Anzahl der Publikationen: 4
Zeitschriftenartikel
Kayser, Katrin; Degenhardt, Franziska; Holzapfel, Stefanie; Horpaopan, Sukanya; Peters, Sophia; Spier, Isabel; Morak, Monika; Vangala, Deepak; Rahner, Nils; Knebel Doeberitz, Magnus von; Schackert, Hans K.; Engel, Christoph; Büttner, Reinhard; Wijnen, Juul; Doerks, Tobias; Bork, Peer; Moebus, Susanne; Herms, Stefan; Fischer, Sascha; Hoffmann, Per; Aretz, Stefan und Steinke-Lange, Verena
(2018):
Copy number variation analysis and targeted NGS in 77 families with suspected Lynch syndrome reveals novel potential causative genes.
In: International Journal of Cancer, Bd. 143, Nr. 11: S. 2800-2813
Spier, Isabel; Kerick, Martin; Drichel, Dmitriy; Horpaopan, Sukanya; Altmüller, Janine; Laner, Andreas; Holzapfel, Stefanie; Peters, Sophia; Adam, Ronja; Zhao, Bixiao; Becker, Tim; Lifton, Richard P.; Holinski-Feder, Elke; Perner, Sven; Thiele, Holger; Nöthen, Markus M.; Hoffmann, Per; Timmermann, Bernd; Schweiger, Michal R. und Aretz, Stefan
(2016):
Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis.
In: Familial Cancer, Bd. 15, Nr. 2: S. 281-288
Spier, Isabel; Drichel, Dmitriy; Kerick, Martin; Kirfel, Jutta; Horpaopan, Sukanya; Laner, Andreas; Holzapfel, Stefanie; Peters, Sophia; Adam, Ronja; Zhao, Bixiao; Becker, Tim; Lifton, Richard P.; Perner, Sven; Hoffmann, Per; Kristiansen, Glen; Timmermann, Bernd; Nöthen, Markus M.; Holinski-Feder, Elke; Schweiger, Michal R. und Aretz, Stefan
(2016):
Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases.
In: Journal of Medical Genetics, Bd. 53, Nr. 3: S. 172-179
[PDF, 1MB]
Adam, Ronja; Spier, Isabel; Zhao, Bixiao; 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; Nöthen, Markus M.; Buettner, Reinhard; Möslein, Gabriela; Betz, Regina C.; Brieger, Angela; Lifton, Richard P. und Aretz, Stefan
(2016):
Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.
In: American Journal of Human Genetics, Bd. 99, Nr. 2: S. 337-351
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