1. Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum. Issue 6 (8th April 2014) Authors: Thorwarth, Anne; Schnittert-Hübener, Sarah; Schrumpf, Pamela; Müller, Ines; Jyrch, Sabine; Dame, Christof; Biebermann, Heike; Kleinau, Gunnar; Katchanov, Juri; Schuelke, Markus; Ebert, Grit; Steininger, Anne; Bönnemann, Carsten; Brockmann, Knut; Christen, Hans-Jürgen; Crock, Patricia; deZegher, F... Journal: Journal of medical genetics Issue: Volume 51:Issue 6(2014) Page Start: 375 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Efficacy and safety of larotrectinib in TRK fusion-positive primary central nervous system tumors. Issue 6 (27th November 2021) Authors: Doz, François; van Tilburg, Cornelis M; Geoerger, Birgit; Højgaard, Martin; Øra, Ingrid; Boni, Valentina; Capra, Michael; Chisholm, Julia; Chung, Hyun Cheol; DuBois, Steven G; Gallego-Melcon, Soledad; Gerber, Nicolas U; Goto, Hiroaki; Grilley-Olson, Juneko E; Hansford, Jordan R; Hong, David S; It... Journal: Neuro-oncology Issue: Volume 24:Issue 6(2022) Page Start: 997 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Genomic Evolution and Personalized Therapy of an Infantile Fibrosarcoma Harboring an NTRK Oncogenic Fusion. (25th May 2022) Authors: Thorwarth, Anne; Haase, Kerstin; Röefzaad, Claudia; Pajtler, Kristian W.; Schramm, Kathrin; Hauptmann, Kathrin; Behnke, Anke; Vokuhl, Christian; Elgeti, Thomas; Gratopp, Alexander; Schulte, Johannes H.; Scheer, Monika; Hernáiz Driever, Pablo; Nysom, Karsten; Eggert, Angelika; Henssen, Anton G.; D... Journal: JCO precision oncology Issue: Volume 6(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Juvenile arthritis caused by a novel FAMIN (LACC1) mutation in two children with systemic and extended oligoarticular course. Issue 1 (December 2016) Authors: Kallinich, Tilmann; Thorwarth, Anne; von Stuckrad, Sae-Lim; Rösen-Wolff, Angela; Luksch, Hella; Hundsdoerfer, Patrick; Minden, Kirsten; Krawitz, Peter Journal: Pediatric rheumatology online journal Issue: Volume 14:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗