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2022

Unraveling structural rearrangements of the CFH gene cluster in atypical hemolytic uremic syndrome patients using molecular combing and long-fragment targeted sequencing.
Tschernoster, N. and Erger, F. and Walsh, P.R. and McNicholas, B. and Fistrek, M. and Habbig, S. and Schumacher, L. and Folz-Donahue, K. and Kukat, C. and Toliat, M.R. and Becker, C. and Thiele, H. and Kavanagh, D. and Nürnberg, P. and Beck, B. and Altmüller, J.
Journal of Molecular Diagnostics 24 (6): 619-631. June 2022

2020

Multiplexed quantification of four neuroblastoma DNA targets in a single droplet digital PCR reaction.
Peitz, C. and Sprüssel, A. and Linke, R.B. and Astrahantseff, K. and Grimaldi, M. and Schmelz, K. and Toedling, J. and Schulte, J.H. and Fischer, M. and Messerschmidt, C. and Beule, D. and Keilholz, U. and Eggert, A. and Deubzer, H.E. and Lodrini, M.
Journal of Molecular Diagnostics 22 (11): 1309-1323. November 2020

Analysis of driver mutational hot spots in blood-derived cell-free DNA of patients with primary central nervous system lymphoma obtained before intracerebral biopsy.
Montesinos-Rongen, M. and Brunn, A. and Tuchscherer, A. and Borchmann, P. and Schorb, E. and Kasenda, B. and Altmüller, J. and Illerhaus, G. and Ruge, M.I. and Maarouf, M. and Büttner, R. and Hansmann, M.L. and Hallek, M. and Prinz, M. and Siebert, R. and Deckert, M.
Journal of Molecular Diagnostics 22 (10): 1300-1307. October 2020

2019

Combined targeted resequencing of cytosine DNA methylation and mutations of DNA repair genes with potential use for poly(ADP-ribose) polymerase 1 inhibitor sensitivity testing.
Grimm, C. and Fischer, A. and Farrelly, A.M. and Kalachand, R. and Castiglione, R. and Wasserburger, E. and Hussong, M. and Schultheis, Anne M and Altmüller, J. and Thiele, H. and Reinhardt, H.C. and Hauschulz, K. and Hennessy, B.T. and Herwig, R. and Lienhard, M. and Buettner, R. and Schweiger, M.R.
Journal of Molecular Diagnostics 21 (2): 198-213. March 2019

2011

Diagnostic and prognostic value of metastasis inducer S100A4 transcripts in plasma of colon, rectal, and gastric cancer patients.
Stein, U. and Burock, S. and Herrmann, P. and Wendler, I. and Niederstrasser, M. and Wernecke, K.D. and Schlag, P.M.
Journal of Molecular Diagnostics 13 (2): 189-198. March 2011

2003

Association of platelet-derived growth factor receptor alpha mutations with gastric primary site and epithelioid or mixed cell morphology in gastrointestinal stromal tumors.
Wardelmann, E. and Hrychyk, A. and Merkelbach-Bruse, S. and Pauls, K. and Goldstein, J. and Hohenberger, P. and Losen, I. and Manegold, C. and Buettner, R. and Pietsch, T.
Journal of Molecular Diagnostics 6 : 197-204. 1 January 2003

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