Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz

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Diagnostik und Forschungsinstitut für Humangenetik

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** = Publikationen gelistet in SCI/SSCI/Pubmed

Originalarbeiten (Zeitschrift)

** Ali, MZ; Blatterer, J; Khan, MA; Schaflinger, E; Petek, E; Ahmad, S; Khan, E; Windpassinger, C Identification of a novel protein truncating mutation p.Asp98* in XPC associated with xeroderma pigmentosum in a consanguineous Pakistani family.
Mol Genet Genomic Med. 2020; e1060-e1060. [OPEN ACCESS]
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** Daga, S; Rosenberger, A; Kashofer, K; Heitzer, E; Quehenberger, F; Halbwedl, I; Graf, R; Krisper, N; Prietl, B; Höfler, G; Reinisch, A; Zebisch, A; Sill, H; Wölfler, A Sensitive and broadly applicable residual disease detection in acute myeloid leukemia using flow cytometry-based leukemic cell enrichment followed by mutational profiling.
Am J Hematol. 2020;
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** Dutta, S; Pregartner, G; Rücker, FG; Heitzer, E; Zebisch, A; Bullinger, L; Berghold, A; Döhner, K; Sill, H Functional Classification of TP53 Mutations in Acute Myeloid Leukemia.
Cancers (Basel). 2020; 12(3): [OPEN ACCESS]
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** Kälsch, AI; Scharnagl, H; Kleber, ME; Windpassinger, C; Sattler, W; Leipe, J; Krämer, BK; März, W; Malle, E Long- and short-term association of low-grade systemic inflammation with cardiovascular mortality in the LURIC study.
Clin Res Cardiol. 2020; 109(3):358-373
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** Karastaneva, A; Nebral, K; Schlagenhauf, A; Baschin, M; Palankar, R; Juch, H; Heitzer, E; Speicher, MR; Höfler, G; Grigorow, I; Urban, C; Benesch, M; Greinacher, A; Haas, OA; Seidel, MG Novel phenotypes observed in patients with ETV6-linked leukaemia/familial thrombocytopenia syndrome and a biallelic ARID5B risk allele as leukaemogenic cofactor.
J Med Genet. 2020; 57(6):427-433
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** Lampignano, R; Neumann, MHD; Weber, S; Kloten, V; Herdean, A; Voss, T; Groelz, D; Babayan, A; Tibbesma, M; Schlumpberger, M; Chemi, F; Rothwell, DG; Wikman, H; Galizzi, J-P; Bergheim, IR; Russnes, H; Mussolin, B; Bonin, S; Voight, C; Musa, H; Pinzani, P; Lianidou, E; Brady, G; Speicher, MR; Pantel, K; Betsou, F, Schuuring, E; Kubista, M; Ammerlaan, W; Sprenger-Haussels, M; Schlange, T; Heitzer, E Multicenter Evaluation of Circulating Cell-Free DNA Extraction and Downstream Analyses for the Development of Standardized (Pre)analytical Work Flows
The Open Clinical Chemistry Journal. 2020; 66(1): 149-160.
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** Smith, CG; Moser, T; Mouliere, F; Field-Rayner, J; Eldridge, M; Riediger, AL; Chandrananda, D; Heider, K; Wan, JCM; Warren, AY; Morris, J; Hudecova, I; Cooper, WN; Mitchell, TJ; Gale, D; Ruiz-Valdepenas, A; Klatte, T; Ursprung, S; Sala, E; Riddick, ACP; Aho, TF; Armitage, JN; Perakis, S; Pichler, M; Seles, M; Wcislo, G; Welsh, SJ; Matakidou, A; Eisen, T; Massie, CE; Rosenfeld, N; Heitzer, E; Stewart, GD Comprehensive characterization of cell-free tumor DNA in plasma and urine of patients with renal tumors.
Genome Med. 2020; 12(1): 23-23. [OPEN ACCESS]
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** Weber, S; Spiegl, B; Perakis, SO; Ulz, CM; Abuja, PM; Kashofer, K; Leest, PV; Azpurua, MA; Tamminga, M; Brudzewsky, D; Rothwell, DG; Mohan, S; Sartori, A; Lampignano, R; Konigshofer, Y; Sprenger-Haussels, M; Wikman, H; Bergheim, IR; Kloten, V; Schuuring, E; Speicher, MR; Heitzer, E Technical Evaluation of Commercial Mutation Analysis Platforms and Reference Materials for Liquid Biopsy Profiling.
Cancers (Basel). 2020; 12(6):
PubMed FullText FullText_MUG


** Wimmer, K; Hulla, W; Zschocke, J; Lax, SF; Webersinke, G; Zelger, B; Uyanik, G; Kain, R; Speicher, M; Hoefler, G Detection of hereditary colon and uterine cancer Consensus of the Austrian Working Group Pathology-Human Genetics to improve the care for Lynch syndrome patients and affected relatives
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** Wimmer, K; Schamschula, E; Wernstedt, A; Traunfellner, P; Amberger, A; Zschocke, J; Kroisel, P; Chen, YJ; Callens, T; Messiaen, L AG-exclusion zone revisited: Lessons to learn from 91 intronic NF1 3 ' splice site mutations outside the canonical AG-dinucleotides
HUM MUTAT. 2020; 41(6): 1145-1156. [OPEN ACCESS]
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** Zhou, Q; Perakis, SO; Ulz, P; Mohan, S; Riedl, JM; Talakic, E; Lax, S; Tötsch, M; Hoefler, G; Bauernhofer, T; Pichler, M; Gerger, A; Geigl, JB; Heitzer, E; Speicher, MR Cell-free DNA analysis reveals POLR1D-mediated resistance to bevacizumab in colorectal cancer.
Genome Med. 2020; 12(1): 20-20. [OPEN ACCESS]
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** Pabst, G; Lind, K; Graf, R; Zebisch, A; Stölzel, F; Döhner, K; Heitzer, E; Reinisch, A; Sill, H TP53 mutated AML subclones exhibit engraftment in a humanized bone marrow ossicle mouse model.
Ann Hematol. 2020; [OPEN ACCESS]
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** Heitzer, E; Auinger, L; Speicher, MR Cell-Free DNA and Apoptosis: How Dead Cells Inform About the Living
TRENDS MOL MED. 2020; 26(5): 519-528.
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** Heitzer, E POINT Circulating Tumor DNA for Modern Cancer Management
CLIN CHEM. 2020; 66(1): 143-145.
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** Ulz, P; Perakis, S; Zhou, Q; Moser, T; Belic, J; Lazzeri, I; Wölfler, A; Zebisch, A; Gerger, A; Pristauz, G; Petru, E; White, B; Roberts, CES; John, JS; Schimek, MG; Geigl, JB; Bauernhofer, T; Sill, H; Bock, C; Heitzer, E; Speicher, MR Publisher Correction: Inference of transcription factor binding from cell-free DNA enables tumor subtype prediction and early detection.
Nat Commun. 2020; 11(1):1965-1965 [OPEN ACCESS]
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Abstracts (Zeitschrift)

** Gocmen, SU; Wagner, K; Gokce, S Cystic Fibrosis Transmembrane Conductance Regulator Gene Variations in Coding and Noncoding Regions in Congenital Bilateral Absence of the Vas Deferens Dependent Infertility
BIOPHYS J. 2020; 118(3): 588A-588A.
Web of Science


** Suppan, C; Zhou, Q; Graf, R; Klocker, V; Terbuch, A; Dandachi, N; Heitzer, E; Balic, M Liquid biopsy-based detection of PIK3Ca mutations in HR positive metastastic breast cancer patients
ANN ONCOL. 2020; 31: S41-S41.
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** Trapp, E; Kolovetsiou-Kreiner, V; Reisinger, J; Bramreiter, V; Speicher, M; Geigl, J; Petru, E; Tamussino, K; Pristauz, G Multiple Gene analysis in Breast and Ovarian Cancer Patients
GEBURTSH FRAUENHEILK. 2020; 80(4): 436-436.
Web of Science


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