1. Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome. (28th September 2022) Authors: Hendricks, Linda A J; Hoogerbrugge, Nicoline; Mensenkamp, Arjen R; Brunet, Joan; Lleuger-Pujol, Roser; Høberg-Vetti, Hildegunn; Tveit Haavind, Marianne; Innella, Giovanni; Turchetti, Daniela; Aretz, Stefan; Spier, Isabel; Tischkowitz, Marc; Jahn, Arne; Links, Thera P; Olderode-Berends, Maran J W;... Journal: Journal of the National Cancer Institute Issue: Volume 115:Number 1(2023) Page Start: 93 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature. Issue 9 (26th July 2012) Authors: Begemann, Matthias; Spengler, Sabrina; Gogiel, Magdalena; Grasshoff, Ute; Bonin, Michael; Betz, Regina C; Dufke, Andreas; Spier, Isabel; Eggermann, Thomas Journal: Journal of medical genetics Issue: Volume 49:Issue 9(2012) Page Start: 547 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Copy number variation analysis and targeted NGS in 77 families with suspected Lynch syndrome reveals novel potential causative genes. Issue 11 (3rd October 2018) Authors: 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; Büttner, Reinhard; Wijnen, Juul; Doerks, Tobias; Bork, Peer; Moebus, Sus... Journal: International journal of cancer Issue: Volume 143:Issue 11(2018) Page Start: 2800 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. First estimates of diffuse gastric cancer risks for carriers of CTNNA1 germline pathogenic variants. Issue 12 (29th August 2022) Authors: Coudert, Marie; Drouet, Youenn; Delhomelle, Hélène; Svrcek, Magali; Benusiglio, Patrick R; Coulet, Florence; Clark, Dana Farengo; Katona, Bryson W; van Hest, Liselotte P; van der Kolk, Lizet E; Cats, Annemieke; van Dieren, Jolanda M; Nehoray, Bita; Slavin, Thomas; Spier, Isabel; Hüneburg, Robert;... Journal: Journal of medical genetics Issue: Volume 59:Issue 12(2022) Page Start: 1189 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas. Issue 2 (20th January 2015) Authors: Spier, Isabel; Holzapfel, Stefanie; Altmüller, Janine; Zhao, Bixiao; Horpaopan, Sukanya; Vogt, Stefanie; Chen, Sophia; Morak, Monika; Raeder, Susanne; Kayser, Katrin; Stienen, Dietlinde; Adam, Ronja; Nürnberg, Peter; Plotz, Guido; Holinski‐Feder, Elke; Lifton, Richard P.; Thiele, Holger; Hoffmann... Journal: International journal of cancer Issue: Volume 137:Issue 2(2015:Jul. 15) Page Start: 320 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Genome‐wide CNV analysis in 221 unrelated patients and targeted high‐throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis. Issue 6 (30th September 2014) Authors: Horpaopan, Sukanya; Spier, Isabel; Zink, Alexander M.; Altmüller, 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; Degen... Journal: International journal of cancer Issue: Volume 136:Issue 6(2015:Mar. 15) Page Start: E578 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes. Issue 1 (January 2023) Authors: Garcia-Pelaez, José; Barbosa-Matos, Rita; Lobo, Silvana; Dias, Alexandre; Garrido, Luzia; Castedo, Sérgio; Sousa, Sónia; Pinheiro, Hugo; Sousa, Liliana; Monteiro, Rita; Maqueda, Joaquin J; Fernandes, Susana; Carneiro, Fátima; Pinto, Nádia; Lemos, Carolina; Pinto, Carla; Teixeira, Manuel R; Aretz,... Journal: Lancet oncology Issue: Volume 24:Issue 1(2023) Page Start: 91 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases. Issue 3 (27th November 2015) Authors: 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, ... Journal: Journal of medical genetics Issue: Volume 53:Issue 3(2016) Page Start: 172 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Male infant with paternal uniparental diploidy mosaicism and a 46, XX/46, XY karyotype. Issue 11 (1st August 2019) Authors: Spier, Isabel; Engels, Hartmut; Stutte, Sonja; Reutter, Heiko; Bartels, Enrika; Matos Meder, Sarah; Begemann, Matthias; Mangold, Elisabeth; Eggermann, Thomas Journal: American journal of medical genetics Issue: Volume 179:Issue 11(2019) Page Start: 2252 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. MTOR inhibitors reduce enteropathy, intestinal bleeding and colectomy rate in patients with juvenile polyposis of infancy with PTEN-BMPR1A deletion. Issue 14 (2nd April 2021) Authors: Taylor, Henry; Yerlioglu, Dilay; Phen, Claudia; Ballauff, Antje; Nedelkopoulou, Natalia; Spier, Isabel; Loverdos, Inés; Busoni, Veronica B; Heise, Jürgen; Dale, Peter; de Meij, Tim; Sweet, Kevin; Cohen, Marta C; Fox, Victor L; Mas, Emmanuel; Aretz, Stefan; Eng, Charis; Buderus, Stephan; Thomson, ... Journal: Human molecular genetics Issue: Volume 30:Issue 14(2021) Page Start: 1273 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗