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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
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
Horpaopan, Sukanya, Spier, Isabel, Zink, Alexander M., Altmueller, Janine, Holzapfel, Stefanie, Laner, Andreas, Vogt, Stefanie, Uhlhaas, Siegfried, Heilmann, Stefanie, Stienen, Dietlinde, Pasternack, Sandra M., Keppler, Kathleen, Adam, Ronja, Kayser, Katrin, Moebus, Susanne, Draaken, Markus ORCID: 0000-0002-4546-0786, Degenhardt, Franziska, Engels, Hartmut, Hofmann, Andrea, Noethen, Markus M., Steinke, Verena, Perez-Bouza, Alberto, Herms, Stefan
ORCID: 0000-0002-2786-8200, Holinski-Feder, Elke, Froehlich, Holger, Thiele, Holger, Hoffmann, Per and Aretz, Stefan
ORCID: 0000-0002-5228-1890
(2015).
Genome-wide CNV analysis in 221 unrelated patients and targeted high-throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis.
Int. J. Cancer, 136 (6).
S. E578 - 12.
HOBOKEN:
WILEY.
ISSN 1097-0215
Horpaopan, Sukanya, Spier, Isabel, Zink, Alexander M., Altmueller, Janine, Holzapfel, Stefanie, Laner, Andreas, Vogt, Stefanie, Uhlhaas, Siegfried, Heilmann, Stefanie, Stienen, Dietlinde, Pasternack, Sandra M., Keppler, Kathleen, Adam, Ronja, Kayser, Katrin, Moebus, Susanne, Draaken, Markus ORCID: 0000-0002-4546-0786, Degenhardt, Franziska, Engels, Hartmut, Hofmann, Andrea, Noethen, Markus M., Steinke, Verena, Perez-Bouza, Alberto, Herms, Stefan
ORCID: 0000-0002-2786-8200, Holinski-Feder, Elke, Froehlich, Holger, Thiele, Holger, Hoffmann, Per and Aretz, Stefan
ORCID: 0000-0002-5228-1890
(2015).
Genome-wide CNV analysis in 221 unrelated patients and targeted high-throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis.
Int. J. Cancer, 136 (6).
S. E578 - 12.
HOBOKEN:
WILEY.
ISSN 1097-0215
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, Holzapfel, Stefanie, Altmueller, Janine, Zhao, Bixiao ORCID: 0000-0002-1775-1690, Horpaopan, Sukanya, Vogt, Stefanie, Chen, Sophia, Morak, Monika, Raeder, Susanne, Kayser, Katrin, Stienen, Dietlinde, Adam, Ronja, Nuernberg, Peter, Plotz, Guido, Holinski-Feder, Elke, Lifton, Richard P., Thiele, Holger, Hoffmann, Per, Steinke, Verena and Aretz, Stefan
ORCID: 0000-0002-5228-1890
(2015).
Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas.
Int. J. Cancer, 137 (2).
S. 320 - 332.
HOBOKEN:
WILEY-BLACKWELL.
ISSN 1097-0215
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