Weil, Alexander G, MD and Gayden, Tenzin, PhD and Wataya, Takafumi, MD and Shalaby, Tarek, MD and Grotzer, Michael, Prof and Zitterbart, Karel, PhD and Sterba, Jaroslav, Prof and Kren, Leos, MD and Hortobágyi, Tibor, Prof and Klekner, Almos, PhD and László, Bognár, Prof and Pócza, Tímea, MSc and Hauser, Peter, MD and Schüller, Ulrich, MD and Jung, Shin, Prof and Jang, Woo-Youl, MD and French, Pim J, Prof and Kros, Johan M, Prof and van Veelen, Marie-Lise C, MD and Massimi, Luca, MD and Leonard, Jeffrey R, Prof and Rubin, Joshua B, MD and Vibhakar, Rajeev, MD and Chambless, Lola B, MD and Cooper, Michael K, MD and Thompson, Reid C, Prof and Faria, Claudia C, MD and Carvalho, Alice, MD and Nunes, Sofia, MD and Pimentel, José, MD and Fan, Xing, MD and Muraszko, Karin M, Prof and López-Aguilar, Enrique, MD and Lyden, David, Prof and Garzia, Livia, PhD and Shih, David J H, PhD and Kijima, Noriyuki, MD and Schneider, Christian, MD and Adamski, Jennifer, PhD and Northcott, Paul A, PhD and Kool, Marcel, PhD and Jones, David T W, PhD and Chan, Jennifer A, MD and Nikolic, Ana, MD and Garre, Maria Luisa, MD and Van Meir, Erwin G, Prof and Osuka, Satoru, MD and Olson, Jeffrey J, Prof and Jahangiri, Arman, BSc and Castro, Brandyn A, BSc and Gupta, Nalin, MD and Weiss, William A, Prof and Moxon-Emre, Iska, MSc and Mabbott, Donald J, PhD and Lassaletta, Alvaro, MD and Hawkins, Cynthia E, Prof and Tabori, Uri, MD and Drake, James, Prof and Kulkarni, Abhaya, Prof and ...
The Lancet Oncology, ISSN 1470-2045, 2016, Volume 17, Issue 4, pp. 484 - 495
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2013, Volume 131, Issue 6, pp. 1594 - 1603.e9
Background Primary immunodeficiencies are a rare group of inborn diseases characterized by a broad clinical and genetic heterogeneity. Substantial advances in... 
Allergy and Immunology | thymus | T-cell immunodeficiency | mucosal-associated invariant T cell | severe combined immune deficiency | EBV-associated B-cell lymphoproliferation | invariant natural killer T cell | Primary immunodeficiency | HOMEOSTASIS | WISKOTT-ALDRICH-SYNDROME | THYMIC EGRESS | SYNDROME PROTEIN | IMMUNOLOGY | MATURATION | T-LYMPHOCYTE | ALLERGY | KINASE ITK | INKT CELL | GENERATION | MUTATIONS | Immunologic Deficiency Syndromes - pathology | Humans | Infant | Male | Exome | Base Sequence | B-Lymphocytes - virology | Female | Immunologic Deficiency Syndromes - immunology | Child | Gene Order | Microfilament Proteins - genetics | B-Lymphocytes - metabolism | Siblings | Amino Acid Sequence | Microfilament Proteins - chemistry | Gene Expression | Microfilament Proteins - deficiency | Protein Structure, Secondary | Lymphoproliferative Disorders - virology | Herpesvirus 4, Human - immunology | Models, Molecular | Lymphoproliferative Disorders - genetics | Lymphoproliferative Disorders - pathology | Sequence Alignment | Pedigree | Immunologic Deficiency Syndromes - genetics | Consanguinity | Mutation | T cells | Genomics | Risk factors | Immunodeficiency | Antigens | Genealogy | Genes | Families & family life | Kinases | Patients | Streptococcus infections | Proteins | Chemotherapy | Parents & parenting | Lymphocytes | Tetanus | Genetic testing | Potassium | Age | Deoxyribonucleic acid--DNA
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 138, Issue 6, pp. 1681 - 1689.e8
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2015, Volume 136, Issue 6, pp. 1619 - 1626.e5
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 135, Issue 4, pp. 998 - 1007.e6
Background Immunoglobulin class-switch recombination defects (CSR-D) are rare primary immunodeficiencies characterized by impaired production of switched... 
Allergy and Immunology | cohesin | class-switch recombination defect | CSR synapse | Chromatin remodeling | STRAND BREAK REPAIR | HUMAN-CELLS | TRANSCRIPTION | IMMUNOLOGY | ACTIVATION-INDUCED DEAMINASE | YY1 | ALLERGY | DNA | GENE-EXPRESSION | AID | HYPER-IGM | Cell Line | ATPases Associated with Diverse Cellular Activities | Chromosomal Proteins, Non-Histone - metabolism | Humans | Cell Cycle Proteins - metabolism | Gene Expression Regulation | Cell Survival - genetics | Chromatin Assembly and Disassembly | Immunoglobulin Isotypes - genetics | Protein Transport | Genetic Variation | DNA Helicases - metabolism | Carrier Proteins - metabolism | Models, Biological | DNA Repair | Gene Rearrangement | Immunoglobulin Switch Region | Immunologic Deficiency Syndromes - genetics | Immunologic Deficiency Syndromes - metabolism | Protein Binding | Immunologic Deficiency Syndromes - immunology | DNA Helicases - genetics | Immunoglobulin Class Switching | Immunoglobulins | Chromatin | Genomics | Immunodeficiency | Proteins | DNA methylation | Chronic obstructive pulmonary disease | Infections | Mutation | Patients | Age | Deoxyribonucleic acid--DNA | Immune system | Defects | Immune Deficiencies, Infection, and Systemic Immune Disorders | TCR, T-cell receptor | CSR, Class-switch recombination | MMR, Mismatch repair | AID, Activation-induced cytidine deaminase | ChIP, Chromatin immunoprecipitation | CSR-Ds, CSR defects | NHEJ, Non-homologous end joining | GLT, Germ-line transcript | DAPI, 4′,6-Diamidino-2-phenylindole | wt, Wild type
Journal Article
Journal Article
by Torchia, Jonathon, MSc and Picard, Daniel, MSc and Lafay-Cousin, Lucie, MD and Hawkins, Cynthia E, PhD and Kim, Seung-Ki, MD and Letourneau, Louis, BSc and Ra, Young-Shin, Prof and Ho, King Ching, MSc and Chan, Tiffany Sin Yu, PhD and Sin-Chan, Patrick, MSc and Dunham, Christopher P, MD and Yip, Stephen, FRCPC and Ng, Ho-keung, MD and Lu, Jian-Qiang, FRCPC and Albrecht, Steffen, MD and Pimentel, José, PhD and Chan, Jennifer A, MD and Somers, Gino R, MBBS and Zielenska, Maria, PhD and Faria, Claudia C, PhD and Roque, Lucia, PhD and Baskin, Berivan, PhD and Birks, Diane, MS and Foreman, Nick, Prof and Strother, Douglas, MD and Klekner, Almos, PhD and Garami, Miklos, PhD and Hauser, Peter, PhD and Hortobágyi, Tibor, PhD and Bognár, Laszló, PhD and Wilson, Beverly, MD and Hukin, Juliette, FRCPC and Carret, Anne-Sophie, MD and Van Meter, Timothy E, PhD and Nakamura, Hideo, MD and Toledano, Helen, MD and Fried, Iris, MD and Fults, Daniel, MD and Wataya, Takafumi, PhD and Fryer, Chris, FRCPC and Eisenstat, David D, MD and Scheineman, Katrin, Prof and Johnston, Donna, MD and Michaud, Jean, MD and Zelcer, Shayna, MD and Hammond, Robert, MD and Ramsay, David A, MBChB and Fleming, Adam J, MD and Lulla, Rishi R, MD and Fangusaro, Jason R, MD and Sirachainan, Nongnuch, MD and Larbcharoensub, Noppadol, MD and Hongeng, Suradej, MD and Barakzai, Muhammad Abrar, MD and Montpetit, Alexandre, PhD and Stephens, Derek, MSc and Grundy, Richard G, FRCPCH and Schüller, Ulrich, MD and Nicolaides, Theodore, MD and Tihan, Tarik, PhD and Phillips, Joanna, PhD and Taylor, Michael D, PhD and Rutka, James T, MD and Dirks, Peter, PhD and Bader, Gary D, PhD and Warmuth-Metz, Monika, Prof and Rutkowski, Stefan, Prof and Pietsch, Torsten, Prof and Judkins, Alexander R, MD and Jabado, Nada, PhD and Bouffet, Eric, Prof and Huang, Annie, Dr and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Institutionen för immunologi, genetik och patologi and Uppsala universitet and Medicinsk genetik och genomik
Lancet Oncology, The, ISSN 1470-2045, 2015, Volume 16, Issue 5, pp. 569 - 582
Journal Article
by Capper, David and Jones, David T. W and Sill, Martin and Hovestadt, Volker and Schrimpf, Daniel and Sturm, Dominik and Koelsche, Christian and Sahm, Felix and Chavez, Lukas and Reuss, David E and Kratz, Annekathrin and Wefers, Annika K and Huang, Kristin and Pajtler, Kristian W and Schweizer, Leonille and Stichel, Damian and Olar, Adriana and Engel, Nils W and Lindenberg, Kerstin and Harter, Patrick N and Braczynski, Anne K and Plate, Karl H and Dohmen, Hildegard and Garvalov, Boyan K and Coras, Roland and Hölsken, Annett and Hewer, Ekkehard and Bewerunge-Hudler, Melanie and Schick, Matthias and Fischer, Roger and Beschorner, Rudi and Schittenhelm, Jens and Staszewski, Ori and Wani, Khalida and Varlet, Pascale and Pages, Melanie and Temming, Petra and Lohmann, Dietmar and Selt, Florian and Witt, Hendrik and Milde, Till and Witt, Olaf and Aronica, Eleonora and Giangaspero, Felice and Rushing, Elisabeth and Scheurlen, Wolfram and Geisenberger, Christoph and Rodriguez, Fausto J and Becker, Albert and Preusser, Matthias and Haberler, Christine and Bjerkvig, Rolf and Cryan, Jane and Farrell, Michael and Deckert, Martina and Hench, Jürgen and Frank, Stephan and Serrano, Jonathan and Kannan, Kasthuri and Tsirigos, Aristotelis and Brück, Wolfgang and Hofer, Silvia and Brehmer, Stefanie and Seiz-Rosenhagen, Marcel and Hänggi, Daniel and Hans, Volkmar and Rozsnoki, Stephanie and Hansford, Jordan R and Kohlhof, Patricia and Kristensen, Bjarne W and Lechner, Matt and Lopes, Beatriz and Mawrin, Christian and Ketter, Ralf and Kulozik, Andreas and Khatib, Ziad and Heppner, Frank and Koch, Arend and Jouvet, Anne and Keohane, Catherine and Mühleisen, Helmut and Mueller, Wolf and Pohl, Ute and Prinz, Marco and Benner, Axel and Zapatka, Marc and Gottardo, Nicholas G and Driever, Pablo Hernáiz and Kramm, Christof M and Müller, Hermann L and Rutkowski, Stefan and Von Hoff, Katja and Frühwald, Michael C and Gnekow, Astrid and Fleischhack, Gudrun and Tippelt, Stephan and Calaminus, Gabriele and Monoranu, Camelia-Maria and Perry, Arie and Jones, Chris and ...
Nature, ISSN 0028-0836, 03/2018, Volume 555, Issue 7697, pp. 469 - 474
Journal Article
by Jones, David T. W and Hutter, Barbara and Jäger, Natalie and Korshunov, Aney and Kool, Marcel and Warnatz, Hans-Jörg and Zichner, Thomas and Lambert, Sally R and Ryzhova, Marina and Quang, Dong Anh Khuong and Fontebasso, Adam M and Stütz, Aian M and Hutter, Sonja and Zuckermann, Marc and Sturm, Dominik and Gronych, Jan and Lasitschka, Bärbel and Schmidt, Sabine and Seker-Cin, Huriye and Witt, Henik and Sultan, Marc and Ralser, Meryem and Northcott, Paul A and Hovestadt, Volker and Bender, Sebastian and Pfaff, Elke and Stark, Sebastian and Faury, Damien and Schwartzentruber, Jeremy and Majewski, Jacek and Weber, Ursula D and Zapatka, Marc and Raeder, Benjamin and Schlesner, Matthias and Worth, Catherine L and Bartholomae, Cynthia C and von Kalle, Christof and Imbusch, Charles D and Radomski, Sylwester and Lawerenz, Chris and van Sluis, Peter and Koster, Jan and Volckmann, Richard and Versteeg, Rogier and Lehrach, Hans and Monoranu, Camelia and Winkler, Beate and Unterberg, Aneas and Herold-Mende, Christel and Milde, Till and Kulozik, Aneas E and Ebinger, Martin and Schuhmann, Martin U and Cho, Yoon-Jae and Pomeroy, Scott L and von Deimling, Aneas and Witt, Olaf and Taylor, Michael D and Wolf, Stephan and Karajannis, Matthias A and Eberhart, Charles G and Scheurlen, Wolfram and Hasselblatt, Martin and Ligon, Keith L and Kieran, Mark W and Korbel, Jan O and Yaspo, Marie-Laure and Brors, Benedikt and Felsberg, Jörg and Reifenberger, Guido and Collins, V. Peter and Jabado, Nada and Eils, Roland and Lichter, Peter and Pfister, Stefan M and Int Canc Genome Consortium and International Cancer Genome Consortium PedBrain Tumor Project and the International Cancer Genome Consortium PedBrain Tumor Project
Nature genetics, ISSN 1061-4036, 2013, Volume 45, Issue 8, pp. 927 - 932
Journal Article