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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