Universität zu Köln

Journal Article

Adam, Ronja, Spier, Isabel, Zhao, Bixiao ORCID: 0000-0002-1775-1690, Kloth, Michael, Marquez, Jonathan, Hinrichsen, Inga, Kirfel, Jutta, Tafazzoli, Aylar, Horpaopan, Sukanya, Uhlhaas, Siegfried, Stienen, Dietlinde, Friedrichs, Nicolaus, Altmueller, Janine, Laner, Andreas, Holzapfel, Stefanie, Peters, Sophia, Kayser, Katrin, Thiele, Holger, Holinski-Feder, Elke, Marra, Giancarlo, Kristiansen, Glen, Noethen, Markus M., Buettner, Reinhard, Moeslein, Gabriela, Betz, Regina C., Brieger, Angela, Lifton, Richard P. and Aretz, Stefan ORCID: 0000-0002-5228-1890 (2016). Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis. Am. J. Hum. Genet., 99 (2). S. 337 - 352. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Binder, Hans, Hopp, Lydia, Schweiger, Michal R., Hoffmann, Steve, Juehling, Frank, Kerick, Martin ORCID: 0000-0002-6298-4514, Timmermann, Bernd, Siebert, Susann, Grimm, Christina ORCID: 0000-0002-4676-8870, Nersisyan, Lilit ORCID: 0000-0001-8525-420X, Arakelyan, Arsen ORCID: 0000-0002-6851-1056, Herberg, Maria, Buske, Peter, Loeffler-Wirth, Henry, Rosolowski, Maciej, Engel, Christoph ORCID: 0000-0002-7247-282X, Przybilla, Jens, Peifer, Martin ORCID: 0000-0002-5243-5503, Friedrichs, Nicolaus, Moeslein, Gabriela, Odenthal, Margarete, Hussong, Michelle, Peters, Sophia, Holzapfel, Stefanie, Nattermann, Jacob, Hueneburg, Robert, Schmiegel, Wolff, Royer-Pokora, Brigitte, Aretz, Stefan ORCID: 0000-0002-5228-1890, Kloth, Michael, Kloor, Matthias, Buettner, Reinhard, Galle, Joerg and Loeffler, Markus (2017). Genomic and transcriptomic heterogeneity of colorectal tumours arising in Lynch syndrome. J. Pathol., 243 (2). S. 242 - 255. HOBOKEN: WILEY. ISSN 1096-9896

Horpaopan, Sukanya, Kirfel, Jutta, Peters, Sophia, Kloth, Michael, Hueneburg, Robert, Altmueller, Janine, Drichel, Dmitriy ORCID: 0000-0001-5978-3458, Odenthal, Margarete, Kristiansen, Glen, Strassburg, Christian, Nattermann, Jacob, Hoffmann, Per, Nuernberg, Peter, Buettner, Reinhard, Thiele, Holger, Kahl, Philip, Spier, Isabel and Aretz, Stefan ORCID: 0000-0002-5228-1890 (2017). Exome sequencing characterizes the somatic mutation spectrum of early serrated lesions in a patient with serrated polyposis syndrome (SPS). Hered. Cancer Clin. Pract., 15. LONDON: BIOMED CENTRAL LTD. ISSN 1897-4287

Kayser, Katrin, Degenhardt, Franziska, Holzapfel, Stefanie, Horpaopan, Sukanya, Peters, Sophia, Spier, Isabel, Morak, Monika, Vangala, Deepak, Rahner, Nils, von Knebel-Doeberitz, Magnus, Schackert, Hans K., Engel, Christoph ORCID: 0000-0002-7247-282X, Buettner, Reinhard, Wijnen, Juul, Doerks, Tobias, Bork, Peer, Moebus, Susanne, Herms, Stefan ORCID: 0000-0002-2786-8200, Fischer, Sascha, Hoffmann, Per, Aretz, Stefan ORCID: 0000-0002-5228-1890 and Steinke-Lange, Verena (2018). Copy number variation analysis and targeted NGS in 77 families with suspected Lynch syndrome reveals novel potential causative genes. Int. J. Cancer, 143 (11). S. 2800 - 2814. HOBOKEN: WILEY. ISSN 1097-0215

Perne, Claudia, Peters, Sophia, Cartolano, Maria, Horpaopan, Sukanya, Grimm, Christina, Altmuller, Janine, Sommer, Anna K., Hillmer, Axel M., Thiele, Holger, Odenthal, Margarete, Moeslein, Gabriela, Adam, Ronja, Sivalingam, Sugirthan, Kirfel, Jutta, Schweiger, Michal R., Peifer, Martin, Spier, Isabel and Aretz, Stefan (2021). Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis. PLoS One, 16 (11). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Spier, Isabel, Drichel, Dmitriy ORCID: 0000-0001-5978-3458, Kerick, Martin ORCID: 0000-0002-6298-4514, Kirfel, Jutta, Horpaopan, Sukanya, Laner, Andreas, Holzapfel, Stefanie, Peters, Sophia, Adam, Ronja, Zhao, Bixiao ORCID: 0000-0002-1775-1690, Becker, Tim, Lifton, Richard P., Perner, Sven, Hoffmann, Per, Kristiansen, Glen, Timmermann, Bernd, Noethen, Markus M., Holinski-Feder, Elke, Schweiger, Michal R. and Aretz, Stefan ORCID: 0000-0002-5228-1890 (2016). Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases. J. Med. Genet., 53 (3). S. 172 - 180. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-6244

Spier, Isabel, Kerick, Martin ORCID: 0000-0002-6298-4514, Drichel, Dmitriy ORCID: 0000-0001-5978-3458, Horpaopan, Sukanya, Altmueller, Janine, Laner, Andreas, Holzapfel, Stefanie, Peters, Sophia, Adam, Ronja, Zhao, Bixiao ORCID: 0000-0002-1775-1690, Becker, Tim, Lifton, Richard P., Holinski-Feder, Elke, Perner, Sven, Thiele, Holger, Noethen, Markus M., Hoffmann, Per, Timmermann, Bernd, Schweiger, Michal R. and Aretz, Stefan ORCID: 0000-0002-5228-1890 (2016). Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis. Fam. Cancer, 15 (2). S. 281 - 289. DORDRECHT: SPRINGER. ISSN 1573-7292