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2022
Houge, Gunnar, Laner, Andreas, Cirak, Sebahattin, de Leeuw, Nicole, Scheffer, Hans and den Dunnen, Johan T. (2022). Stepwise ABC system for classification of any type of genetic variant. Eur. J. Hum. Genet., 30 (2). S. 150 - 160. LONDON: SPRINGERNATURE. ISSN 1476-5438
2016
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
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
2015
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