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

Multiplexed quantification of four neuroblastoma DNA targets in a single droplet digital PCR reaction.
Peitz, C., Sprüssel, A., Linke, R.B., Astrahantseff, K., Grimaldi, M., Schmelz, K., Toedling, J., Schulte, J.H., Fischer, M., Messerschmidt, C., Beule, D., Keilholz, U., Eggert, A., 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., Brunn, A., Tuchscherer, A., Borchmann, P., Schorb, E., Kasenda, B., Altmüller, J., Illerhaus, G., Ruge, M.I., Maarouf, M., Büttner, R., Hansmann, M.L., Hallek, M., Prinz, M., Siebert, R. and Deckert, M.
Journal of Molecular Diagnostics 22 (10): 1300-1307. October 2020

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., Fischer, A., Farrelly, A.M., Kalachand, R., Castiglione, R., Wasserburger, E., Hussong, M., Schultheis, Anne M, Altmüller, J., Thiele, H., Reinhardt, H.C., Hauschulz, K., Hennessy, B.T., Herwig, R., Lienhard, M., Buettner, R. and Schweiger, M.R.
Journal of Molecular Diagnostics 21 (2): 198-213. March 2019

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

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., Hrychyk, A., Merkelbach-Bruse, S., Pauls, K., Goldstein, J., Hohenberger, P., Losen, I., Manegold, C., Buettner, R. and Pietsch, T.
Journal of Molecular Diagnostics 6 : 197-204. 1 January 2003