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

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Publikationen

Suchbegriffe: NEXT GENERATION SEQUENCING, . Treffer: 59

2023

Kranke, T; Loibner, M; Arzberger, E; Wieczorek, G; Krenz, T; Attig, H; Hofmann-Wellenhof, E; Fischer, B; Eberhard, A; Oberauner-Wappis, L; Ulz, CM; Fried, I; Cerroni, L; Oelmueller, U; Zatloukal, K; Hofmann-Wellenhof, R; Heitzer, E Non-invasive molecular profiling of skin lesions using tape-stripping
SKIN RES TECHNOL. 2023; 29(5): e13322 Doi: 10.1111/srt.13322
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Rassner, M; Waldeck, S; Follo, M; Jilg, S; Philipp, U; Jolic, M; Wehrle, J; Jost, PJ; Peschel, C; Illert, AL; Duyster, J; Scherer, F; von, Bubnoff, N Development of Highly Sensitive Digital Droplet PCR for Detection of cKIT Mutations in Circulating Free DNA That Mediate Resistance to TKI Treatment for Gastrointestinal Stromal Tumor (GIST).
Int J Mol Sci. 2023; 24(6): Doi: 10.3390/ijms24065411 [OPEN ACCESS]
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2022

Hasenleithner, SO; Speicher, MR A clinician's handbook for using ctDNA throughout the patient journey.
Mol Cancer. 2022; 21(1): 81 Doi: 10.1186/s12943-022-01551-7 [OPEN ACCESS]
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Kashofer, K; Regauer, S; Reich, O; Petru, E; Winter, E Driver gene mutations in micro-invasive cervical squamous cancers have no prognostic significance.
Gynecol Oncol. 2022; 165(1):121-128 Doi: 10.1016/j.ygyno.2022.01.020
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Klocker, EV; Balic, M; Steger, G Molecular profiling leading to personalized treatment in breast cancer
MEMO-MAG EUR MED ONC. 2022; Doi: 10.1007/s12254-021-00792-4
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2021

Guelly, C; Abilova, Z; Nuralinov, O; Panzitt, K; Akhmetova, A; Rakhimova, S; Kozhamkulov, U; Kairov, U; Molkenov, A; Seisenova, A; Trajanoski, S; Abildinova Rashbayeva, G; Kaussova, G; Windpassinger, C; Lee, JH; Zhumadilov, Z; Bekbossynova, M; Akilzhanova, A Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genes.
PeerJ. 2021; 9: e10711-e10711. Doi: 10.7717/peerj.10711 [OPEN ACCESS]
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Lohberger, B; Glänzer, D; Eck, N; Kerschbaum-Gruber, S; Mara, E; Deycmar, S; Madl, T; Kashofer, K; Georg, P; Leithner, A; Georg, D Activation of efficient DNA repair mechanisms after photon and proton irradiation of human chondrosarcoma cells.
Sci Rep. 2021; 11(1): 24116 Doi: 10.1038/s41598-021-03529-9 [OPEN ACCESS]
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Meyer, R; Begemann, M; Hübner, CT; Dey, D; Kuechler, A; Elgizouli, M; Schara, U; Ambrozaityte, L; Burnyte, B; Schröder, C; Kenawy, A; Kroisel, P; Demuth, S; Fekete, G; Opladen, T; Elbracht, M; Eggermann, T One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome.
Orphanet J Rare Dis. 2021; 16(1): 42 Doi: 10.1186/s13023-021-01683-x [OPEN ACCESS]
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Stitz, R; Buder, A; Silye, R; Baumgartner, B; Pühringer, F; Filipits, M; Oberndorfer, E; Heitzer, E Validation of a next-generation sequencing assay for the detection of EGFR mutations in cell-free circulating tumor DNA.
EXP MOL PATHOL. 2021; 123: 104685 Doi: 10.1016/j.yexmp.2021.104685
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Ulrich, S; Ladstatter, S; Posch, U; Schlenke, P Identification of the novel HLA-C*07:02:01:115 allele in a volunteer bone marrow donor
HLA. 2021; Doi: 10.1111/tan.14330 [OPEN ACCESS]
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2020

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; 95(10):1148-57 Doi: 10.1002/ajh.25918 [OPEN ACCESS]
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Fakler, F; Aykutlu, U; Brcic, L; Eidenhammer, S; Thueringer, A; Kashofer, K; Kulka, J; Timens, W; Popper, H Atypical goblet cell hyperplasia occurs in CPAM 1, 2, and 3, and is a probable precursor lesion for childhood adenocarcinoma.
Virchows Arch. 2020; 476(6):843-854 Doi: 10.1007/s00428-019-02732-4
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Liegl-Atzwanger, B The role of pathology in sarcoma.
MEMO-MAG EUR MED ONC. 2020; Doi: 10.1007/s12254-020-00574-4 [OPEN ACCESS]
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Matias-Guiu, X; Stanta, G; Carneiro, F; Ryska, A; Hoefler, G; Moch, H; European Society of Pathology (ESP) The leading role of pathology in assessing the somatic molecular alterations of cancer: Position Paper of the European Society of Pathology.
Virchows Arch. 2020; 476(4):491-497 Doi: 10.1007/s00428-020-02757-0 [OPEN ACCESS]
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Strasser, C; Spindelboeck, W; Kashofer, K; Oswald, J; Haid, B Low-dose antibiotic prophylaxis has no significant impact on the stability of the intestinal microbiome in children with urogenital tract malformations under 1 year of age.
J Pediatr Urol. 2020; 16(4):456.e1-456456 Doi: 10.1016/j.jpurol.2020.05.165 [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): 1588 Doi: 10.3390/cancers12061588 [OPEN ACCESS]
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2019

Geissler, K; Jäger, E; Barna, A; Gurbisz, M; Marschon, R; Graf, T; Graf, E; Borjan, B; Jilch, R; Geissler, C; Hoermann, G; Esterbauer, H; Schwarzinger, I; Nösslinger, T; Pfeilstöcker, M; Tüchler, H; Reisner, R; Sliwa, T; Keil, F; Bettelheim, P; Machherndl-Spandl, S; Doleschal, B; Zach, O; Weltermann, A; Heibl, S; Thaler, J; Zebisch, A; Sill, H; Stauder, R; Webersinke, G; Petzer, A; Kusec, R; Ulsperger, E; Schneeweiss, B; Berger, J; Öhler, L; Germing, U; Sperr, WR; Knöbl, P; Jäger, U; Valent, P The Austrian biodatabase for chronic myelomonocytic leukemia (ABCMML) : A representative and useful real-life data source for further biomedical research.
Wien Klin Wochenschr. 2019; 131(17-18):410-418 Doi: 10.1007/s00508-019-1526-1 [OPEN ACCESS]
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Vosberg, S; Greif, PA Clonal evolution of acute myeloid leukemia from diagnosis to relapse.
Genes Chromosomes Cancer. 2019; 58(12): 839-849. Doi: 10.1002/gcc.22806 [OPEN ACCESS]
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2018

Berger, AW; Raedler, K; Langner, C; Ludwig, L; Dikopoulos, N; Becker, KF; Slotta-Huspenina, J; Quante, M; Schwerdel, D; Perkhofer, L; Kleger, A; Zizer, E; Oswald, F; Seufferlein, T; Meining, A Genetic Biopsy for Prediction of Surveillance Intervals after Endoscopic Resection of Colonic Polyps: Results of the GENESIS Study.
United European Gastroenterol J. 2018; 6(2): 290-299. Doi: 10.1177/2050640617723810 [OPEN ACCESS]
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Chen, S; El-Heliebi, A; Schmid, J; Kashofer, K; Czyż, ZT; Polzer, BM; Pantel, K; Kroneis, T; Sedlmayr, P Target Cell Pre-enrichment and Whole Genome Amplification for Single Cell Downstream Characterization.
J Vis Exp. 2018; (135): Doi: 10.3791/56394 [OPEN ACCESS]
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Lehner, S; Ekhlasi-Hundrieser, M; Detering, C; Allerkamp, H; Pfarrer, C; von, Depka, Prondzinski, M A 12.3-kb Duplication Within the VWF Gene in Pigs Affected by Von Willebrand Disease Type 3.
G3 (Bethesda). 2018; 8(2): 577-585. Doi: 10.1534/g3.117.300432 [OPEN ACCESS]
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Sunitsch, S; Gilg, MM; Kashofer, K; Gollowitsch, F; Leithner, A; Liegl-Atzwanger, B Detection of GNAS mutations in intramuscular / cellular myxomas as diagnostic tool in the classification of myxoid soft tissue tumors.
Diagn Pathol. 2018; 13(1): 52-52. Doi: 10.1186/s13000-018-0734-8 [OPEN ACCESS]
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Terbuch, A; Lopez, J Next Generation Cancer Vaccines-Make It Personal!
Vaccines (Basel). 2018; 6(3): Doi: 10.3390/vaccines6030052 [OPEN ACCESS]
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Tesch, VK; IJspeert, H; Raicht, A; Rueda, D; Dominguez-Pinilla, N; Allende, LM; Colas, C; Rosenbaum, T; Ilencikova, D; Baris, HN; Nathrath, MHM; Suerink, M; Januszkiewicz-Lewandowska, D; Ragab, I; Azizi, AA; Wenzel, SS; Zschocke, J; Schwinger, W; Kloor, M; Blattmann, C; Brugieres, L; van der Burg, M; Wimmer, K; Seidel, MG No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency.
Front Immunol. 2018; 9: 1506-1506. Doi: 10.3389/fimmu.2018.01506 [OPEN ACCESS]
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Zhong, Q; Wagner, U; Kurt, H; Molinari, F; Cathomas, G; Komminoth, P; Barman-Aksözen, J; Schneider-Yin, X; Rey, JP; Vassella, E; Rogel, U; Diebold, J; McKee, T; Jochum, W; Kashofer, K; Hofman, P; Zischka, M; Moch, H; Rechsteiner, M; Wild, PJ Multi-laboratory proficiency testing of clinical cancer genomic profiling by next-generation sequencing.
Pathol Res Pract. 2018; 214(7):957-963 Doi: 10.1016/j.prp.2018.05.020
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2017

Beham-Schmid, C Aggressive lymphoma 2016: revision of the WHO classification.
Memo. 2017; 10(4):248-254 Doi: 10.1007/s12254-017-0367-8 [OPEN ACCESS]
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Chen, S; El-Heliebi, A; Tauber, G; Langsenlehner, T; Pötscher, M; Kashofer, K; Czyż, ZT; Polzer, B; Riethdorf, S; Kuske, A; Leitinger, G; Pantel, K; Kroneis, T; Sedlmayr, P Catch and Release: rare cell analysis from a functionalised medical wire.
Sci Rep. 2017; 7(2):43424-43424 Doi: 10.1038/srep43424 [OPEN ACCESS]
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Debette, S; Saba, Y; Vojinovic, D; Jian, X; Adams, H; Chauhan, G; Sargurupremraj, M; Kaffashian, S; Ding, J; Bis, JC; Nyquist, P; Mather, K; Van Duijn, C; Launer, LJ; Ikram, MA; Schmidt, H; Longstreth, WT; Fornage, M; Seshadri, S; 19th Workshop of the International Stroke Genetics Consortium, April 28-29, 2016, Boston, Massachusetts, USA: 2016.001 MRI-defined cerebrovascular genomics-The CHARGE consortium.
Neurol Genet. 2017; 3(1 Suppl 1):S2-S11. Doi: 10.1212/NXG.0000000000000100 [Oral Communication] [OPEN ACCESS]
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Diomede, F; Thangavelu, SR; Merciaro, I; D'Orazio, M; Bramanti, P; Mazzon, E; Trubiani, O Porphyromonas gingivalis lipopolysaccharide stimulation in human periodontal ligament stem cells: role of epigenetic modifications to the inflammation.
Eur J Histochem. 2017; 61(3):2826-2826 Doi: 10.4081/ejh.2017.2826 [OPEN ACCESS]
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Klymiuk, I; Bilgilier, C; Stadlmann, A; Thannesberger, J; Kastner, MT; Högenauer, C; Püspök, A; Biowski-Frotz, S; Schrutka-Kölbl, C; Thallinger, GG; Steininger, C The Human Gastric Microbiome Is Predicated upon Infection with Helicobacter pylori.
Front Microbiol. 2017; 8(12):2508-2508 Doi: 10.3389/fmicb.2017.02508 [OPEN ACCESS]
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Koskinen, K; Rettberg, P; Pukall, R; Auerbach, A; Wink, L; Barczyk, S; Perras, A; Mahnert, A; Margheritis, D; Kminek, G; Moissl-Eichinger, C Microbial biodiversity assessment of the European Space Agency's ExoMars 2016 mission.
Microbiome. 2017; 5(1):143 Doi: 10.1186/s40168-017-0358-3 [OPEN ACCESS]
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Kroneis, T; Jonasson, E; Andersson, D; Dolatabadi, S; Ståhlberg, A Global preamplification simplifies targeted mRNA quantification.
Sci Rep. 2017; 7(2):45219-45219 Doi: 10.1038/srep45219 [OPEN ACCESS]
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März, W; Grammer, TB; Delgado, G; Kleber, ME [Congenital disorders of lipoprotein metabolism].
Herz. 2017; 42(5):449-458 Doi: 10.1007/s00059-017-4578-x [OPEN ACCESS]
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Mogul, R; Vaishampayan, P; Bashir, M; McKay, CP; Schubert, K; Bornaccorsi, R; Gomez, E; Tharayil, S; Payton, G; Capra, J; Andaya, J; Bacon, L; Bargoma, E; Black, D; Boos, K; Brant, M; Chabot, M; Chau, D; Cisneros, J; Chu, G; Curnutt, J; DiMizio, J; Engelbrecht, C; Gott, C; Harnoto, R; Hovanesian, R; Johnson, S; Lavergne, B; Martinez, G; Mans, P; Morales, E; Oei, A; Peplow, G; Piaget, R; Ponce, N; Renteria, E; Rodriguez, V; Rodriguez, J; Santander, M; Sarmiento, K; Scheppelmann, A; Schroter, G; Sexton, D; Stephenson, J; Symer, K; Russo-Tait, T; Weigel, B; Wilhelm, MB Microbial Community and Biochemical Dynamics of Biological Soil Crusts across a Gradient of Surface Coverage in the Central Mojave Desert.
Front Microbiol. 2017; 8(4):1974-1974 Doi: 10.3389/fmicb.2017.01974 [OPEN ACCESS]
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Santigli, E; Koller, M; Klug, B Oral Biofilm Sampling for Microbiome Analysis in Healthy Children.
J Vis Exp. 2017; 8(130): Doi: 10.3791/56320 [OPEN ACCESS]
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Schwendner, P; Mahnert, A; Koskinen, K; Moissl-Eichinger, C; Barczyk, S; Wirth, R; Berg, G; Rettberg, P Preparing for the crewed Mars journey: microbiota dynamics in the confined Mars500 habitat during simulated Mars flight and landing.
Microbiome. 2017; 5(1):129 Doi: 10.1186/s40168-017-0345-8 [OPEN ACCESS]
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2016

Czapiewski, P; Kunc, M; Haybaeck, J Genetic and molecular alterations in olfactory neuroblastoma: implications for pathogenesis, prognosis and treatment.
Oncotarget. 2016; 7(32):52584-52596 Doi: 10.18632/oncotarget.9683 [OPEN ACCESS]
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Grammatikopoulos, T; Sambrotta, M; Strautnieks, S; Foskett, P; Knisely, AS; Wagner, B; Deheragoda, M; Starling, C; Mieli-Vergani, G; Smith, J; University of Washington Center for Mendelian Genomics; Bull, L; Thompson, RJ Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis.
J Hepatol. 2016; 65(6):1179-1187 Doi: 10.1016/j.jhep.2016.07.017 [OPEN ACCESS]
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Krause, R; Halwachs, B; Thallinger, GG; Klymiuk, I; Gorkiewicz, G; Hoenigl, M; Prattes, J; Valentin, T; Heidrich, K; Buzina, W; Salzer, HJ; Rabensteiner, J; Prüller, F; Raggam, RB; Meinitzer, A; Moissl-Eichinger, C; Högenauer, C; Quehenberger, F; Kashofer, K; Zollner-Schwetz, I Characterisation of Candida within the Mycobiome/Microbiome of the Lower Respiratory Tract of ICU Patients.
PLoS One. 2016; 11(5):e0155033-e0155033 Doi: 10.1371/journal.pone.0155033 [OPEN ACCESS]
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Mora, M; Perras, A; Alekhova, TA; Wink, L; Krause, R; Aleksandrova, A; Novozhilova, T; Moissl-Eichinger, C Resilient microorganisms in dust samples of the International Space Station-survival of the adaptation specialists.
Microbiome. 2016; 4(1):65-65 Doi: 10.1186/s40168-016-0217-7 [OPEN ACCESS]
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Santigli, E; Trajanoski, S; Eberhard, K; Klug, B Sampling Modification Effects in the Subgingival Microbiome Profile of Healthy Children.
Front Microbiol. 2016; 7(3):2142-2142 Doi: 10.3389/fmicb.2016.02142 [OPEN ACCESS]
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Speicher, MR; Gerger, A; Hoefler, G Liquid biopsies. A multidisciplinary challenge for human geneticists, oncologists, and pathologists
MED GENET-BERLIN. 2016; 28(2): 245-250. Doi: 10.1007/s11825-016-0090-6 [OPEN ACCESS]
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van de Nes, J; Gessi, M; Sucker, A; Möller, I; Stiller, M; Horn, S; Scholz, SL; Pischler, C; Stadtler, N; Schilling, B; Zimmer, L; Hillen, U; Scolyer, RA; Buckland, ME; Lauriola, L; Pietsch, T; Waha, A; Schadendorf, D; Murali, R; Griewank, KG Targeted next generation sequencing reveals unique mutation profile of primary melanocytic tumors of the central nervous system.
J NEURO-ONCOL. 2016; 127(3): 435-444. Doi: 10.1007/s11060-015-2052-2 [OPEN ACCESS]
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2015

Neumann, M; Vosberg, S; Schlee, C; Heesch, S; Schwartz, S; Gökbuget, N; Hoelzer, D; Graf, A; Krebs, S; Bartram, I; Blum, H; Brüggemann, M; Hecht, J; Bohlander, SK; Greif, PA; Baldus, CD Mutational spectrum of adult T-ALL.
Oncotarget. 2015; 6(5): 2754-2766. Doi: 10.18632/oncotarget.2218 [OPEN ACCESS]
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Paolini, A; Baldassarre, A; Del Gaudio, I; Masotti, A Structural Features of the ATP-Binding Cassette (ABC) Transporter ABCA3.
Int J Mol Sci. 2015; 16(8):19631-19644 Doi: 10.3390/ijms160819631 [OPEN ACCESS]
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Till, H; Castellani, C; Moissl-Eichinger, C; Gorkiewicz, G; Singer, G Disruptions of the intestinal microbiome in necrotizing enterocolitis, short bowel syndrome, and Hirschsprung's associated enterocolitis.
Front Microbiol. 2015; 6(7):1154-1154 Doi: 10.3389/fmicb.2015.01154 [OPEN ACCESS]
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2014

Gabriel, C; Fürst, D; Faé, I; Wenda, S; Zollikofer, C; Mytilineos, J; Fischer, GF HLA typing by next-generation sequencing - getting closer to reality.
Tissue Antigens. 2014; 83(2): 65-75. Doi: 10.1111/tan.12298
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Haack, TB; Gorza, M; Danhauser, K; Mayr, JA; Haberberger, B; Wieland, T; Kremer, L; Strecker, V; Graf, E; Memari, Y; Ahting, U; Kopajtich, R; Wortmann, SB; Rodenburg, RJ; Kotzaeridou, U; Hoffmann, GF; Sperl, W; Wittig, I; Wilichowski, E; Schottmann, G; Schuelke, M; Plecko, B; Stephani, U; Strom, TM; Meitinger, T; Prokisch, H; Freisinger, P Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.
Mol Genet Metab. 2014; 111(3): 342-352. Doi: 10.1016/j.ymgme.2013.12.010
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Kastner, R; Zopf, A; Preuner, S; Pröll, J; Niklas, N; Foskett, P; Valent, P; Lion, T; Gabriel, C Rapid identification of compound mutations in patients with Philadelphia-positive leukaemias by long-range next generation sequencing.
Eur J Cancer. 2014; 50(4): 793-800. Doi: 10.1016/j.ejca.2013.11.030 [OPEN ACCESS]
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Preuner, S; Danzer, M; Pröll, J; Pötschger, U; Lawitschka, A; Gabriel, C; Lion, T High-quality DNA from fingernails for genetic analysis.
J Mol Diagn. 2014; 16(4): 459-466. Doi: 10.1016/j.jmoldx.2014.02.004 [OPEN ACCESS]
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