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Diagnostic and Research Institute of Human Genetics

SCI/PUBMED listed | all typs of publications | all by year and first author | MUG authors |

** = Publications listed in SCI/SSCI/Pubmed

Full paper/article (Journal)

** Hajiabolhassan, H; Ortner, R Online Regret Bounds for Satisficing in Markov Decision Processes
MATH OPER RES. 2025; Doi: 10.1287/moor.2023.0275
Web of Science FullText FullText_MUG

 

** Kaufmann, L; Beichler, C; Blatterer, J; Janisch, I; Csapó, B; Schreiner, E; Verheyen, S; Geigl, JB; Windpassinger, C The Expression of a Germline Fusion Gene Involving a Protein-Coding and a Long Non-Coding RNA Gene Results in Severe Brain Malformations
GENES-BASEL. 2025; 16(5): 598 Doi: 10.3390/genes16050598 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

** Khan, R; Phely, L; Ehrenfeld, S; Schmitz, T; Veratti, P; Wolfes, J; Shoumariyeh, K; Andrieux, G; Martens, US; Bra, S; Auer, M; Schilling, O; Boerries, M; Speicher, M; Illert, AL; Duyster, J; Miething, C Modeling the t(2;5) Translocation of Anaplastic Large Cell Lymphoma Using CRISPR-Mediated Chromosomal Engineering.
Cancers (Basel). 2025; 17(13): Doi: 10.3390/cancers17132226 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

** Niedermayer, K; Schäffler, H; Vlachos, G; Greco, S; Pfister, K; Volz, B; Ott, L; Neubauer, H; Polzer, B; Koch, A; Riethdorf, S; Fehm, T; Janni, W; Friedl, TWP; Rack, B; Heitzer, E; Schochter, F; Wiesmüller, L Mass cytometric detection of homologous recombination proficiency in circulating tumor cells to predict chemoresistance of metastatic breast cancer patients.
Int J Cancer. 2025; Doi: 10.1002/ijc.35498
Web of Science PubMed FullText FullText_MUG

 

** Pantel, K; Alix-Panabières, C; Hofman, P; Stoecklein, NH; Lu, YJ; Lianidou, E; Giacomini, P; Koch, C; de, Jager, V; Deans, ZC; Fairley, J; Patton, SJ; Toledo, RA; Schuuring, E; Heitzer, E; Hendrix, A; Ricklefs, FL; Thakur, BK; von, Bubnoff, N; Pierga, JY; Gebhardt, C; Andersen, CL; Fijneman, R; Malats, N; Hallermayr, A; Chelala, C; Joosse, SA; Ciliberto, G Fostering the implementation of liquid biopsy in clinical practice: meeting report 2024 of the European Liquid Biopsy Society (ELBS).
J Exp Clin Cancer Res. 2025; 44(1):156 Doi: 10.1186/s13046-025-03398-4 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

** Rousseau, B; Patel, M; Artz, O; Vlachos, G; Patel, S; Hayatt, O; Argilés, G; Foote, MB; Luo, L; Shah, R; Mehta, S; Rangavajhula, K; Stewart, CM; Gerber, D; Bhattacharya, R; Stephens, D; Mieles, D; Randrian, V; Abdelfattah, S; Zhang, L; Membreno-Berganza, N; Lamendola-Essel, MF; Piastra-Facon, F; Vidal, J; Johannet, P; Lu, S; White, JR; Maron, SB; Barlas, A; Weipert, CM; Rosiek, E; Zhang, T; He, B; Monette, S; Qu, R; Fidele, D; Bowker, S; Kahn, A; Vitiello, PP; Germano, G; Bardelli, A; Mandal, R; Ma, X; Chan, TA; Lu, S; Cercek, A; Abdel-Wahab, O; de, Stanchina, E; Segal, NH; Diaz, LA Induction of a mismatch repair deficient genotype by tailored chemical mutagenesis in experimental models of cancer.
Cancer Cell. 2025; Doi: 10.1016/j.ccell.2025.05.010
PubMed FullText FullText_MUG

 

** Santner, V; Höller, V; Ungericht, M; Schwegel, N; Zach, D; Tichy, H; Waltl, G; Belciug, R; Wallner, M; Gollmer, J; Kolesnik, E; Rainer, PP; von, Lewinski, D; Ablasser, K; Rudnik-Schöneborn, S; Pölzl, G; Heitzer, E; Zirlik, A; Verheyen, N Left ventricular global longitudinal strain and diagnostic yield of genetic testing in hypertrophic cardiomyopathy in a multicenter registry analysis.
Sci Rep. 2025; 15(1):22573 Doi: 10.1038/s41598-025-05696-5 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

** Stitz, R; Stoiber, F; Silye, R; Rebhan, E; Dunzinger, M; Pühringer, F; Heitzer, E; Hauser-Kronberger, C Clinical impact of real-time androgen receptor alteration monitoring on metastatic castration-resistant prostate cancer treatment in real-world settings
INT J CANCER. 2025; Doi: 10.1002/ijc.70019
Web of Science PubMed FullText FullText_MUG

 

** Suppan, I; Lundon, D; Garg, PK; Caballero, C; Heitzer, E; Brandl, A Clinical Use of Liquid Biopsy in Metastatic Breast Cancer-An ESSO-EYSAC International Survey
J SURG ONCOL. 2025; Doi: 10.1002/jso.70045
Web of Science PubMed FullText FullText_MUG

 

** Unseld, M; Kühberger, S; Graf, R; Beichler, C; Braun, M; Dandachi, N; Heitzer, E; Prager, GW Circulating tumor DNA (ctDNA) trajectories predict survival in trifluridine/tipiracil-treated metastatic colorectal cancer patients.
Mol Oncol. 2025; Doi: 10.1002/1878-0261.13755 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

Review

** de, Jager, VD; Giacomini, P; Fairley, JA; Toledo, RA; Patton, SJ; Joosse, SA; Koch, C; Deans, ZC; Pantel, K; Heitzer, E; Schuuring, E, , ELBS, ctDNA, Workshop, Group Reporting of molecular test results from cell-free DNA analyses: expert consensus recommendations from the 2023 European Liquid Biopsy Society ctDNA Workshop.
EBioMedicine. 2025; 114:105636 Doi: 10.1016/j.ebiom.2025.105636 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

** Guigal-Stephan, N; Lockhart, B; Moser, T; Heitzer, E A perspective review on the systematic implementation of ctDNA in phase I clinical trial drug development.
J Exp Clin Cancer Res. 2025; 44(1):79 Doi: 10.1186/s13046-025-03328-4 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

** Simons, J; Dekker, A; Govaarts, R; Sarkozy, A; Windpassinger, C; Houwen, S; Voermans, N Signs and symptoms of carriers of non-DMD X-linked neuromuscular diseases: A scoping review.
J Neuromuscul Dis. 2025; 22143602251330441 Doi: 10.1177/22143602251330441
Web of Science PubMed FullText FullText_MUG

 

Case Report

** Kern, D; Windpassinger, C; Schwingenschuh, P Functional Movement Disorder in Familial Ataxia: A Case Report of Monozygotic Twins.
MOV DISORD CLIN PRAC. 2025; Doi: 10.1002/mdc3.70196
Web of Science PubMed FullText FullText_MUG

 

** Peschaut, T; Michelitsch, M; Brandner, M; Kamper, S; Ofner-Ziegenfuss, L; Blatterer, J; Tichy, HA; Posch-Pertl, L An Unusual Retinal Presentation of a Novel COL11A1 Mutation: A Case Report
CASE REP OPHTHALMOL. 2025; 16(1): 62-67. Doi: 10.1159/000542708 (- Case Report) [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

Abstract (Journal)

** Dobri, N; Dandachi, N; Klocker, EV; Suppan, C; Graf, R; Lazzeri, I; Albertini, C; Rinnerthaler, G; Starzer, AM; Bartsch, R; Hasenleithner, SO; Jost, PJ; Heitzer, E; Balic, M Circulating tumor DNA profiling of patients with metastatic luminal HER2-low and HER2-0 breast cancer via next-generation sequencing.
J CLIN ONCOL. 2025; 43(16_SUPPL): e13090-e13090. Doi: 10.1200/JCO.2025.43.16_suppl.e13090
Web of Science FullText FullText_MUG

 

** Leary, CP; Hoermann-Kröpfl, M; Schenk, M; Weiss, G The role of artificial intelligence (AI) in selecting sperm for intracytoplasmic sperm injection (ICSI): a pilot study
HUM REPROD. 2025; 40: deaf097376 Doi: 10.1093/humrep/deaf097.376
Web of Science FullText FullText_MUG

 

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