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., 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. ORCID: https://orcid.org/0000-0003-4372-1521
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., Sprüssel, A., Linke, R.B., Astrahantseff, K. ORCID: https://orcid.org/0000-0002-7872-1997, Grimaldi, M., Schmelz, K., Toedling, J. ORCID: https://orcid.org/0000-0003-1471-1295, Schulte, J.H., Fischer, M., Messerschmidt, C. ORCID: https://orcid.org/0000-0001-8632-656X, Beule, D. ORCID: https://orcid.org/0000-0002-3284-0632, Keilholz, U., Eggert, A., Deubzer, H.E. ORCID: https://orcid.org/0000-0002-6115-4893 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. ORCID: https://orcid.org/0000-0003-4724-5526, Brunn, A., Tuchscherer, A., Borchmann, P., Schorb, E., Kasenda, B., Altmüller, J. ORCID: https://orcid.org/0000-0003-4372-1521, 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

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. ORCID: https://orcid.org/0000-0002-4676-8870, Fischer, A., Farrelly, A.M., Kalachand, R., Castiglione, R., Wasserburger, E., Hussong, M., Schultheis, Anne M, Altmüller, J. ORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., Reinhardt, H.C., Hauschulz, K., Hennessy, B.T., Herwig, R., Lienhard, M. ORCID: https://orcid.org/0000-0002-2549-3142, 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. ORCID: https://orcid.org/0000-0001-7006-282X, 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

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., 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