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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, 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
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