Universität zu Köln

Journal Article

Boegershausen, Nina, Krawczyk, Hannah E., Jamra, Rami A., Lin, Sheng-Jia ORCID: 0000-0002-7559-6529, Yigit, Goekhan, Huening, Irina, Polo, Anna M., Vona, Barbara ORCID: 0000-0002-6719-3447, Huang, Kevin ORCID: 0000-0002-2512-7812, Schmidt, Julia, Altmueller, Janine, Luppe, Johannes, Platzer, Konrad, Doergeloh, Beate B., Busche, Andreas, Biskup, Saskia, Mendes, Marisa, I, Smith, Desiree E. C., Salomons, Gajja S., Zibat, Arne, Bueltmann, Eva, Nuernberg, Peter, Spielmann, Malte, Lemke, Johannes R., Li, Yun, Zenker, Martin, Varshney, Gaurav K. ORCID: 0000-0002-0429-1904, Hillen, Hauke S., Kratz, Christian P. and Wollnik, Bernd ORCID: 0000-0003-2589-0364 (2022). WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly. Hum. Mutat., 43 (10). S. 1454 - 1472. HOBOKEN: WILEY. ISSN 1098-1004

Gallon, Richard ORCID: 0000-0002-5395-0099, Muehlegger, Barbara, Wenzel, Soeren-Sebastian, Sheth, Harsh, Hayes, Christine, Aretz, Stefan ORCID: 0000-0002-5228-1890, Dahan, Karin, Foulkes, William, Kratz, Christian P., Ripperger, Tim, Azizi, Amedeo A., Feldman, Hagit Baris, Chong, Anne-Laure, Demirsoy, Ugur, Florkin, Benoit, Imschweiler, Thomas, Januszkiewicz-Lewandowska, Danuta ORCID: 0000-0003-2332-2750, Lobitz, Stephan ORCID: 0000-0001-5398-0610, Nathrath, Michaela, Pander, Hans-Juergen, Perez-Alonso, Vanesa, Perne, Claudia, Ragab, Iman, Rosenbaum, Thorsten, Rueda, Daniel ORCID: 0000-0002-5377-8890, Seidel, Markus G. ORCID: 0000-0003-0981-8661, Suerink, Manon, Taeubner, Julia, Zimmermann, Stefanie-Yvonne, Zschocke, Johannes, Borthwick, Gillian M., Burn, John, Jackson, Michael S., Santibanez-Koref, Mauro and Wimmer, Katharina (2019). A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes. Hum. Mutat., 40 (5). S. 649 - 656. HOBOKEN: WILEY. ISSN 1098-1004

Groebner, Susanne N., Worst, Barbara C., Weischenfeldt, Joachim ORCID: 0000-0002-3917-5524, Buchhalter, Ivo ORCID: 0000-0003-0764-5832, Kleinheinz, Kortine, Rudneva, Vasilisa A., Johann, Pascal D., Balasubramanian, Gnana Prakash, Segura-Wang, Maia ORCID: 0000-0003-2424-618X, Brabetz, Sebastian, Bender, Sebastian, Hutter, Barbara, Sturm, Dominik ORCID: 0000-0003-0250-1696, Pfaff, Elke, Huebschmann, Daniel ORCID: 0000-0002-6041-7049, Zipprich, Gideon, Heinold, Michael, Eils, Jurgen, Lawerenz, Christian, Erkek, Serap ORCID: 0000-0003-4439-5203, Lambo, Sander, Waszak, Sebastian ORCID: 0000-0003-3042-9521, Blattmann, Claudia, Borkhardt, Arndt, Kuhlen, Michaela, Eggert, Angelika, Fulda, Simone ORCID: 0000-0002-0459-6417, Gessler, Manfred ORCID: 0000-0002-7915-6045, Wegert, Jenny, Kappler, Roland ORCID: 0000-0002-8581-2803, Baumhoer, Daniel, Burdach, Stefan, Kirschner-Schwabe, Renate ORCID: 0000-0001-6335-3274, Kontny, Udo, Kulozik, Andreas E., Lohmann, Dietmar, Hettmer, Simone, Eckert, Cornelia, Bielack, Stefan, Nathrath, Michaela, Niemeyer, Charlotte, Richter, Gunther H., Schulte, Johannes, Siebert, Reiner, Westermann, Frank, Molenaar, Jan J., Vassal, Gilles, Witt, Hendrik, Burkhardt, Birgit, Kratz, Christian P., Witt, Olaf, van Tilburg, Cornelis M., Kramm, Christof M., Fleischhack, Gudrun, Dirksen, Uta, Rutkowski, Stefan, Fruhwald, Michael, von Hoff, Katja, Wolf, Stephan, Klingebiel, Thomas, Koscielniak, Ewa, Landgraf, Pablo, Koster, Jan ORCID: 0000-0002-0890-7585, Resnick, Adam C., Zhang, Jinghui, Liu, Yanling, Zhou, Xin, Waanders, Angela J., Zwijnenburg, Danny A., Raman, Pichai, Brors, Benedikt ORCID: 0000-0001-5940-3101, Weber, Ursula D., Northcott, Paul A., Pajtler, Kristian W. ORCID: 0000-0002-3562-6121, Kool, Marcel, Piro, Rosario M. ORCID: 0000-0002-3066-7397, Korbel, Jan O., Schlesner, Matthias ORCID: 0000-0002-5896-4086, Eils, Roland ORCID: 0000-0002-0034-4036, Jones, David T. W., Lichter, Peter, Chavez, Lukas ORCID: 0000-0002-8718-8848, Zapatka, Marc ORCID: 0000-0001-8287-5967 and Pfister, Stefan M. (2018). The landscape of genomic alterations across childhood cancers. Nature, 555 (7696). S. 321 - 344. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-4687

Reschke, Madlen ORCID: 0000-0003-1706-1160, Biewald, Eva, Bronstein, Leo, Brecht, Ines B., Dittner-Moormann, Sabine, Driever, Frank, Ebinger, Martin ORCID: 0000-0002-4229-8058, Fleischhack, Gudrun ORCID: 0000-0001-5714-007X, Grabow, Desiree, Geismar, Dirk, Goricke, Sophia, Guberina, Maja, Le Guin, Claudia H. D., Kiefer, Tobias, Kratz, Christian P., Metz, Klaus, Muller, Bert, Ryl, Tatsiana, Schlamann, Marc, Schluter, Sabrina, Schonberger, Stefan ORCID: 0000-0002-7222-296X, Schulte, Johannes H., Sirin, Selma ORCID: 0000-0003-4555-0367, Susskind, Daniela, Timmermann, Beate, Ting, Saskia ORCID: 0000-0003-1415-7714, Wackernagel, Werner, Wieland, Regina, Zenker, Martin, Zeschnigk, Michael, Reinhardt, Dirk ORCID: 0000-0002-7027-4483, Eggert, Angelika ORCID: 0000-0003-3476-8184, Ritter-Sovinz, Petra, Lohmann, Dietmar R., Bornfeld, Norbert, Bechrakis, Nikolaos and Ketteler, Petra ORCID: 0000-0002-8138-0441 (2021). Eye Tumors in Childhood as First Sign of Tumor Predisposition Syndromes: Insights from an Observational Study Conducted in Germany and Austria. Cancers, 13 (8). BASEL: MDPI. ISSN 2072-6694

Ripperger, Tim ORCID: 0000-0001-6470-8612, Bielack, Stefan S., Borkhardt, Arndt, Brecht, Ines B., Burkhardt, Birgit, Calaminus, Gabriele, Debatin, Klaus-Michael ORCID: 0000-0002-8397-1886, Deubzer, Hedwig, Dirksen, Uta, Eckert, Cornelia, Eggert, Angelika, Erlacher, Miriam, Fleischhack, Gudrun, Fruehwald, Michael C., Gnekow, Astrid, Goehring, Gudrun, Graf, Norbert ORCID: 0000-0002-2248-323X, Hanenberg, Helmut, Hauer, Julia, Hero, Barbara, Hettmer, Simone, von Hoff, Katja, Horstmann, Martin, Hoyer, Juliane, Illig, Thomas, Kaatsch, Peter, Kappler, Roland ORCID: 0000-0002-8581-2803, Kerl, Kornelius, Klingebiel, Thomas, Kontny, Udo, Kordes, Uwe ORCID: 0000-0001-6375-2320, Koerholz, Dieter, Koscielniak, Ewa, Kramm, Christof M., Kuhlen, Michaela, Kulozik, Andreas E., Lamottke, Britta, Leuschner, Ivo, Lohmann, Dietmar R. ORCID: 0000-0002-2624-9889, Meinhardt, Andrea, Metzler, Markus ORCID: 0000-0002-4523-1676, Meyer, Lder H., Moser, Olga, Nathrath, Michaela, Niemeyer, Charlotte M., Nustede, Rainer, Pajtler, Kristian W. ORCID: 0000-0002-3562-6121, Paret, Claudia ORCID: 0000-0002-9094-1634, Rasche, Mareike, Reinhardt, Dirk, Riess, Olaf, Russo, Alexandra, Rutkowski, Stefan, Schlegelberger, Brigitte, Schneider, Dominik, Schneppenheim, Reinhard, Schrappe, Martin, Schroeder, Christopher, von Schweinitz, Dietrich, Simon, Thorsten, Sparber-Sauer, Monika, Spix, Claudia, Stanulla, Martin ORCID: 0000-0002-3834-0727, Steinemann, Doris, Strahm, Brigitte, Temming, Petra, Thomay, Kathrin, von Bueren, Andre O., Vorwerk, Peter, Witt, Olaf, Wlodarski, Marcin, Woessmann, Willy, Zenker, Martin, Zimmermann, Stefanie, Pfister, Stefan M. and Kratz, Christian P. (2017). Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology. Am. J. Med. Genet. A, 173 (4). S. 1017 - 1038. HOBOKEN: WILEY. ISSN 1552-4833

Rippinger, Nathalie, Fischer, Christine, Haun, Markus W. ORCID: 0000-0003-1851-3747, Rhiem, Kerstin, Grill, Sabine, Kiechle, Marion, Cremer, Friedrich W., Kast, Karin, Nguyen, Huu P., Ditsch, Nina, Kratz, Christian P., Vogel, Julia, Speiser, Dorothee, Hettmer, Simone, Glimm, Hanno, Froehling, Stefan, Jaeger, Dirk, Seitz, Stephan, Hahne, Andrea, Maatouk, Imad, Sutter, Christian, Schmutzler, Rita K., Dikow, Nicola and Schott, Sarah (2020). Cancer surveillance and distress among adult pathogenicTP53germline variant carriers in Germany: A multicenter feasibility and acceptance survey. Cancer, 126 (17). S. 4032 - 4042. HOBOKEN: WILEY. ISSN 1097-0142

Rippinger, Nathalie, Fischer, Christine, Sinn, Hans-Peter ORCID: 0000-0003-2836-6699, Dikow, Nicola, Sutter, Christian, Rhiem, Kerstin, Grill, Sabine, Cremer, Friedrich W., Nguyen, Huu P., Ditsch, Nina, Kast, Karin, Hettmer, Simone, Kratz, Christian P. and Schott, Sarah (2021). Breast cancer characteristics and surgery among women with Li-Fraumeni syndrome in Germany-A retrospective cohort study. Cancer Med., 10 (21). S. 7747 - 7759. HOBOKEN: WILEY. ISSN 2045-7634