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Page 1
Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum.
Thorwarth A, Schnittert-Hübener S, Schrumpf P, Müller I, Jyrch S, Dame C, Biebermann H, Kleinau G, Katchanov J, Schuelke M, Ebert G, Steininger A, Bönnemann C, Brockmann K, Christen HJ, Crock P, deZegher F, Griese M, Hewitt J, Ivarsson S, Hübner C, Kapelari K, Plecko B, Rating D, Stoeva I, Ropers HH, Grüters A, Ullmann R, Krude H. Thorwarth A, et al. J Med Genet. 2014 Jun;51(6):375-87. doi: 10.1136/jmedgenet-2013-102248. Epub 2014 Apr 8. J Med Genet. 2014. PMID: 24714694 Free PMC article.
Genomic Evolution and Personalized Therapy of an Infantile Fibrosarcoma Harboring an NTRK Oncogenic Fusion.
Thorwarth A, Haase K, Röefzaad C, Pajtler KW, Schramm K, Hauptmann K, Behnke A, Vokuhl C, Elgeti T, Gratopp A, Schulte JH, Scheer M, Hernáiz Driever P, Nysom K, Eggert A, Henssen AG, Deubzer HE. Thorwarth A, et al. JCO Precis Oncol. 2022 May;6:e2100283. doi: 10.1200/PO.21.00283. JCO Precis Oncol. 2022. PMID: 35613412 Free PMC article. No abstract available.
Efficacy and safety of larotrectinib in TRK fusion-positive primary central nervous system tumors.
Doz F, van Tilburg CM, Geoerger B, Højgaard M, Øra I, Boni V, Capra M, Chisholm J, Chung HC, DuBois SG, Gallego-Melcon S, Gerber NU, Goto H, Grilley-Olson JE, Hansford JR, Hong DS, Italiano A, Kang HJ, Nysom K, Thorwarth A, Stefanowicz J, Tahara M, Ziegler DS, Gavrilovic IT, Norenberg R, Dima L, De La Cuesta E, Laetsch TW, Drilon A, Perreault S. Doz F, et al. Among authors: thorwarth a. Neuro Oncol. 2022 Jun 1;24(6):997-1007. doi: 10.1093/neuonc/noab274. Neuro Oncol. 2022. PMID: 34850167 Free PMC article. Clinical Trial.
Pediatric Patients with Stage IV Rhabdomyosarcoma Significantly Benefit from Long-Term Maintenance Therapy: Results of the CWS-IV 2002 and the CWS DOK IV 2004-Trials.
Tramsen L, Bochennek K, Sparber-Sauer M, Salzmann-Manrique E, Scheer M, Dantonello T, Borkhardt A, Dirksen U, Thorwarth A, Greiner J, Ebinger M, Weclawek-Tompol J, Ladenstein R, Ljungman G, Hallmen E, Lehrnbecher T, Koscielniak E, Klingebiel T. Tramsen L, et al. Among authors: thorwarth a. Cancers (Basel). 2023 Mar 30;15(7):2050. doi: 10.3390/cancers15072050. Cancers (Basel). 2023. PMID: 37046711 Free PMC article.