1. Biallelic CCM3 mutations cause a clonogenic survival advantage and endothelial cell stiffening. Issue 3 (13th December 2018) Authors: Schwefel, Konrad; Spiegler, Stefanie; Ameling, Sabine; Much, Christiane D.; Pilz, Robin A.; Otto, Oliver; Völker, Uwe; Felbor, Ute; Rath, Matthias Journal: Journal of cellular and molecular medicine Issue: Volume 23:Issue 3(2019) Page Start: 1771 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations. Issue 1 (20th December 2016) Authors: Rath, Matthias; Spiegler, Stefanie; Nath, Neetika; Schwefel, Konrad; Di Donato, Nataliya; Gerber, Johannes; Korenke, G. Christoph; Hellenbroich, Yorck; Hehr, Ute; Gross, Stephanie; Sure, Ulrich; Zoll, Barbara; Gilberg, Eberhard; Kaderali, Lars; Felbor, Ute Journal: Molecular genetics & genomic medicine Issue: Volume 5:Issue 1(2017) Page Start: 21 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Fibronectin rescues aberrant phenotype of endothelial cells lacking either CCM1, CCM2 or CCM3. Issue 7 (9th June 2020) Authors: Schwefel, Konrad; Spiegler, Stefanie; Kirchmaier, Bettina C.; Dellweg, Patricia K. E.; Much, Christiane D.; Pané‐Farré, Jan; Strom, Tim M.; Riedel, Katharina; Felbor, Ute; Rath, Matthias Journal: FASEB journal Issue: Volume 34:Issue 7(2020) Page Start: 9018 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one‐third of probands are minors. Issue 2 (14th January 2014) Authors: Spiegler, Stefanie; Najm, Juliane; Liu, Jian; Gkalympoudis, Stephanie; Schröder, Winnie; Borck, Guntram; Brockmann, Knut; Elbracht, Miriam; Fauth, Christine; Ferbert, Andreas; Freudenberg, Leonie; Grasshoff, Ute; Hellenbroich, Yorck; Henn, Wolfram; Hoffjan, Sabine; Hüning, Irina; Korenke, G. Chri... Journal: Molecular genetics & genomic medicine Issue: Volume 2:Issue 2(2014:Mar.) Page Start: 176 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing. Issue 2 (17th December 2018) Authors: Rath, Matthias; Spiegler, Stefanie; Strom, Tim M.; Trenkler, Johannes; Kroisel, Peter Michael; Felbor, Ute Journal: American journal of medical genetics Issue: Volume 179:Issue 2(2019) Page Start: 295 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. Issue 9 (13th September 2019) Authors: Parsons, Michael T.; Tudini, Emma; Li, Hongyan; Hahnen, Eric; Wappenschmidt, Barbara; Feliubadaló, Lidia; Aalfs, Cora M.; Agata, Simona; Aittomäki, Kristiina; Alducci, Elisa; Alonso‐Cerezo, María Concepción; Arnold, Norbert; Auber, Bernd; Austin, Rachel; Azzollini, Jacopo; Balmaña, Judith; Barbie... Editors: Moult, John; Brenner, Steven E. Other Names: Karchin Rachel guestEditor.; Pal Lipika R. specialEditor. Journal: Human mutation Issue: Volume 40:Issue 9(2019) Page Start: 1557 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Loss of CCM3 impairs DLL4‐Notch signalling: implication in endothelial angiogenesis and in inherited cerebral cavernous malformations. Issue 3 (7th February 2013) Authors: You, Chao; Erol Sandalcioglu, Ibrahim; Dammann, Philipp; Felbor, Ute; Sure, Ulrich; Zhu, Yuan Journal: Journal of cellular and molecular medicine Issue: Volume 17:Issue 3(2013) Page Start: 407 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1, 2-dioxygenase gene. Issue 6 (1st June 1999) Authors: Felbor, Ute; Mutsch, Yvonne; Grehn, Franz; Müller, Clemens R; Kress, Wolfram Journal: British journal of ophthalmology Issue: Volume 83:Issue 6(1999) Page Start: 680 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Postzygotic mosaicism in cerebral cavernous malformation. Issue 3 (24th August 2019) Authors: Rath, Matthias; Pagenstecher, Axel; Hoischen, Alexander; Felbor, Ute Journal: Journal of medical genetics Issue: Volume 57:Issue 3(2020) Page Start: 212 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Precise CCM1 gene correction and inactivation in patient‐derived endothelial cells: Modeling Knudson's two‐hit hypothesis in vitro. Issue 7 (23rd May 2019) Authors: Spiegler, Stefanie; Rath, Matthias; Much, Christiane D.; Sendtner, Barbara S.; Felbor, Ute Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 7(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗