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Speicher Michael |

Publications

** = Publications listed in SCI/SSCI/Pubmed

2024

Full paper/article (Journal)

** Lazzeri, I; Spiegl, BG; Hasenleithner, SO; Speicher, MR; Kircher, M LBFextract: Unveiling transcription factor dynamics from liquid biopsy data
COMPUT STRUCT BIOTEC. 2024; 23: 3163-3174. Doi: 10.1016/j.csbj.2024.08.007 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

** Röner, S; Burkard, L; Speicher, MR; Kircher, M cfDNA UniFlow: a unified preprocessing pipeline for cell-free DNA data from liquid biopsies
GIGASCIENCE. 2024; 13: giae102 Doi: 10.1093/gigascience/giae102 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

2023

Full paper/article (Journal)

** Hallermayr, A; Kessler, T; Steinke-Lange, V; Heitzer, E; Holinski-Feder, E; Speicher, M The utility of liquid biopsy in clinical genetic diagnosis of cancer and monogenic mosaic disorders
MED GENET-BERLIN. 2023; 35(4): 275-284. Doi: 10.1515/medgen-2023-2066
Web of Science FullText FullText_MUG

** Pencik, J; Philippe, C; Schlederer, M; Atas, E; Pecoraro, M; Grund-Gröchke, S; Li, W; Tracz, A; Heidegger, I; Lagger, S; Trachtová, K; Oberhuber, M; Heitzer, E; Aksoy, O; Neubauer, HA; Wingelhofer, B; Orlova, A; Witzeneder, N; Dillinger, T; Redl, E; Greiner, G; D'Andrea, D; Östman, JR; Tangermann, S; Hermanova, I; Schäfer, G; Sternberg, F; Pohl, EE; Sternberg, C; Varady, A; Horvath, J; Stoiber, D; Malcolm, TI; Turner, SD; Parkes, EE; Hantusch, B; Egger, G; Rose-John, S; Poli, V; Jain, S; Armstrong, CWD; Hoermann, G; Goffin, V; Aberger, F; Moriggl, R; Carracedo, A; McKinney, C; Kennedy, RD; Klocker, H; Speicher, MR; Tang, DG; Moazzami, AA; Heery, DM; Hacker, M; Kenner, L STAT3/LKB1 controls metastatic prostate cancer by regulating mTORC1/CREB pathway
MOL CANCER. 2023; 22(1): 133 Doi: 10.1186/s12943-023-01825-8 [OPEN ACCESS]
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** Spiegl, B; Kapidzic, F; Röner, S; Kircher, M; Speicher, MR GCparagon: evaluating and correcting GC biases in cell-free DNA at the fragment level.
NAR GENOM BIOINFORM. 2023; 5(4): lqad102 Doi: 10.1093/nargab/lqad102 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

Abstract (Journal)

** Carvalhal, S; Bader, I; Rooimans, MA; Oostra, AB; Balk, JA; Feichtinger, RG; Beichler, C; Speicher, MR; van Hagen, JM; Waisfisz, Q; van Haelst, M; Bruijn, M; Mayr, JA; Wolthuis, RMF; Oliveira, RA; de Lange, J BASIC RESEARCHBIALLELIC BUB1 MUTATIONS CAUSE MICROCEPHALY, DEVELOPMENTAL DELAY AND VARIABLE EFFECTS ON COHESION AND CHROMOSOME SEGREGATION
MEDICINE. 2023; 102(13):-26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH); NOV 17-19, 2022; Coimbra, PORTUGAL.
Web of Science

** Riedl, JM; Steinlechner, SM; Moik, F; Heitzer, E; Jahn, S; Hasenleithner, S; Doleschal, B; Weiss, L; Seeber, A; Rumpold, H; Winder, T; Greil, R; Jost, PJ; Hoefler, G; Speicher, M; Gerger, A SOUND: A phase II trial evaluating the efficacy of molecular profiling of circulating ± tumor tissue DNA for salvagetherapy matching in patients with advanced and refractory carcinoma
ANN ONCOL. 2023; 34: S1186-S1186.-Annual Meeting of the European-Society-for-Medical-Oncology (ESMO); OCT 20-24, 2023; Barcelona, SPAIN. Doi: 10.1016/j.annonc.2023.09.1349 [Poster]
Web of Science FullText FullText_MUG

2022

Full paper/article (Journal)

** Carvalhal, S; Bader, I; Rooimans, MA; Oostra, AB; Balk, JA; Feichtinger, RG; Beichler, C; Speicher, MR; van, Hagen, JM; Waisfisz, Q; van, Haelst, M; Bruijn, M; Tavares, A; Mayr, JA; Wolthuis, RMF; Oliveira, RA; de, Lange, J Biallelic BUB1 mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation.
Sci Adv. 2022; 8(3): eabk0114 Doi: 10.1126/sciadv.abk0114 [OPEN ACCESS]
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** Verheyen, S; Blatterer, J; Speicher, MR; Bhavani, GS; Boons, GJ; Ilse, MB; Andrae, D; Sproß, J; Vaz, FM; Kircher, SG; Posch-Pertl, L; Baumgartner, D; Lübke, T; Shah, H; Al, Kaissi, A; Girisha, KM; Plecko, B Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency.
J Med Genet. 2022; 59(10):957-964 Doi: 10.1136/jmedgenet-2021-108061 [OPEN ACCESS]
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** Vogt, G; Verheyen, S; Schwartzmann, S; Ehmke, N; Potratz, C; Schwerin-Nagel, A; Plecko, B; Holtgrewe, M; Seelow, D; Blatterer, J; Speicher, MR; Kornak, U; Horn, D; Mundlos, S; Fischer-Zirnsak, B; Boschann, F Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive.
J Med Genet. 2022; 59(7):662-668 Doi: 10.1136/jmedgenet-2021-107843 [OPEN ACCESS]
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Short report/Letter

** Hasenleithner, SO; Speicher, MR How to detect cancer early using cell-free DNA.
Cancer Cell. 2022; 40(12): 1464-1466. Doi: 10.1016/j.ccell.2022.11.009
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Review

** 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]
Web of Science PubMed FullText FullText_MUG

Abstract (Journal)

** Rieger, M; Moutton, S; Verheyen, S; Speicher, M; Leheup, B; Bonnet, C; Steindl, K; Boneda, B; Rauch, A; Krumbiegel, M; Reis, A; Huffmeier, U Microdeletions at 19p13.11 in four individuals with neurodevelopmental delay
EUR J HUM GENET. 2022; 30(SUPPL 1): 245-246. [Poster]
Web of Science

2021

Full paper/article (Journal)

** Riedl, JM; Hasenleithner, SO; Pregartner, G; Scheipner, L; Posch, F; Groller, K; Kashofer, K; Jahn, SW; Bauernhofer, T; Pichler, M; Stöger, H; Berghold, A; Hoefler, G; Speicher, MR; Heitzer, E; Gerger, A Profiling of circulating tumor DNA and tumor tissue for treatment selection in patients with advanced and refractory carcinoma: a prospective, two-stage phase II Individualized Cancer Treatment trial.
Ther Adv Med Oncol. 2021; 13:1758835920987658 Doi: 10.1177/1758835920987658 [OPEN ACCESS]
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** Unseld, M; Belic, J; Pierer, K; Zhou, Q; Moser, T; Bauer, R; Piringer, G; Gerger, A; Siebenhüner, A; Speicher, M; Heitzer, E; Prager, GW A higher ctDNA fraction decreases survival in regorafenib-treated metastatic colorectal cancer patients. Results from the regorafenib's liquid biopsy translational biomarker phase II pilot study.
Int J Cancer. 2021; 148(6):1452-1461 Doi: 10.1002/ijc.33303 [OPEN ACCESS]
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** Weber, S; van der Leest, P; Donker, HC; Schlange, T; Timens, W; Tamminga, M; Hasenleithner, SO; Graf, R; Moser, T; Spiegl, B; Yaspo, ML; Terstappen, LWMM; Sidorenkov, G; Hiltermann, TJN; Speicher, MR; Schuuring, E; Heitzer, E; Groen, HJM Dynamic Changes of Circulating Tumor DNA Predict Clinical Outcome in Patients With Advanced Non-Small-Cell Lung Cancer Treated With Immune Checkpoint Inhibitors
JCO PRECIS ONCOL. 2021; 5: 1540-1553. Doi: 10.1200/PO.21.00182
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Review

** Leypold, NA; Speicher, MR Review Evolutionary conservation in noncoding genomic regions
TRENDS GENET. 2021; 37(10): 903-918. Doi: 10.1016/j.tig.2021.06.007
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2020

Full paper/article (Journal)

** Bourrier, C; Pierga, JY; Xuereb, L; Salaun, H; Proudhon, C; Speicher, MR; Belic, J; Heitzer, E; Lockhart, BP; Guigal-Stephan, N Shallow Whole-Genome Sequencing from Plasma Identifies FGFR1 Amplified Breast Cancers and Predicts Overall Survival.
Cancers (Basel). 2020; 12(6): Doi: 10.3390/cancers12061481 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

** 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 Doi: 10.1136/jmedgenet-2019-106339
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** Koch, C; Kuske, A; Joosse, SA; Yigit, G; Sflomos, G; Thaler, S; Smit, DJ; Werner, S; Borgmann, K; Gärtner, S; Mossahebi Mohammadi, P; Battista, L; Cayrefourcq, L; Altmüller, J; Salinas-Riester, G; Raithatha, K; Zibat, A; Goy, Y; Ott, L; Bartkowiak, K; Tan, TZ; Zhou, Q; Speicher, MR; Müller, V; Gorges, TM; Jücker, M; Thiery, JP; Brisken, C; Riethdorf, S; Alix-Panabières, C; Pantel, K Characterization of circulating breast cancer cells with tumorigenic and metastatic capacity.
EMBO Mol Med. 2020; 12(9):e11908-e11908 Doi: 10.15252/emmm.201911908 [OPEN ACCESS]
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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. Doi: 10.1373/clinchem.2019.306837 [OPEN ACCESS]
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** Moser, T; Waldispuehl-Geigl, J; Belic, J; Weber, S; Zhou, Q; Hasenleithner, SO; Graf, R; Terzic, JA; Posch, F; Sill, H; Lax, S; Kashofer, K; Hoefler, G; Schoellnast, H; Heitzer, E; Geigl, JB; Bauernhofer, T; Speicher, MR On-treatment measurements of circulating tumor DNA during FOLFOX therapy in patients with colorectal cancer.
NPJ Precis Oncol. 2020; 4(1):30 Doi: 10.1038/s41698-020-00134-3 [OPEN ACCESS]
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** Perakis, SO; Weber, S; Zhou, Q; Graf, R; Hojas, S; Riedl, JM; Gerger, A; Dandachi, N; Balic, M; Hoefler, G; Schuuring, E; Groen, HJM; Geigl, JB; Heitzer, E; Speicher, MR Comparison of three commercial decision support platforms for matching of next-generation sequencing results with therapies in patients with cancer.
ESMO Open. 2020; 5(5):e000872 Doi: 10.1136/esmoopen-2020-000872 [OPEN ACCESS]
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** Verheyen, S; Speicher, MR; Ramler, B; Plecko, B Childhood-onset epileptic encephalopathy due to FGF12 exon 1-4 tandem duplication.
Neurol Genet. 2020; 6(5): e494-e494. Doi: 10.1212/NXG.0000000000000494 [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]
Web of Science 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.
ONKOLOGE. 2020; Doi: 10.1007/s00761-020-00773-y [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 Doi: 10.1186/s13073-020-0719-6 [OPEN ACCESS]
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Review

** 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 Doi: 10.1016/j.molmed.2020.01.012
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Correction

** 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. Doi: 10.1038/s41467-020-15799-4 [OPEN ACCESS]
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Abstract (Journal)

** Gerger, A; Riedl, JM; Perakis, S; Pregartner, G; Scheipner, L; Posch, F; Groller, K; Kashofer, K; Jahn, SW; Bauernhofer, T; Pichler, M; Stoger, H; Berghold, A; Hofler, G; Speicher, M; Heitzer, E Profiling of circulating tumour DNA for treatment selection in patients with advanced and refractory carcinoma: A prospective, two-stage phase II individualized cancer treatment trial.
ANN ONCOL. 2020; 31: S1095-S1096.-ESMO Virtual Congress; SEP 19-OCT 18, 2020; ELECTR NETWORK. Doi: 10.1016/j.annonc.2020.08.1331 [Onlinepräsentation] [OPEN ACCESS]
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** Moser, T; Waldispuehl-Geigl, J; Belic, J; Perakis, S; Weber, S; Zhou, Q; Sill, H; Lax, S; Kashofer, K; Hoefler, G; Schoellnast, H; Bauernhofer, T; Heitzer, E; Geigl, JB; Speicher, MR Early circulating tumor DNA dynamics as a real-time predictor of FOLFOX efficacy in advanced colorectal cancer patients
CANCER RES. 2020; 80(16): Doi: 10.1158/1538-7445.AM2020-4295 [Poster]
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** Perakis, SO; Weber, S; Graf, R; Zhou, Q; Riedl, JM; Dandachi, N; Balic, M; Gerger, A; Schuuring, E; Groen, HJ; Geigl, JB; Speicher, MR; Heitzer, E Identification of actionable targets in advanced cancer patients from circulating tumor DNA using clinical decision support platforms
CANCER RES. 2020; 80(16):-AACR Annual Meeting; JUN 22-24, 2020; ELECTR NETWORK. Doi: 10.1158/1538-7445.AM2020-1315 [Poster]
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** Riedl, J; Perakis, S; Pregartner, G; Scheipner, L; Posch, F; Groller, K; Kashofer, K; Jahn, SW; Bauernhofer, T; Pichler, M; Stoger, H; Berghold, A; Hofler, G; Speicher, M; Heitzer, E; Gerger, A Individualized cancer treatment based on molecular profiling of circulating tumor DNA in patients with advanced and refractory carcinoma: a prospective phase II trial.
ONCOL RES TREAT. 2020; 43(SUPPL 4):249-249.-DGHO Jahrestagung; 09.10. -11.10.2020; Basel (virtueller Kongress). [Oral Communication]
Web of Science

** 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. Kongressabstracts zur Wissenschaftlichen Tagung der Arbeitsgemeinschaft für gynäkologische Onkologie (AGO) der Österreichischen Gesellschaft für Gynäkologie und Geburtshilfe (OEGGG). 2020; 80(4):436-436.-Tagung der Arbeitsgemeinschaft für gynäkologische Onkologie (AGO) der Österreichischen Gesellschaft für Gynäkologie und Geburtshilfe (OEGGG); MAI 8-11, 2020; Salzburg, AUSTRIA. [Poster]
Web of Science

** Trapp, EK; Speicher, M; Geigl, JB; Kolovetsiou-Kreiner, V; Reisinger, J; Haas, J; Petru, E; Tamussino, K; Pristauz, G Multigene panel analysis in breast and ovarian cancer.
CANCER RES. 2020; 80(4):-San Antonio Breast Cancer Symposium; DEC 10-14, 2019; San Antonio, TX. Doi: 10.1158/1538-7445.SABCS19-P5-03-09 [Poster]
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2019

Full paper/article (Journal)

** de Wit, S; Rossi, E; Weber, S; Tamminga, M; Manicone, M; Swennenhuis, JF; Groothuis-Oudshoorn, CGM; Vidotto, R; Facchinetti, A; Zeune, LL; Schuuring, E; Zamarchi, R; Hiltermann, TJN; Speicher, MR; Heitzer, E; Terstappen, LWMM; Groen, HJM Single tube liquid biopsy for advanced non-small cell lung cancer.
Int J Cancer. 2019; 144(12): 3127-3137. Doi: 10.1002/ijc.32056 [OPEN ACCESS]
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** Kalmbach, A; Schröder, C; Klein-Hitpass, L; Nordström, K; Ulz, P; Heitzer, E; Speicher, MR; Rahmann, S; Wieczorek, D; Horsthemke, B; Bramswig, NC Genome-Wide Analysis of the Nucleosome Landscape in Individuals with Coffin-Siris Syndrome.
Cytogenet Genome Res. 2019; 159(1): 1-11. Doi: 10.1159/000503266 [OPEN ACCESS]
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** Riethdorf, S; Hildebrandt, L; Heinzerling, L; Heitzer, E; Fischer, N; Bergmann, S; Mauermann, O; Waldispühl-Geigl, J; Coith, C; Schön, G; Peine, S; Schuler, G; Speicher, MR; Moll, I; Pantel, K Detection and Characterization of Circulating Tumor Cells in Patients with Merkel Cell Carcinoma.
CLIN CHEM. 2019; 65(3): 462-472. Doi: 10.1373/clinchem.2018.297028
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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 Inference of transcription factor binding from cell-free DNA enables tumor subtype prediction and early detection.
Nat Commun. 2019; 10(1): 4666-4666. Doi: 10.1038/s41467-019-12714-4 [OPEN ACCESS]
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Review

** Heitzer, E; Haque, IS; Roberts, CES; Speicher, MR Current and future perspectives of liquid biopsies in genomics-driven oncology.
NAT REV GENET. 2019; 20(2): 71-88. Doi: 10.1038/s41576-018-0071-5
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Editorial

** Siebert, R; Speicher, MR Prenatal diagnostics
MED GENET-BERLIN. 2019; 31(3): 263-265. Doi: 10.1007/s11825-019-00269-0 [OPEN ACCESS]
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Abstract (Journal)

** Pantel, K; Terstappen, LW; Manaresi, N; Groen, HJ; Schuuring, EM; Heitzer, E; Speicher, M; Naume, B; Kyte, JA; Schlange, T Standardization and clinical implementation of liquid biopsy assays - IMI's CANCER-ID
CANCER RES. 2019; 79(13):-Annual Meeting of the American-Association-for-Cancer-Research (AACR); MAR 29-APR 03, 2019; Atlanta, GA. Doi: 10.1158/1538-7445.SABCS18-3190 [Poster]
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** Perakis, SO; Ulz, P; Riedl, JM; Scheipner, L; Kashofer, K; Hoefler, G; Geigl, JB; Speicher, MR; Heitzer, E; Gerger, A Molecular-biological tumor profiling for drug treatment selection in patients with advanced and refractory carcinoma: A prospective, two-stage Phase II individualized cancer treatment study
CANCER RES. 2019; 79(13):-Annual Meeting of the American-Association-for-Cancer-Research (AACR); MAR 29-APR 03, 2019; Atlanta, GA. Doi: 10.1158/1538-7445.AM2019-CT130 [Poster]
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** Speicher, MR Liquid biopsies in patients with cancer
MOL CYTOGENET. 2019; 12: -12 th European Cytogenomics Conference 2019; [Oral Communication] [OPEN ACCESS]
Web of Science

2018

Full paper/article (Journal)

** Belic, J; Graf, R; Bauernhofer, T; Cherkas, Y; Ulz, P; Waldispuehl-Geigl, J; Perakis, S; Gormley, M; Patel, J; Li, W; Geigl, JB; Smirnov, D; Heitzer, E; Gross, M; Speicher, MR Genomic alterations in plasma DNA from patients with metastasized prostate cancer receiving abiraterone or enzalutamide.
Int J Cancer. 2018; 143(5): 1236-1248. Doi: 10.1002/ijc.31397 [OPEN ACCESS]
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** Walpole, S; Pritchard, AL; Cebulla, CM; Pilarski, R; Stautberg, M; Davidorf, FH; de la Fouchardière, A; Cabaret, O; Golmard, L; Stoppa-Lyonnet, D; Garfield, E; Njauw, CN; Cheung, M; Turunen, JA; Repo, P; Järvinen, RS; van Doorn, R; Jager, MJ; Luyten, GPM; Marinkovic, M; Chau, C; Potrony, M; Höiom, V; Helgadottir, H; Pastorino, L; Bruno, W; Andreotti, V; Dalmasso, B; Ciccarese, G; Queirolo, P; Mastracci, L; Wadt, K; Kiilgaard, JF; Speicher, MR; van Poppelen, N; Kilic, E; Al-Jamal, RT; Dianzani, I; Betti, M; Bergmann, C; Santagata, S; Dahiya, S; Taibjee, S; Burke, J; Poplawski, N; O'Shea, SJ; Newton-Bishop, J; Adlard, J; Adams, DJ; Lane, AM; Kim, I; Klebe, S; Racher, H; Harbour, JW; Nickerson, ML; Murali, R; Palmer, JM; Howlie, M; Symmons, J; Hamilton, H; Warrier, S; Glasson, W; Johansson, P; Robles-Espinoza, CD; Ossio, R; de Klein, A; Puig, S; Ghiorzo, P; Nielsen, M; Kivelä, TT; Tsao, H; Testa, JR; Gerami, P; Stern, MH; Paillerets, BB; Abdel-Rahman, MH; Hayward, NK Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide.
JNCI-J NATL CANCER I. 2018; 110(12): 1328-1341. Doi: 10.1093/jnci/djy171 [OPEN ACCESS]
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Review

** Heitzer, E; Speicher, MR One size does not fit all: Size-based plasma DNA diagnostics.
SCI TRANSL MED. 2018; 10(466): eaav3873 Doi: 10.1126/scitranslmed.aav3873
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Editorial

** Heitzer, E; Speicher, MR Digital Circulating Tumor Cell Analyses for Prostate Cancer Precision Oncology.
Cancer Discov. 2018; 8(3): 269-271. Doi: 10.1158/2159-8290.CD-18-0075 [OPEN ACCESS]
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Abstract (Journal)

** Belic, J; Graf, R; Bauernhofer, T; Cherkas, Y; Peter, U; Waldispuehl-Geigl, J; Perakis, S; Gormley, M; Patel, J; Li, WM; Geigl, JB; Smirnov, D; Heitzer, E; Gross, M; Speicher, MR Analysis of circulating tumor DNA reveals genomic alterations in metastatic prostate cancer patients treated with abiraterone acetate plus prednisone or enzalutamide
CANCER RES. 2018; 78(13):-Annual Meeting of the American-Association-for-Cancer-Research (AACR); APR 14-18, 2018; Chicago, IL. Doi: 10.1158/1538-7445.AM2018-2959 [Oral Communication]
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** Ehrenfeld, S; Khan, R; Redhaber, D; Shoumariyeh, K; Veratti, P; Auer, M; Speicher, M; Duyster, J; Miething, C A new model for ALK plus large-cell anaplastic lymphoma (ALCL) based on CRISPR/Cas-mediated chromosomal engineering
ONCOL RES TREAT. 2018; 41: 272-273. [Poster]
Web of Science

** Tamminga, M; de Wit, S; Swennenhuis, JF; Heitzer, E; Speicher, M; Hiltermann, TJN; Schuuring, EM; Terstappen, LWM; Groen, HJ Circulating tumor cells measured in the pulmonary vein and radial artery during surgery of non-small cell lung cancer
CANCER RES. 2018; 78(13): Doi: 10.1158/1538-7445.AM2018-5594
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2017

Full paper/article (Journal)

** Speicher, MR Searching for cancer vulnerabilities amid genetic chaos.
Genome Biol. 2017; 18(1):147-147 Doi: 10.1186/s13059-017-1283-2 [OPEN ACCESS]
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Short report/Letter

** Moser, T; Ulz, P; Zhou, Q; Perakis, S; Geigl, JB; Speicher, MR; Heitzer, E Single-Stranded DNA Library Preparation Does Not Preferentially Enrich Circulating Tumor DNA.
Clin Chem. 2017; 63(10):1656-1659 Doi: 10.1373/clinchem.2017.277988 [OPEN ACCESS]
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Review

** Heitzer, E; Perakis, S; Geigl, JB; Speicher, MR The potential of liquid biopsies for the early detection of cancer.
NPJ Precis Oncol. 2017; 1(1):36-36 Doi: 10.1038/s41698-017-0039-5 [OPEN ACCESS]
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** Perakis, S; Speicher, MR Emerging concepts in liquid biopsies.
BMC Med. 2017; 15(1):75-75 Doi: 10.1186/s12916-017-0840-6 [OPEN ACCESS]
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** Ulz, P; Heitzer, E; Geigl, JB; Speicher, MR Patient monitoring through liquid biopsies using circulating tumor DNA.
Int J Cancer. 2017; 141(5):887-896 Doi: 10.1002/ijc.30759 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

Abstract (Journal)

** Graier, T; Auer, M; Heitzer, E; Ulz, P; Perakis, S; Speicher, MR; Geigl, JB Rapid single-cell copy-number aberration analysis using high- throughput sequencing.
EUR J CANCER. 2017; 72: S24-S24.-ECCO European Cancer Congress; JAN 27-30, 2017; Amsterdam, NETHERLANDS. Doi: 10.1016/S0959-8049(17)30159-4 [Poster]
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2016

Full paper/article (Journal)

** Al-Zoughbi, W; Pichler, M; Gorkiewicz, G; Guertl-Lackner, B; Haybaeck, J; Jahn, SW; Lackner, C; Liegl-Atzwanger, B; Popper, H; Schauer, S; Nusshold, E; Kindt, AS; Trajanoski, Z; Speicher, MR; Haemmerle, G; Zimmermann, R; Zechner, R; Vesely, PW; Hoefler, G Loss of adipose triglyceride lipase is associated with human cancer and induces mouse pulmonary neoplasia.
Oncotarget. 2016; 7(23):33832-33840 Doi: 10.18632/oncotarget.9418 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

** Belic, J; Koch, M; Ulz, P; Auer, M; Gerhalter, T; Mohan, S; Fischereder, K; Petru, E; Bauernhofer, T; Geigl, JB; Speicher, MR; Heitzer, E mFast-SeqS as a Monitoring and Pre-screening Tool for Tumor-Specific Aneuploidy in Plasma DNA.
Adv Exp Med Biol. 2016; 924:147-155 Doi: 10.1007/978-3-319-42044-8_28
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** Bettermann, K; Mehta, AK; Hofer, EM; Wohlrab, C; Golob-Schwarzl, N; Svendova, V; Schimek, MG; Stumptner, C; Thüringer, A; Speicher, MR; Lackner, C; Zatloukal, K; Denk, H; Haybaeck, J Keratin 18-deficiency results in steatohepatitis and liver tumors in old mice: A model of steatohepatitis-associated liver carcinogenesis.
Oncotarget. 2016; 7(45):73309-73322 Doi: 10.18632/oncotarget.12325 [OPEN ACCESS]
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** Mlecnik, B; Bindea, G; Angell, HK; Maby, P; Angelova, M; Tougeron, D; Church, SE; Lafontaine, L; Fischer, M; Fredriksen, T; Sasso, M; Bilocq, AM; Kirilovsky, A; Obenauf, AC; Hamieh, M; Berger, A; Bruneval, P; Tuech, JJ; Sabourin, JC; Le Pessot, F; Mauillon, J; Rafii, A; Laurent-Puig, P; Speicher, MR; Trajanoski, Z; Michel, P; Sesboüe, R; Frebourg, T; Pagès, F; Valge-Archer, V; Latouche, JB; Galon, J Integrative Analyses of Colorectal Cancer Show Immunoscore Is a Stronger Predictor of Patient Survival Than Microsatellite Instability.
Immunity. 2016; 44(3):698-711 Doi: 10.1016/j.immuni.2016.02.025 [OPEN ACCESS]
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** Mlecnik, B; Bindea, G; Kirilovsky, A; Angell, HK; Obenauf, AC; Tosolini, M; Church, SE; Maby, P; Vasaturo, A; Angelova, M; Fredriksen, T; Mauger, S; Waldner, M; Berger, A; Speicher, MR; Pagès, F; Valge-Archer, V; Galon, J The tumor microenvironment and Immunoscore are critical determinants of dissemination to distant metastasis.
Sci Transl Med. 2016; 8(327):327ra26-327ra26 Doi: 10.1126/scitranslmed.aad6352
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** Ulz, P; Belic, J; Graf, R; Auer, M; Lafer, I; Fischereder, K; Webersinke, G; Pummer, K; Augustin, H; Pichler, M; Hoefler, G; Bauernhofer, T; Geigl, JB; Heitzer, E; Speicher, MR Whole-genome plasma sequencing reveals focal amplifications as a driving force in metastatic prostate cancer.
Nat Commun. 2016; 7(15):12008-12008 Doi: 10.1038/ncomms12008 [OPEN ACCESS]
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** Ulz, P; Thallinger, GG; Auer, M; Graf, R; Kashofer, K; Jahn, SW; Abete, L; Pristauz, G; Petru, E; Geigl, JB; Heitzer, E; Speicher, MR Inferring expressed genes by whole-genome sequencing of plasma DNA.
Nat Genet. 2016; 48(10):1273-1278 Doi: 10.1038/ng.3648
Web of Science PubMed FullText FullText_MUG

Short report/Letter

** Ulz, P; Heitzer, E; Speicher, MR Co-occurrence of MYC amplification and TP53 mutations in human cancer.
Nat Genet. 2016; 48(2): 104-106. Doi: 10.1038/ng.3468
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Review

** Heitzer, E; Ulz, P; Geigl, JB; Speicher, MR Non-invasive detection of genome-wide somatic copy number alterations by liquid biopsies.
Mol Oncol. 2016; 10(3):494-502 Doi: 10.1016/j.molonc.2015.12.004 [OPEN ACCESS]
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** Pantel, K; Speicher, MR The biology of circulating tumor cells.
Oncogene. 2016; 35(10):1216-1224 Doi: 10.1038/onc.2015.192
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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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** Ulz, P; Geigl, JB; Speicher, MR; Heitzer, E Latest technological developments in the analysis of circulating tumor DNA
MED GENET-BERLIN. 2016; 28(2): 234-244. Doi: 10.1007/s11825-016-0089-z [OPEN ACCESS]
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Abstract (Journal)

** Belic, J; Heitzer, E; Ulz, P; Auer, M; Fischereder, K; Bauernhofer, T; Geigl, JB; Speicher, MR Analysis of ctDNA using the mFastSeqS and plasma-Seq methods for screening and therapy monitoring in prostate cancer patients
CLIN CANCER RES. 2016; 22: -Meeting of the American-Association-for-Cancer-Research (AACR) Precision Medicine Series - Integrating Clinical Genomics and Cancer Therapy; JUN 13-16, 2015; Salt Lake, UT. Doi: 10.1158/1557-3265.PMSCLINGEN15-PR05 [Oral Communication]
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** Schwach, G; Wizsy, NGT; Tam-Amersdorfer, C; Meier-Allard, N; Siddiqui, ZG; Hoeger, H; Haas, OA; Speicher, M; Niederle, B; Pfragner, R Medullary Thyroid Carcinoma Cell Lines - An Update
NEUROENDOCRINOLOGY. 2016; 103: 13-13. [Poster]
Web of Science

2015

Full paper/article (Journal)

** Belic, J; Koch, M; Ulz, P; Auer, M; Gerhalter, T; Mohan, S; Fischereder, K; Petru, E; Bauernhofer, T; Geigl, JB; Speicher, MR; Heitzer, E Rapid Identification of Plasma DNA Samples with Increased ctDNA Levels by a Modified FAST-SeqS Approach.
Clin Chem. 2015; 61(6):838-849 Doi: 10.1373/clinchem.2014.234286 [OPEN ACCESS]
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** Meena, JK; Cerutti, A; Beichler, C; Morita, Y; Bruhn, C; Kumar, M; Kraus, JM; Speicher, MR; Wang, ZQ; Kestler, HA; d'Adda di Fagagna, F; Günes, C; Rudolph, KL Telomerase abrogates aneuploidy-induced telomere replication stress, senescence and cell depletion.
EMBO J. 2015; 34(10):1371-1384 Doi: 10.15252/embj.201490070 [OPEN ACCESS]
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** Murali, R; Chandramohan, R; Möller, I; Scholz, SL; Berger, M; Huberman, K; Viale, A; Pirun, M; Socci, ND; Bouvier, N; Bauer, S; Artl, M; Schilling, B; Schimming, T; Sucker, A; Schwindenhammer, B; Grabellus, F; Speicher, MR; Schaller, J; Hillen, U; Schadendorf, D; Mentzel, T; Cheng, DT; Wiesner, T; Griewank, KG Targeted massively parallel sequencing of angiosarcomas reveals frequent activation of the mitogen activated protein kinase pathway.
Oncotarget. 2015; 6(34):36041-36052 Doi: 10.18632/oncotarget.5936 [OPEN ACCESS]
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** Schmid, M; Klaritsch, P; Arzt, W; Burkhardt, T; Duba, HC; Häusler, M; Hafner, E; Lang, U; Pertl, B; Speicher, M; Steiner, H; Tercanli, S; Merz, E; Heling, KS; Eiben, B Cell-Free DNA Testing for Fetal Chromosomal Anomalies in clinical practice: Austrian-German-Swiss Recommendations for non-invasive prenatal tests (NIPT).
Ultraschall Med. 2015; 36(5):507-510 Doi: 10.1055/s-0035-1553804 [OPEN ACCESS]
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Short report/Letter

** Schulz, E; Kashofer, K; Heitzer, E; Mhatre, KN; Speicher, MR; Hoefler, G; Sill, H Preexisting TP53 mutation in therapy-related acute myeloid leukemia.
Ann Hematol. 2015; 94(3):527-529 Doi: 10.1007/s00277-014-2191-0 (- Case Report) [OPEN ACCESS]
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Abstract (Journal)

** Heitzer, E; Ulz, P; Auer, M; Belic, J; Sumitra, M; Lax, S; Hoefler, G; Augustin, H; Edgar, P; Bauernhofer, T; Geigl, J; Speicher, M Clinical utility of circulating tumor DNA in human cancers: A report of more than 300 plama-Seqs
EUR J CANCER. 2015; 51: S33-S33.-European Cancer Congress; Sep 25-29, 2015; Vienna, AUSTRIA. Doi: 10.1016/S0959-8049(16)30108-3 [Poster]
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** Pfragner, R; Schwach, G; Hoeger, H; Tabrizi-Wizsy, NG; Tam-Amersdorfer, C; Leitinger, G; Bock, E; Zeitlhofer, P; Haas, OA; Beichler, C; Speicher, MR; Rinner, B; Niederle, B; Strobl, H A Novel Human Cell Line from Familial Medullary Thyroid Carcinoma
NEUROENDOCRINOLOGY. 2015; 102(1-2):86-86.-12th Annual ENETS Conference for the Diagnosis and Treatment of Neuroendocrine Tumor Disease; MAR 11-13, 2015; Barcelona, SPAIN. [Poster]
Web of Science

** Speicher, MR; Heitzer, E; Ulz, P; Geigl, JB; Monitoring tumor evolution by whole-genome plasma sequencing
CANCER RES. 2015; 75: -106th Annual Meeting of the American-Association-for-Cancer-Research (AACR); APR 18-22, 2015; Philadelphia, PA. Doi: 10.1158/1538-7445.AM2015-SY37-02 [Oral Communication]
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2014

Full paper/article (Journal)

** Bernkopf, M; Webersinke, G; Tongsook, C; Koyani, CN; Rafiq, MA; Ayaz, M; Müller, D; Enzinger, C; Aslam, M; Naeem, F; Schmidt, K; Gruber, K; Speicher, MR; Malle, E; Macheroux, P; Ayub, M; Vincent, JB; Windpassinger, C; Duba, HC Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability.
Hum Mol Genet. 2014; 23(15):4015-4023 Doi: 10.1093/hmg/ddu115 [OPEN ACCESS]
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** Fried, I; Artl, M; Cota, C; Müller, H; Bartolo, E; Boi, S; Chiarelli, C; Vale, E; Schmuth, M; Wiesner, T; Speicher, MR; Cerroni, L Clinicopathologic and molecular features in cutaneous extranodal natural killer-/T-cell lymphoma, nasal type, with aggressive and indolent course.
J Am Acad Dermatol. 2014; 70(4):716-723 Doi: 10.1016/j.jaad.2013.11.028
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** Heidary, M; Auer, M; Ulz, P; Heitzer, E; Petru, E; Gasch, C; Riethdorf, S; Mauermann, O; Lafer, I; Pristauz, G; Lax, S; Pantel, K; Geigl, JB; Speicher, MR The dynamic range of circulating tumor DNA in metastatic breast cancer.
Breast Cancer Res. 2014; 16(4):421-421 Doi: 10.1186/s13058-014-0421-y [OPEN ACCESS]
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** Khan, MA; Rupp, VM; Orpinell, M; Hussain, MS; Altmüller, J; Steinmetz, MO; Enzinger, C; Thiele, H; Höhne, W; Nürnberg, G; Baig, SM; Ansar, M; Nürnberg, P; Vincent, JB; Speicher, MR; Gönczy, P; Windpassinger, C A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.
Hum Mol Genet. 2014; 23(22):5940-5949 Doi: 10.1093/hmg/ddu318 [OPEN ACCESS]
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** Miething, C; Scuoppo, C; Bosbach, B; Appelmann, I; Nakitandwe, J; Ma, J; Wu, G; Lintault, L; Auer, M; Premsrirut, PK; Teruya-Feldstein, J; Hicks, J; Benveniste, H; Speicher, MR; Downing, JR; Lowe, SW PTEN action in leukaemia dictated by the tissue microenvironment.
Nature. 2014; 510(7505):402-406 Doi: 10.1038/nature13239 [OPEN ACCESS]
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** Mlecnik, B; Bindea, G; Angell, HK; Sasso, MS; Obenauf, AC; Fredriksen, T; Lafontaine, L; Bilocq, AM; Kirilovsky, A; Tosolini, M; Waldner, M; Berger, A; Fridman, WH; Rafii, A; Valge-Archer, V; Pagès, F; Speicher, MR; Galon, J Functional network pipeline reveals genetic determinants associated with in situ lymphocyte proliferation and survival of cancer patients.
Sci Transl Med. 2014; 6(228):228ra37-228ra37 Doi: 10.1126/scitranslmed.3007240 [OPEN ACCESS]
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** Mohan, S; Heitzer, E; Ulz, P; Lafer, I; Lax, S; Auer, M; Pichler, M; Gerger, A; Eisner, F; Hoefler, G; Bauernhofer, T; Geigl, JB; Speicher, MR Changes in colorectal carcinoma genomes under anti-EGFR therapy identified by whole-genome plasma DNA sequencing.
PLoS Genet. 2014; 10(3):e1004271-e1004271 Doi: 10.1371/journal.pgen.1004271 [OPEN ACCESS]
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** Müller, C; Holtschmidt, J; Auer, M; Heitzer, E; Lamszus, K; Schulte, A; Matschke, J; Langer-Freitag, S; Gasch, C; Stoupiec, M; Mauermann, O; Peine, S; Glatzel, M; Speicher, MR; Geigl, JB; Westphal, M; Pantel, K; Riethdorf, S Hematogenous dissemination of glioblastoma multiforme.
Sci Transl Med. 2014; 6(247):247ra101-247ra101 Doi: 10.1126/scitranslmed.3009095 [OPEN ACCESS]
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** Pabinger, S; Dander, A; Fischer, M; Snajder, R; Sperk, M; Efremova, M; Krabichler, B; Speicher, MR; Zschocke, J; Trajanoski, Z A survey of tools for variant analysis of next-generation genome sequencing data.
Brief Bioinform. 2014; 15(2):256-278 Doi: 10.1093/bib/bbs086 [OPEN ACCESS]
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** Schulz, E; Klampfl, P; Holzapfel, S; Janecke, AR; Ulz, P; Renner, W; Kashofer, K; Nojima, S; Leitner, A; Zebisch, A; Wölfler, A; Hofer, S; Gerger, A; Lax, S; Beham-Schmid, C; Steinke, V; Heitzer, E; Geigl, JB; Windpassinger, C; Hoefler, G; Speicher, MR; Boland, CR; Kumanogoh, A; Sill, H Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X.
Nat Commun. 2014; 5(10):5191-5191 Doi: 10.1038/ncomms6191 [OPEN ACCESS]
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Abstract (Journal)

** Auer, M; Heitzer, E; Ulz, P; Pristauz, G; Petru, E; Jahn, S; Speicher, MR; Geigl, JB; Whole-genome sequencing of plasma DNA reveals frequently occurring copy number changes in patients with metastatic breast cancer.
EUR J CANCER. 2014; 50: S153-S153.-EACR; München. Doi: 10.1016/S0959-8049(14)50562-X [Oral Communication]
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** Heitzer, E; Mohan, S; Ulz, P; Lafer, I; Auer, M; Lax, S; Hoefler, G; Bauernhofer, T; Geigl, JB; Speicher, MR; Changes in colorectal carcinoma genomes under anti-EGFR therapy identified by whole-genome plasma DNA sequencing.
EUR J CANCER. 2014; 50: S96-S96.-EACR 2014; München. Doi: 10.1016/S0959-8049(14)50357-7 [Poster]
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** Riethdorf, S; Westphal, M; Mueller, C; Holtschmidt, J; Schulte, A; Matschke, J; Auer, M; Speicher, M; Lamszus, K; Pantel, K CIRCULATING TUMOR CELLS IN GLIOBLASTOMA
NEURO-ONCOLOGY. 2014; 16: Doi: 10.1093/neuonc/nou239.25
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** Schulz, E; Klampfl, P; Holzapfel, S; Janecke, AR; Ulz, P; Renner, W; Kashofer, K; Najima, S; Leitner, A; Zebisch, A; Wölfler, A; Hofer, S; Gerger, A; Lax, S; Beham-Schmid, C; Steinke, V; Geigl, JB; Höfler, G; Speicher, MR; Boland, CR; Kumanogoh, A; Sill, H Germline variants in the semaphorin SEMA4A confer susceptibility to familial colorectal cancer type X
Oncol Res Treat. 2014; 37(S5):105-105.-Annual Meeting of the German, Austrian and Swiss Associations of Hematology and Medical Oncology; OCT 10-14, 2014; Hamburg, GERMANY. (ISBN: 978-3-318-02811-9 ) [Oral Communication]
Web of Science

** Seidel, MG; Hirschmugl, T; Schwinger, W; Gamez-Diaz, L; Serwas, N; Deutschmann, A; Gorkiewicz, G; Zenz, W; Windpassinger, C; Speicher, M; Grimbacher, B; Urban, C; Boztug, K Long-Term Continuous Remission After Allogeneic Hematopoietic Stem Cell Transplantation in ALPS/CVID Overlap Syndrome Due to Lipopolysaccharide Responsive Beige-Like Anchor Protein (LRBA) Deficiency
J CLIN IMMUNOL. 2014; 34: S226-S227.-16th Biennial Meeting of the European-Society-for-Immunodeficiencies; OCT 29-NOV 01, 2014; Prague, CZECH REPUBLIC. [Oral Communication]
Web of Science

** Smolle, E; Flicker, K; Moinfar, F; Speicher, M; Haybaeck, J Genomic characterization of endometrial stromal sarcomas by array CGH
VIRCHOWS ARCH. 2014; 465: S317-S317. [Poster]
Web of Science

Comment

** Speicher, MR; Pantel, K Tumor signatures in the blood.
Nat Biotechnol. 2014; 32(5): 441-443. Doi: 10.1038/nbt.2897
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2013

Full paper/article (Journal)

** Bindea, G; Mlecnik, B; Tosolini, M; Kirilovsky, A; Waldner, M; Obenauf, AC; Angell, H; Fredriksen, T; Lafontaine, L; Berger, A; Bruneval, P; Fridman, WH; Becker, C; Pagès, F; Speicher, MR; Trajanoski, Z; Galon, J Spatiotemporal dynamics of intratumoral immune cells reveal the immune landscape in human cancer.
Immunity. 2013; 39(4):782-795 Doi: 10.1016/j.immuni.2013.10.003 [OPEN ACCESS]
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** Gordon, CT; Vuillot, A; Marlin, S; Gerkes, E; Henderson, A; AlKindy, A; Holder-Espinasse, M; Park, SS; Omarjee, A; Sanchis-Borja, M; Bdira, EB; Oufadem, M; Sikkema-Raddatz, B; Stewart, A; Palmer, R; McGowan, R; Petit, F; Delobel, B; Speicher, MR; Aurora, P; Kilner, D; Pellerin, P; Simon, M; Bonnefont, JP; Tobias, ES; García-Miñaúr, S; Bitner-Glindzicz, M; Lindholm, P; Meijer, BA; Abadie, V; Denoyelle, F; Vazquez, MP; Rotky-Fast, C; Couloigner, V; Pierrot, S; Manach, Y; Breton, S; Hendriks, YM; Munnich, A; Jakobsen, L; Kroisel, P; Lin, A; Kaban, LB; Basel-Vanagaite, L; Wilson, L; Cunningham, ML; Lyonnet, S; Amiel, J Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.
J Med Genet. 2013; 50(3):174-186 Doi: 10.1136/jmedgenet-2012-101331
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** Griewank, KG; Westekemper, H; Murali, R; Mach, M; Schilling, B; Wiesner, T; Schimming, T; Livingstone, E; Sucker, A; Grabellus, F; Metz, C; Süsskind, D; Hillen, U; Speicher, MR; Woodman, SE; Steuhl, KP; Schadendorf, D Conjunctival melanomas harbor BRAF and NRAS mutations and copy number changes similar to cutaneous and mucosal melanomas.
Clin Cancer Res. 2013; 19(12):3143-3152 Doi: 10.1158/1078-0432.CCR-13-0163 [OPEN ACCESS]
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** Heitzer, E; Auer, M; Gasch, C; Pichler, M; Ulz, P; Hoffmann, EM; Lax, S; Waldispuehl-Geigl, J; Mauermann, O; Lackner, C; Höfler, G; Eisner, F; Sill, H; Samonigg, H; Pantel, K; Riethdorf, S; Bauernhofer, T; Geigl, JB; Speicher, MR Complex tumor genomes inferred from single circulating tumor cells by array-CGH and next-generation sequencing.
Cancer Res. 2013; 73(10):2965-2975 Doi: 10.1158/0008-5472.CAN-12-4140 [OPEN ACCESS]
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** Heitzer, E; Auer, M; Hoffmann, EM; Pichler, M; Gasch, C; Ulz, P; Lax, S; Waldispuehl-Geigl, J; Mauermann, O; Mohan, S; Pristauz, G; Lackner, C; Höfler, G; Eisner, F; Petru, E; Sill, H; Samonigg, H; Pantel, K; Riethdorf, S; Bauernhofer, T; Geigl, JB; Speicher, MR Establishment of tumor-specific copy number alterations from plasma DNA of patients with cancer.
Int J Cancer. 2013; 133(2):346-356 Doi: 10.1002/ijc.28030 [OPEN ACCESS]
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** Heitzer, E; Lax, S; Lafer, I; Müller, SM; Pristauz, G; Ulz, P; Jahn, S; Högenauer, C; Petru, E; Speicher, MR; Geigl, JB Multiplex genetic cancer testing identifies pathogenic mutations in TP53 and CDH1 in a patient with bilateral breast and endometrial adenocarcinoma.
BMC Med Genet. 2013; 14(1):129-129 Doi: 10.1186/1471-2350-14-129 (- Case Report) [OPEN ACCESS]
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** Heitzer, E; Ulz, P; Belic, J; Gutschi, S; Quehenberger, F; Fischereder, K; Benezeder, T; Auer, M; Pischler, C; Mannweiler, S; Pichler, M; Eisner, F; Haeusler, M; Riethdorf, S; Pantel, K; Samonigg, H; Hoefler, G; Augustin, H; Geigl, JB; Speicher, MR Tumor-associated copy number changes in the circulation of patients with prostate cancer identified through whole-genome sequencing.
Genome Med. 2013; 5(4):30-30 Doi: 10.1186/gm434 [OPEN ACCESS]
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** Speicher, MR Single-cell analysis: toward the clinic.
Genome Med. 2013; 5(8):74-74 Doi: 10.1186/gm478 [OPEN ACCESS]
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Short report/Letter

** Orendi, K; Emberger, W; Speicher, MR; Hoefler, G; Sill, H Molecular Cytogenetics and Multiplex Reverse-Transcriptase Polymerase Chain Reaction for Risk Stratification in Acute Myeloid Leukemia.
J Clin Oncol. 2013; 31(18):2360-2361 Doi: 10.1200/JCO.2013.48.8189 [OPEN ACCESS]
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Review

** Heitzer, E; Auer, M; Ulz, P; Geigl, JB; Speicher, MR Circulating tumor cells and DNA as liquid biopsies.
Genome Med. 2013; 5(8):73-73 Doi: 10.1186/gm477 [OPEN ACCESS]
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** Orendi, K; Uhrig, S; Mach, M; Tschepper, P; Speicher, MR Complete and pure trisomy 18p due to a complex chromosomal rearrangement in a male adult with mild intellectual disability.
Am J Med Genet A. 2013; 161A(7):1806-1812 Doi: 10.1002/ajmg.a.35986 (- Case Report)
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Editorial

** Auer, M; Heitzer, E; Ulz, P; Geigl, JB; Speicher, MR Single circulating tumor cell sequencing for monitoring.
Oncotarget. 2013; 4(6):812-813 Doi: 10.18632/oncotarget.1026 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

Abstract (Journal)

** Auer, M; Heitzer, E; Ulz, P; Pristauz, G; Petru, E; Jahn, S; Lafer, I; Pantel, K; Speicher, MR; Geigl, JB Complex tumor genomes inferred from plasma DNA of patients with metastatic breast cancer by whole-genome sequencing
EUR J CANCER. 2013; 49: S399-S399.-17th ECCO / 38th ESMO / 32nd ESTRO European Cancer Congress on Reinforcing Multidisciplinarity; SEP 27-OCT 01, 2013; Amsterdam, NETHERLANDS. [Oral Communication]
Web of Science

** Bettermann, K; Mehta, AK; Lederer, E; Ernst, C; Kessler, SM; Chen, X; Hoshida, Y; Bardeesy, N; Fuchs, BC; Tanabe, KK; Müller, H; Svendova, V; Schimek, MG; Mach, M; Speicher, MR; Mahajan, V; Stumptner, C; Thueringer, A; Stojakovic, T; Longerich, T; Schirmacher, P; Magin, TM; Strnad, P; Fuchs, CD; Trauner, M; Spilka, R; Kiemer, AK; Teufel, A; Maass, T; Moriggl, R; Campbell, JS; Thorgeirsson, SS; Stauffer, J; Karin, M; Llovet, JM; Zatloukal, K; Lackner, C; Haybäck, J Steatohepatitis-associated Hepatocellular Carcinoma: Evidence of a Keratinopathy.
HEPATOLOGY. 2013; 58(S1):543A-543A.-64th Annual Meeting of the American Association for the Study of Liver Diseases (AASLD); NOV 1-5, 2013; Washington, DC, USA. [Poster]
Web of Science

** Griewank, KG; Westekemper, H; Schilling, B; Mach, M; Murali, R; Wiesner, T; Schimming, T; Grabellus, F; Metz, C; Sucker, A; Hillen, U; Speicher, M; Woodman, S; Steuhl, K; Schadendorf, D; Oncogene and copy number analysis of a larger cohort of conjunctival melanoma.
EXP DERMATOL. 2013; 22(3):E43-E43.-40th Annual Meeting of the Association-of-Dermatological-Research; MAR 14-16, 2013; Dessau, GERMANY. [Oral Communication]
Web of Science

** Heitzer, E; Ulz, P; Belic, J; Gutschi, S; Quehenberger, F; Auer, M; Augustin, H; Hoefler, G; Geigl, JB; Speicher, MR Tumor associated copy number changes identified by whole-genome sequencing in the circulation of patients with prostate cancer
EUR J CANCER. 2013; 49: S98-S98.-17th ECCO / 38th ESMO / 32nd ESTRO European Cancer Congress on Reinforcing Multidisciplinarity; SEP 27-OCT 01, 2013; Amsterdam, NETHERLANDS. [Oral Communication]
Web of Science

2012

Full paper/article (Journal)

** Binder, JS; Weidemann, F; Schoser, B; Niemann, M; Machann, W; Beer, M; Plank, G; Schmidt, A; Bisping, E; Poparic, I; Lafer, I; Stojakovic, T; Quasthoff, S; Vincent, JB; Rienmueller, R; Speicher, MR; Berghold, A; Pieske, B; Windpassinger, C Spongious hypertrophic cardiomyopathy in patients with mutations in the four-and-a-half LIM domain 1 gene.
Circ Cardiovasc Genet. 2012; 5(5):490-502 Doi: 10.1161/CIRCGENETICS.111.962332 [OPEN ACCESS]
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** Flicker, K; Ulz, P; Höger, H; Zeitlhofer, P; Haas, OA; Behmel, A; Buchinger, W; Scheuba, C; Niederle, B; Pfragner, R; Speicher, MR High-resolution analysis of alterations in medullary thyroid carcinoma genomes.
Int J Cancer. 2012; 131(2):E66-E73 Doi: 10.1002/ijc.26494 [OPEN ACCESS]
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** Katz, SF; Lechel, A; Obenauf, AC; Begus-Nahrmann, Y; Kraus, JM; Hoffmann, EM; Duda, J; Eshraghi, P; Hartmann, D; Liss, B; Schirmacher, P; Kestler, HA; Speicher, MR; Rudolph, KL Disruption of Trp53 in livers of mice induces formation of carcinomas with bilineal differentiation.
Gastroenterology. 2012; 142(5):1229-1239 Doi: 10.1053/j.gastro.2012.02.009
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** Mathiesen, RR; Fjelldal, R; Liestl, K; Due, EU; Geigl, JB; Riethdorf, S; Borgen, E; Rye, IH; Schneider, IJ; Obenauf, AC; Mauermann, O; Nilsen, G; Christian Lingjaerde, O; Brresen-Dale, AL; Pantel, K; Speicher, MR; Naume, B; Baumbusch, LO High-resolution analyses of copy number changes in disseminated tumor cells of patients with breast cancer.
Int J Cancer. 2012; 131(4):E405-E415 Doi: 10.1002/ijc.26444 [OPEN ACCESS]
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** Schulz, E; Valentin, A; Ulz, P; Beham-Schmid, C; Lind, K; Rupp, V; Lackner, H; Wölfler, A; Zebisch, A; Olipitz, W; Geigl, J; Berghold, A; Speicher, MR; Sill, H Germline mutations in the DNA damage response genes BRCA1, BRCA2, BARD1 and TP53 in patients with therapy related myeloid neoplasms.
J Med Genet. 2012; 49(7):422-428 Doi: 10.1136/jmedgenet-2011-100674
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** Sperl, D; Benesch, M; Urban, C; Lackner, H; Sovinz, P; Speicher, MR; Uhrig, S; Schwarzbraun, T; Schwinger, W; zur Stadt, U; Beutel, K; Janka, G; Scarpatetti, M; Seidel, MG Fatal EBV infection and variable clinical manifestations in an XLP-1 pedigree - rapid diagnosis of primary immunodeficiencies may save lives.
Klin Padiatr. 2012; 224(6):386-389 Doi: 10.1055/s-0032-1323836 (- Case Report)
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** Wiesner, T; Fried, I; Ulz, P; Stacher, E; Popper, H; Murali, R; Kutzner, H; Lax, S; Smolle-Jüttner, F; Geigl, JB; Speicher, MR Toward an improved definition of the tumor spectrum associated with BAP1 germline mutations.
J Clin Oncol. 2012; 30(32):e337-e340 Doi: 10.1200/JCO.2011.41.2965 (- Case Report) [OPEN ACCESS]
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Abstract (Journal)

** Schulz, E; Valentin, A; Ulz, P; Beham-Schmid, C; Lind, K; Rupp, V; Lackner, H; Wolfler, A; Zebisch, A; Olipitz, W; Geigl, JB; Berghold, A; Speicher, MR; Sill, H Germ-line mutations in cancer predisposing genes BRCA1, BRCA2, BARD1 and TP53 in patients with therapy-related myeloid neoplasms.
ONKOLOGIE. Onkologie. 2012; 35: 117-117.-Annual Meeting of the German, Austrian and Swiss Associations of Hematology and Medical Oncology; OCT 19-23, 2012; Stuttgart, GERMANY. [Poster]
Web of Science

** Seidel, M; Schwinger, W; Lackner, H; Deutschmann, A; Gorkiewicz, G; Speicher, MR; Boztug, K; Urban, EC Familial multiorgan-autoimmunity syndrome with cytopenia, liver-, and islet cell autoantibodies - a novel inherited immune dysregulation syndrome?
IMMUNOLOGY. 2012; 137: 567-567. [Poster]
Web of Science

** Wiesner, T; Obenauf, AC; Murali, R; Fried, I; Griewank, KG; Ulz, P; Windpassinger, C; Wackernagel, W; Loy, S; Wolf, I; Viale, A; Lash, AE; Pirun, M; Socci, ND; Rütten, A; Palmedo, G; Abramson, D; Offit, K; Ott, A; Becker, JC; Cerroni, L; Kutzner, H, Bastian, BC; Speicher, MR Germline mutations in BAP1 predispose to melanocytic tumors.
Experimental Dermatology. 2012; 21(3):e22--39th Annual Meeting of the Arbeitsgemeinschaft Dermatologische Forschung (ADF); March 01-03, 2012; Marburg, Germany. [Poster]
Web of Science

2011

Full paper/article (Journal)

** Aleksic, K; Lackner, C; Geigl, JB; Schwarz, M; Auer, M; Ulz, P; Fischer, M; Trajanoski, Z; Otte, M; Speicher, MR Evolution of genomic instability in diethylnitrosamine-induced hepatocarcinogenesis in mice.
Hepatology. 2011; 53(3):895-904 Doi: 10.1002/hep.24133 [OPEN ACCESS]
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** Sperka, T; Song, Z; Morita, Y; Nalapareddy, K; Guachalla, LM; Lechel, A; Begus-Nahrmann, Y; Burkhalter, MD; Mach, M; Schlaudraff, F; Liss, B; Ju, Z; Speicher, MR; Rudolph, KL Puma and p21 represent cooperating checkpoints limiting self-renewal and chromosomal instability of somatic stem cells in response to telomere dysfunction.
Nat Cell Biol. 2011; 14(1):73-79 Doi: 10.1038/ncb2388
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** Wiesner, T; Obenauf, AC; Murali, R; Fried, I; Griewank, KG; Ulz, P; Windpassinger, C; Wackernagel, W; Loy, S; Wolf, I; Viale, A; Lash, AE; Pirun, M; Socci, ND; Rütten, A; Palmedo, G; Abramson, D; Offit, K; Ott, A; Becker, JC; Cerroni, L; Kutzner, H; Bastian, BC; Speicher, MR Germline mutations in BAP1 predispose to melanocytic tumors.
Nat Genet. 2011; 43(10):1018-1021 Doi: 10.1038/ng.910 [OPEN ACCESS]
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Review

** Geigl, JB; Speicher, MR Nichtinvasive molekulargenetische Methoden in der pränatalen Diagnostik.
Medizinische Genetik. 2011; 23(4): 485-489. Doi: 10.1007/s11825-011-0304-x
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Editorial

** Speicher, M; Eiben, B Prenatal, Preimplantation and Polar Body
MED GENET-BERLIN. 2011; 23(4): 437-437. Doi: 10.1007/s11825-011-0299-3
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Abstract (Journal)

** Liegl, B; Flicker, K; Tavassoli, F; Speicher, M; Moinfar, F Molecular and Genetic Characterization of Diagnostically Challenging Uterine Smooth Muscle Neoplasms.
LAB INVEST. 2011; 91: 1084--100th Annual Meeting USCAP; FEB 26 - MAR 3, 2011; [Poster]
Web of Science

** Liegl, B; Flicker, K; Tavassoli, P; Speicher, M; Moinfar, F Molecular and Genetic Characterization of Diagnostically Challenging Uterine Smooth Muscle Neoplasms
MODERN PATHOL. 2011; 24: 1084 [Poster]
Web of Science

2010

Full paper/article (Journal)

** Geigl, JB; Heitzer, E; Speicher, MR Predictive five prognostic genetic biomarkers.
WIEN KLIN WOCHENSCHR. 2010; 122 Suppl 2(8): 49-70.
Web of Science

** Obenauf, AC; Schwarzbraun, T; Auer, M; Hoffmann, EM; Waldispuehl-Geigl, J; Ulz, P; Günther, B; Duba, HC; Speicher, MR; Geigl, JB Mapping of balanced chromosome translocation breakpoints to the basepair level from microdissected chromosomes.
J Cell Mol Med. 2010; 14(8):2078-2084 Doi: 10.1111/j.1582-4934.2010.01116.x (- Case Report) [OPEN ACCESS]
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** Pabst, MA; Letofsky-Papst, I; Moser, M; Spindler, K; Bock, E; Wilhelm, P; Dorfer, L; Geigl, JB; Auer, M; Speicher, MR; Hofer, F Different staining substances were used in decorative and therapeutic tattoos in a 1000-year-old Peruvian mummy
J ARCHAEOL SCI. 2010; 37(12): 3256-3262. Doi: 10.1016/j.jas.2010.07.026
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** Roetzer, KM; Schwarzbraun, T; Obenauf, AC; Hauser, E; Speicher, MR Further evidence for the pathogenicity of 15q24 microduplications distal to the minimal critical regions.
Am J Med Genet A. 2010; 152A(12):3173-3178 Doi: 10.1002/ajmg.a.33750 (- Case Report)
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** Sovinz, P; Urban, C; Uhrig, S; Stepan, V; Lackner, H; Schwinger, W; Benesch, M; Moser, A; Spuller, E; Speicher, MR Pheochromocytoma in a 2.75-year-old-girl with a germline von Hippel-Lindau mutation Q164R.
Am J Med Genet A. 2010; 152A(7): 1752-1755. Doi: 10.1002/ajmg.a.33407 (- Case Report)
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** Speicher, MR; Geigl, JB; Tomlinson, IP Effect of genome-wide association studies, direct-to-consumer genetic testing, and high-speed sequencing technologies on predictive genetic counselling for cancer risk.
Lancet Oncol. 2010; 11(9): 890-898. Doi: 10.1016/S1470-2045(09)70359-6
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** Van Raamsdonk, CD; Griewank, KG; Crosby, MB; Garrido, MC; Vemula, S; Wiesner, T; Obenauf, AC; Wackernagel, W; Green, G; Bouvier, N; Sozen, MM; Baimukanova, G; Roy, R; Heguy, A; Dolgalev, I; Khanin, R; Busam, K; Speicher, MR; O'Brien, J; Bastian, BC Mutations in GNA11 in Uveal Melanoma.
N ENGL J MED. 2010; 363(23): 2191-2199. Doi: 10.1056/NEJMoa1000584 [OPEN ACCESS]
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** Wiesner, T; Obenauf, AC; Cota, C; Fried, I; Speicher, MR; Cerroni, L Alterations of the cell-cycle inhibitors p27(KIP1) and p16(INK4a) are frequent in blastic plasmacytoid dendritic cell neoplasms.
J Invest Dermatol. 2010; 130(4):1152-1157 Doi: 10.1038/jid.2009.369 [OPEN ACCESS]
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Abstract (Journal)

** Mathiesen, RR; Fjelldal, R; Due, EU; Geigl, JB; Riethdorf, S; Borresen-Dale, AL; Pantel, K; Speicher, MR; Baumbusch, LO; Naume, B Genomic profiles of single tumour cells in metastatic breast cancer patients
EJC SUPPL. 2010; 8(5): 367 Doi: 10.1016/S1359-6349(10)71168-X
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** Pristauz, G; Petru, E; Stacher, E; Geigl, J; Speicher, M; Winter, R; Moinfar, F Androgen receptor expression in patients with BRCA1/2-positive and BRCA1/2-negative breast cancer
GYNECOL ONCOL. 2010; 116(3):62- [Keynote lecture]
Web of Science

** Reinisch, A; Hofmann, N; Obenauf, A; Karl, K; Rohde, E; Schallmoser, K; Thaler, D; Fruhwirth, M; Flicker, K; Linkesch, W; Speicher, M; Strunk, D STABLE VESSEL GENERATION TROUGH APPLICATION OF BLOOD-DERIVED ENDOTHELIAL COLONY FORMING PROGENITOR CELLS (ECFCS) AND MESENCHYMAL STROMAL/STEM CELLS (MSCS)
HAEMATOL-HEMATOL J. 15th Congress of the European Hematology Association. 2010; 95(s2):0509-220.-15th Congress of the European Hematology Association. ; JUN 10-13, 2010; Barcelona, SPAIN. [Oral Communication]
Web of Science

** Reinisch, A; Hofmann, NA; Obenauf, A; Kashofer, K; Rohde, E; Schallmoser, K; Thaler, D; Fruhwirth, M; Flicker, K; Linkesch, W; Speicher, M; Strunk, D Sustained vessel formation through co-transplantation of endothelial colony-forming progenitor cells with mesenchymal stromal cells
BONE MARROW TRANSPLANT. 2010; 45: S52-S52. -36th Annual Meeting of the European Group for Blood and Marrow Transplantation; MAR 21-24, 2010; Vienna, AUSTRIA. [Oral Communication]
Web of Science

2009

Full paper/article (Journal)

** Begus-Nahrmann, Y; Lechel, A; Obenauf, AC; Nalapareddy, K; Peit, E; Hoffmann, E; Schlaudraff, F; Liss, B; Schirmacher, P; Kestler, H; Danenberg, E; Barker, N; Clevers, H; Speicher, MR; Rudolph, KL p53 deletion impairs clearance of chromosomal-instable stem cells in aging telomere-dysfunctional mice.
Nat Genet. 2009; 41(10): 1138-1143. Doi: 10.1038/ng.426
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** Geigl, JB; Obenauf, AC; Waldispuehl-Geigl, J; Hoffmann, EM; Auer, M; Hörmann, M; Fischer, M; Trajanoski, Z; Schenk, MA; Baumbusch, LO; Speicher, MR Identification of small gains and losses in single cells after whole genome amplification on tiling oligo arrays.
Nucleic Acids Res. 2009; 37(15): e105-e105. Doi: 10.1093/nar/gkp526 [OPEN ACCESS]
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** Liu, ZY; Obenauf, AC; Speicher, MR; Kopan, R Rapid identification of homologous recombinants and determination of gene copy number with reference/query pyrosequencing (RQPS).
GENOME RES. 2009; 19(11): 2081-2089. Doi: 10.1101/gr.093856.109 [OPEN ACCESS]
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** Reinisch, A; Hofmann, NA; Obenauf, AC; Kashofer, K; Rohde, E; Schallmoser, K; Flicker, K; Lanzer, G; Linkesch, W; Speicher, MR; Strunk, D Humanized large-scale expanded endothelial colony-forming cells function in vitro and in vivo.
Blood. 2009; 113(26): 6716-6725. Doi: 10.1182/blood-2008-09-181362 [OPEN ACCESS]
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Short report/Letter

** Schwarzbraun, T; Obenauf, A; Langmann, A; Gruber-Sedlmayr, U; Wagner, K; Speicher, M; Kroisel, P Predictive diagnosis of the cancer prone Li-Fraumeni syndrome by accident: new challenges through whole genome array testing.
J Med Genet. 2009; 46(5): 341-344. Doi: 10.1136/jmg.2008.064972 (- Case Report) [OPEN ACCESS]
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** Wiesner, T; Obenauf, AC; Geigl, JB; Vallant, EM; Speicher, MR; Fink-Puches, R; Kerl, H; Cerroni, L 9p21 deletion in primary cutaneous large B-cell lymphoma, leg type, may escape detection by standard FISH assays.
J Invest Dermatol. 2009; 129(1): 238-240. Doi: 10.1038/jid.2008.224 (- Case Report) [OPEN ACCESS]
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Abstract (Journal)

** Baumbusch, LO; Geigl, JB; Riethdorf, S; Schneider, IJ; Mathiesen, RMR; Fjelldal, R; Borresen-Dale, AL; Pantel, K; Speicher, MR; Naume, B Molecular signatures of disseminated tumour cells in metastatic breast cancer patients
EJC SUPPL. 2009; 7(2):113-114.-34th ESMO Multidisciplinary Congress BERLIN; 2024 SEPTEMBER 2009 ; Berlin. Doi: 10.1016/S1359-6349(09)70389-1 [Oral Communication]
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** Reinisch, A; Hofmann, NA; Obenauf, A; Kashofer, K; Rohde, E; Schallmoser, K; Thaler, D; Fruehwirth, M; Flicker, K; Linkesch, W; Speicher, M; Strunk, D Vascular regeneration by adult blood-derived endothelial colony-forming cells expanded under animal serum-free conditions
BONE MARROW TRANSPLANT. 35th Annual Meeting of the European Group for Blood and Marrow Transplantation2009; 43(1):S19-S20.-35th Annual Meeting of the European Group for Blood and Marrow Transplantation; MAR 29-APR 01, 2009; Goteborg, SWEDEN. [Oral Communication]
Web of Science

** Scheffer, A; Yamada, NA; Ach, R; Tsang, P; Carr, E; Aleksic, K; Sampas, N; Peter, BJ; Speicher, M; Bruhn, L High-Resolution Cytogenetic Analysis Using Customized Oligonucleotide-Based Fluorescence in situ Hybridization (FISH)
J MOL DIAGN. 2009; 11(6):675-675. [Poster]
Web of Science

** Schwarzbraun, T; Wang, LHC; Obenauf, AC; Ulz, P; Nigg, EA; Speicher, MR MITOSIS UPDATED - PICH AND THE ANAPHASE THREADS
CELL ONCOL. 2009; 31(2):90-91.-3rd Marie Curie-Genome Architecture in Relation to Disease Meeting (MC-GARD); APR 01-05, 2009; Edinburgh, SCOTLAND. [Oral Communication]
Web of Science

** Thomas, W; Obenauf, AC; Speicher, MR; Cerroni, L Genomic characterisation of blastic plasmacytoid dendritic cell neoplasms by array CGH
J INVEST DERMATOL. JID2009; 129: S73-S73.-39th Annual Meeting of the ESDR; SEP 9-12, 2009; Budapest, HUNGARY. [Poster]
Web of Science

Comment

** Jahn, S; Minai-Pour, MB; Speicher, MR; Reiner-Concin, A; Hoefler, G Comprehensive screening for Lynch syndrome: who can be the driving force in daily clinical practice?
J CLIN ONCOL. 2009; 27(13): 2292-2292. Doi: 10.1200/JCO.2009.22.0731 [OPEN ACCESS]
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2008

Full paper/article (Journal)

** Auer-Grumbach, M; Fischer, C; Papić, L; John, E; Plecko, B; Bittner, RE; Bernert, G; Pieber, TR; Miltenberger, G; Schwarz, R; Windpassinger, C; Grill, F; Timmerman, V; Speicher, MR; Janecke, AR Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome.
Neuropediatrics. 2008; 39(1):33-38 Doi: 10.1055/s-2008-1077085 [OPEN ACCESS]
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** Geigl, J; Speicher, M New methods of single-cell analysis in research and diagnostics
MED GENET. 2008; 20(4): 407-415. Doi: 10.1007/s11825-008-0138-3
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** Stolte, T; Hosel, V; Mueller, J; Speicher, M Modeling clonal expansion from M-FISH experiments.
J COMPUT BIOLOGY. 2008; 15(2): 221-230. Doi: 10.1089/cmb.2007.0076
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** Wang, LH; Schwarzbraun, T; Speicher, MR; Nigg, EA Persistence of DNA threads in human anaphase cells suggests late completion of sister chromatid decatenation.
Chromosoma. 2008; 117(2): 123-135. Doi: 10.1007/s00412-007-0131-7 [OPEN ACCESS]
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Review

** Geigl, JB; Obenauf, AC; Schwarzbraun, T; Speicher, MR Defining 'chromosomal instability'.
Trends Genet. 2008; 24(2): 64-69. Doi: 10.1016/j.tig.2007.11.006
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Editorial

** Speicher, MR Future of cytogenetics
MED GENET. 2008; 20(4): 349-352. Doi: 10.1007/s11825-008-0129-4
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Abstract (Journal)

** Reinisch, A; Hofmann, NA; Obenauf, A; Kashofer, K; Rohde, E; Schallmoser, K; Thaler, D; Fruehwirth, M; Linkesch, W; Speicher, M; Strunk, D Making Functional Endothelial Progenitors: Humanized Large-scale Animal Serum-free Propagated Adult Blood-derived Endothelial Colony-forming Cells Assemble Stable Perfused Vessels In vivo.
Fiftieth Annual Meeting Abstracts2008; 112(11):659-659.-American Society of Hematology 50th Annual Meeting and Exposition; DEC 6-9, 2008; San Francisco, USA. [Poster]
Web of Science

Abstract (Proceedings)

** Schallmoser, K; Rohde, E; Reinisch, A; Obenauf, A; Speicher, M; Bartmann, C; Lanzer, G; Linkesch, W; Strunk, D Minimum requirements for fully humanised clinical scale propagation of multipotent mesenchymal stromal cells.
. 2008; 41(1): S314-S314. [Poster]
Web of Science

2007

Full paper/article (Journal)

** Fiegler, H; Geigl, JB; Langer, S; Rigler, D; Porter, K; Unger, K; Carter, NP; Speicher, MR High resolution array-CGH analysis of single cells.
Nucleic Acids Res. 2007; 35(3): e15-e15. Doi: 10.1093/nar/gkl1030 [OPEN ACCESS]
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** Geigl, JB; Speicher, MR Single-cell isolation from cell suspensions and whole genome amplification from single cells to provide templates for CGH analysis.
Nat Protoc. 2007; 2(12): 3173-3184. Doi: 10.1038/nprot.2007.476
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** Körner, H; Epanchintsev, A; Berking, C; Schuler-Thurner, B; Speicher, MR; Menssen, A; Hermeking, H Digital karyotyping reveals frequent inactivation of the dystrophin/DMD gene in malignant melanoma.
CELL CYCLE. 2007; 6(2): 189-198. Doi: 10.4161/cc.6.2.3733 [OPEN ACCESS]
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** Kupper, K; Kolbl, A; Biener, D; Dittrich, S; von Hase, J; Thormeyer, T; Fiegler, H; Carter, NP; Speicher, MR; Cremer, T; Cremer, M Radial chromatin positioning is shaped by local gene density, not by gene expression
CHROMOSOMA. 2007; 116(3): 285-306. Doi: 10.1007/s00412-007-0098-4 [OPEN ACCESS]
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** Miething, C; Grundler, R; Mugler, C; Brero, S; Hoepfl, J; Geigl, J; Speicher, MR; Ottmann, O; Peschel, C; Duyster, J Retroviral insertional mutagenesis identifies RUNX genes involved in chronic myeloid leukemia disease persistence under imatinib treatment.
Proc Natl Acad Sci U S A. 2007; 104(11): 4594-4599. Doi: 10.1073/pnas.0604716104 [OPEN ACCESS]
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** Uhrig, S; Geigl, JB; Speicher, MR Genetic counseling in multiple pregnancies
Gynakol Geburtshilfliche Rundsch. 2007; 47(1): 9-13. Doi: 10.1159/000098120
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Short report/Letter

** Uhrig, S; Schlembach, D; Waldispuehl-Geigl, J; Schaffer, W; Geigl, J; Klopocki, E; Mundlos, S; Speicher, MR Impact of array comparative genomic hybridization-derived information on genetic counseling demonstrated by prenatal diagnosis of the TAR (thrombocytopenia-absent-radius) syndrome-associated microdeletion 1q21.1.
Am J Hum Genet. 2007; 81(4): 866-868. Doi: 10.1086/521338 [OPEN ACCESS]
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Editorial

** Speicher, MR; Higgins, JJ Hybridize and personalize: the new age of syndromal mental retardation diagnostics.
NEUROLOGY. 2007; 68(10): 721-722. Doi: 10.1212/01.wnl.0000258539.19756.95
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Abstract (Journal)

** Auer-Grumbach, M; Fischer, C; Duong, N; Huebner, A; John, E; Wagner, K; Speicher, M; Wehnert, M LMNA p.R644C: Pathogenic mutation of low penetrance, disease modifier or polymorphism?
NEUROMUSCULAR DISORD. 2007; 17(9-10):799-799. Doi: 10.1016/j.nmd.2007.06.129 [Poster]
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** Auer-Grumbach, M; John, E; Wallefeld, W; Fischer, C; Speicher, M; Laing, N A novel slow-skeletal myosin (MYH7) mutation in a large Austrian family presenting as late onset distal myopathy
NEUROMUSCULAR DISORD. 2007; 17(9-10):883-884. Doi: 10.1016/j.nmd.2007.06.407 [Poster]
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** Schipf, A; Pfleghaar, K; Speicher, M; Kirchner, T; Diebold, J Chromosomal instability (CIN) in early colorectal adenoma: A FISH analysis
PATHOL RES PRACT. 2007; 203(5):366-367. [Poster]
Web of Science

** Schwarzbraun, T; Pfleghaar, K; Obenauf, A; Cremer, T; Cremer, M; Speicher, M The impact of CDC4 mutations and cyclin E increase on chromosomal instability
CELL ONCOL. 2007; 29(2):116-117.-MC-GARD Conference: Molecular profiling of the genome; Amsterdam, Netherlands. [Oral Communication]
Web of Science

** Speicher, MR High resolution single cell analysis
CHROMOSOME RES. 2007; 15: 83-84. [Oral Communication]
Web of Science

2006

Full paper/article (Journal)

** Codina-Pascual, M; Campillo, M; Kraus, J; Speicher, MR; Egozcue, J; Navarro, J; Benet, J Crossover frequency and synaptonemal complex length: their variability and effects on human male meiosis.
MOL HUM REPROD. 2006; 12(2): 123-133. Doi: 10.1093/molehr/gal007 [OPEN ACCESS]
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** Codina-Pascual, M; Navarro, J; Oliver-Bonet, M; Kraus, J; Speicher, MR; Arango, O; Egozcue, J; Benet, J Behaviour of human heterochromatic regions during the synapsis of homologous chromosomes.
Hum Reprod. 2006; 21(6): 1490-1497. Doi: 10.1093/humrep/del028 [OPEN ACCESS]
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** Fauth, C; Gribble, SM; Porter, KM; Codina-Pascual, M; Ng, BL; Kraus, J; Uhrig, S; Leifheit, J; Haaf, T; Fiegler, H; Carter, NP; Speicher, MR Micro-array analyses decipher exceptional complex familial chromosomal rearrangement.
Hum Genet. 2006; 119(1-2):145-153 Doi: 10.1007/s00439-005-0103-z (- Case Report)
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** Geigl, JB; Uhrig, S; Speicher, MR Multiplex-fluorescence in situ hybridization for chromosome karyotyping.
Nat Protoc. 2006; 1(3): 1172-1184. Doi: 10.1038/nprot.2006.160
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** Langer, S; Geigl, JB; Wagenstaller, J; Lederer, G; Hempel, M; Daumer-Haas, C; Leifheit, HJ; Speicher, MR Delineation of a 2q deletion in a girl with dysmorphic features and epilepsy.
Am J Med Genet A. 2006; 140(7):764-768 Doi: 10.1002/ajmg.a.31141 (- Case Report)
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** Mayr, C; Speicher, MR; Kofler, DM; Buhmann, R; Strehl, J; Busch, R; Hallek, M; Wendtner, CM Chromosomal translocations are associated with poor prognosis in chronic lymphocytic leukemia.
Blood. 2006; 107(2):742-751 Doi: 10.1182/blood-2005-05-2093 [OPEN ACCESS]
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Review

** Walter, J; Joffe, B; Bolzer, A; Albiez, H; Benedetti, PA; Müller, S; Speicher, MR; Cremer, T; Cremer, M; Solovei, I Towards many colors in FISH on 3D-preserved interphase nuclei.
Cytogenet Genome Res. 2006; 114(3-4): 367-378. Doi: 10.1159/000094227 [OPEN ACCESS]
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Abstract (Journal)

** Mayr, C; Schulz, C; Stilgenbauer, S; Krober, A; Dohner, H; Jager, U; Kainz, B; Hopfinger, G; Hoffmann, R; Wendtner, C; Hallek, M; Speicher, MR Occurrence of chromosomal translocations as independent prognostic factor in chronic lymphocytic leukemia.
BLOOD. 2006; 108(11): 590A-590A. Doi: 10.1182/blood.V108.11.2084.2084 [Poster]
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2005

Full paper/article (Journal)

** Bolzer, A; Kreth, G; Solovei, I; Koehler, D; Saracoglu, K; Fauth, C; Muller, S; Eils, R; Cremer, C; Speicher, MR; Cremer, T Three-dimensional maps of all chromosomes in human male fibroblast nuclei and prometaphase rosettes
PLOS BIOL 2005 3: 826-842. Doi: 10.1371/journal.pbio.0030157 [OPEN ACCESS]
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** Langer, S; Geigl, JB; Ehnle, S; Gangnus, R; Speicher, MR Live cell catapulting and recultivation does not change the karyotype of HCT116 tumor cells.
Cancer Genet Cytogenet. 2005; 161(2):174-177 Doi: 10.1016/j.cancergencyto.2005.01.013
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** Langer, S; Geigl, JB; Gangnus, R; Speicher, MR Sequential application of interphase-FISH and CGH to single cells.
Lab Invest. 2005; 85(4):582-592 Doi: 10.1038/labinvest.3700249 [OPEN ACCESS]
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** Pfleghaar, K; Heubes, S; Cox, J; Stemmann, O; Speicher, MR Securin is not required for chromosomal stability in human cells
PLOS BIOL 2005 3: 2127-2134. Doi: 10.1371/journal.pbio.0030416 [OPEN ACCESS]
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** Speicher, MR Monitoring chromosome rearrangements.
Adv Exp Med Biol. 2005; 570: 19-41. Doi: 10.1007/1-4020-3764-3_2
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Review

** Speicher, MR; Carter, NP The new cytogenetics: blurring the boundaries with molecular biology.
Nat Rev Genet. 2005; 6(10):782-792 Doi: 10.1038/nrg1692
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** von Bubnoff, N; Barwisch, S; Speicher, MR; Peschel, C; Duyster, J A cell-based screening strategy that predicts mutations in oncogenic tyrosine kinases: implications for clinical resistance in targeted cancer treatment.
Cell Cycle. 2005; 4(3):400-406 Doi: 10.4161/cc.4.3.1560 [OPEN ACCESS]
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2004

Full paper/article (Journal)

** Adler, ID; Gonda, H; Hrabé de Angelis, M; Jentsch, I; Otten, IS; Speicher, MR Heritable translocations induced by dermal exposure of male mice to acrylamide.
CYTOGENET GENOME RES. 2004; 104(1-4): 271-276. Doi: 10.1159/000077501
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** Codina-Pascual, M; Kraus, J; Speicher, MR; Oliver-Bonet, M; Murcia, V; Sarquella, J; Egozcue, J; Navarro, J; Benet, J Characterization of all human male synaptonemal complexes by subtelomere multiplex-FISH.
Cytogenet Genome Res. 2004; 107(1-2):18-21 Doi: 10.1159/000079566
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** Fauth, C; O'Hare, MJ; Lederer, G; Jat, PS; Speicher, MR Order of genetic events is critical determinant of aberrations in chromosome count and structure.
Genes Chromosomes Cancer. 2004; 40(4):298-306 Doi: 10.1002/gcc.20051
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** Gangnus, R; Langer, S; Breit, E; Pantel, K; Speicher, MR Genomic profiling of viable and proliferative micrometastatic cells from early-stage breast cancer patients.
Clin Cancer Res. 2004; 10(10):3457-3464 Doi: 10.1158/1078-0432.CCR-03-0818 [OPEN ACCESS]
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** Geigl, JB; Langer, S; Barwisch, S; Pfleghaar, K; Lederer, G; Speicher, MR Analysis of gene expression patterns and chromosomal changes associated with aging.
Cancer Res. 2004; 64(23):8550-8557 Doi: 10.1158/0008-5472.CAN-04-2151 [OPEN ACCESS]
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** Langer, S; Kraus, J; Jentsch, I; Speicher, MR Multicolor chromosome painting in diagnostic and research applications.
Chromosome Res. 2004; 12(1):15-23 Doi: 10.1023/B:CHRO.0000009326.21752.88
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** Meins, M; Bohm, D; Grossmann, A; Herting, E; Fleckenstein, B; Fauth, C; Speicher, MR; Schindler, R; Zoll, B; Bartels, I; Burfeind, P First non-mosaic case of isopseudodicentric chromosome 18 (psu idic(18)(pter -> q22.1 :: q22.1 -> pter) is associated with multiple congenital anomalies reminiscent of trisomy 18 and 18q-syndrome
AM J MED GENET PART A 2004 : 58-64. Doi: 10.1002/ajmg.a.20644
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** Rost, I; Fiegler, H; Fauth, C; Carr, P; Bettecken, T; Kraus, J; Meyer, C; Enders, A; Wirtz, A; Meitinger, T; Carter, NP; Speicher, MR Tetrasomy 21pter-->q21.2 in a male infant without typical Down's syndrome dysmorphic features but moderate mental retardation.
J Med Genet. 2004; 41(3):e26-e26 Doi: 10.1136/jmg.2003.011833 (- Case Report) [OPEN ACCESS]
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** Thalhammer, S; Langer, S; Speicher, MR; Heckl, WM; Geigl, JB Generation of chromosome painting probes from single chromosomes by laser microdissection and linker-adaptor PCR.
Chromosome Res. 2004; 12(4):337-343 Doi: 10.1023/B:CHRO.0000034132.77192.5f
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2003

Full paper/article (Journal)

** Cremer, M; Küpper, K; Wagler, B; Wizelman, L; von Hase, J; Weiland, Y; Kreja, L; Diebold, J; Speicher, MR; Cremer, T Inheritance of gene density-related higher order chromatin arrangements in normal and tumor cell nuclei.
J Cell Biol. 2003; 162(5):809-820 Doi: 10.1083/jcb.200304096 [OPEN ACCESS]
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** Jentsch, I; Geigl, J; Klein, CA; Speicher, MR Seven-fluorochrome mouse M-FISH for high-resolution analysis of interchromosomal rearrangements.
Cytogenet Genome Res. 2003; 103(1-2):84-88 Doi: 10.1159/000076294 [OPEN ACCESS]
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** Kraus, J; Cohen, M; Speicher, MR Multicolour FISH fine mapping unravels an insertion as a complex chromosomal rearrangement involving six breakpoints and a 5.89 Mb large deletion.
J Med Genet. 2003; 40(5):e60-e60 Doi: 10.1136/jmg.40.5.e60 (- Case Report) [OPEN ACCESS]
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** Kraus, J; Lederer, G; Keri, C; Seidel, H; Rost, I; Wirtz, A; Fauth, C; Speicher, MR A familial unbalanced subtelomeric translocation resulting in monosomy 6q27-->qter.
J Med Genet. 2003; 40(4):e48-e48 Doi: 10.1136/jmg.40.4.e48 (- Case Report) [OPEN ACCESS]
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** Kraus, J; Pantel, K; Pinkel, D; Albertson, DG; Speicher, MR High-resolution genomic profiling of occult micrometastatic tumor cells.
Genes Chromosomes Cancer. 2003; 36(2):159-166 Doi: 10.1002/gcc.10160
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** Maierhofer, C; Gangnus, R; Diebold, J; Speicher, MR Multicolor deconvolution microscopy of thick biological specimens.
Am J Pathol. 2003; 162(2):373-379 Doi: 10.1016/S0002-9440(10)63832-1 [OPEN ACCESS]
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** Meins, M; Burfeind, P; Motsch, S; Trappe, R; Bartmus, D; Langer, S; Speicher, MR; Mühlendyck, H; Bartels, I; Zoll, B Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndrome.
J Med Genet. 2003; 40(5):e62-e62 Doi: 10.1136/jmg.40.5.e62 (- Case Report) [OPEN ACCESS]
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** Traverso, G; Bettegowda, C; Kraus, J; Speicher, MR; Kinzler, KW; Vogelstein, B; Lengauer, C Hyper-recombination and genetic instability in BLM-deficient epithelial cells.
Cancer Res. 2003; 63(24):8578-8581 [OPEN ACCESS]
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Short report/Letter

** Weiland, Y; Kraus, J; Speicher, MR A multicolor FISH assay does not detect DUP25 in control individuals or in reported positive control cells.
Am J Hum Genet. 2003; 72(5):1349-1352 Doi: 10.1086/375168 [OPEN ACCESS]
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Abstract (Journal)

** Speicher, MR; Fiegler, H; Fauth, C; Carr, P; Kraus, J; Carter, NP Application of array CGH in clinical genetics.
AMER J HUM GENET 2003 73: 311-311.
Web of Science

2002

Full paper/article (Journal)

** Adler, ID; Kliesch, U; Jentsch, I; Speicher, MR Induction of chromosomal aberrations by dacarbazine in somatic and germinal cells of mice.
Mutagenesis. 2002; 17(5):383-389 Doi: 10.1093/mutage/17.5.383 [OPEN ACCESS]
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** Bunz, F; Fauth, C; Speicher, MR; Dutriaux, A; Sedivy, JM; Kinzler, KW; Vogelstein, B; Lengauer, C Targeted inactivation of p53 in human cells does not result in aneuploidy.
Cancer Res. 2002; 62(4):1129-1133 [OPEN ACCESS]
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** Eggan, K; Rode, A; Jentsch, I; Samuel, C; Hennek, T; Tintrup, H; Zevnik, B; Erwin, J; Loring, J; Jackson-Grusby, L; Speicher, MR; Kuehn, R; Jaenisch, R Male and female mice derived from the same embryonic stem cell clone by tetraploid embryo complementation.
Nat Biotechnol. 2002; 20(5):455-459 Doi: 10.1038/nbt0502-455
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** Maierhofer, C; Jentsch, I; Lederer, G; Fauth, C; Speicher, MR Multicolor FISH in two and three dimensions for clastogenic analyses.
Mutagenesis. 2002; 17(6):523-527 Doi: 10.1093/mutage/17.6.523 [OPEN ACCESS]
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** Solakoglu, O; Maierhofer, C; Lahr, G; Breit, E; Scheunemann, P; Heumos, I; Pichlmeier, U; Schlimok, G; Oberneder, R; Kollermann, MW; Kollermann, J; Speicher, MR; Pantel, K Heterogeneous proliferative potential of occult metastatic cells in bone marrow of patients with solid epithelial tumors.
Proc Natl Acad Sci U S A. 2002; 99(4):2246-2251 Doi: 10.1073/pnas.042372199 [OPEN ACCESS]
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** Wang, TL; Maierhofer, C; Speicher, MR; Lengauer, C; Vogelstein, B; Kinzler, KW; Velculescu, VE Digital karyotyping.
Proc Natl Acad Sci U S A. 2002; 99(25):16156-16161 Doi: 10.1073/pnas.202610899 [OPEN ACCESS]
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** Zenker, M; Rittinger, O; Grosse, KP; Speicher, MR; Kraus, J; Rauch, A; Trautmann, U Monosomy 1p36--a recently delineated, clinically recognizable syndrome.
Clin Dysmorphol. 2002; 11(1):43-48 Doi: 10.1097/00019605-200201000-00009 (- Case Report)
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Abstract (Journal)

** Puttinger, R; Kronberger, G; Kraus, J; Speicher, MR; Rittinger, O Dup(3)(q26 > qter) & del(3)(pter > p25) due to paternal pericentric inv(3) but with phenotypic abnormalities not consistent with both well-known clinical syndromes - A case report
EUR J HUMAN GENET 2002 10: 119-119.
Web of Science

** Speicher, MR; Kraus, J; Gangnus, R; Maierhofer, C; Jentsch, I; Langer, S; Lederer, G; Keri, C; Fauth, C Multicolor FISH in two and three-dimensions
EUR J HUMAN GENET 2002 10: 57-58.
Web of Science

2001

Full paper/article (Journal)

** Bardelli, A; Cahill, DP; Lederer, G; Speicher, MR; Kinzler, KW; Vogelstein, B; Lengauer, C Carcinogen-specific induction of genetic instability.
Proc Natl Acad Sci U S A. 2001; 98(10):5770-5775 Doi: 10.1073/pnas.081082898 [OPEN ACCESS]
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** Brown, J; Saracoglu, K; Uhrig, S; Speicher, MR; Eils, R; Kearney, L Subtelomeric chromosome rearrangements are detected using an innovative 12-color FISH assay (M-TEL).
Nat Med. 2001; 7(4):497-501 Doi: 10.1038/86581
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** Fauth, C; Bartels, I; Haaf, T; Speicher, MR Additional dark G-band in the p-arm of chromosome 19 due to a paracentric inversion with a breakpoint in the pericentromeric heterochromatin.
Am J Med Genet. 2001; 103(2):160-162 Doi: 10.1002/ajmg.1520 (- Case Report)
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** Fauth, C; Zhang, H; Harabacz, S; Brown, J; Saracoglu, K; Lederer, G; Rittinger, O; Rost, I; Eils, R; Kearney, L; Speicher, MR A new strategy for the detection of subtelomeric rearrangements.
Hum Genet. 2001; 109(6):576-583 Doi: 10.1007/s00439-001-0629-7
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** Jallepalli, PV; Waizenegger, IC; Bunz, F; Langer, S; Speicher, MR; Peters, JM; Kinzler, KW; Vogelstein, B; Lengauer, C Securin is required for chromosomal stability in human cells.
Cell. 2001; 105(4):445-457 Doi: 10.1016/S0092-8674(01)00340-3 [OPEN ACCESS]
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** Jentsch, I; Adler, ID; Carter, NP; Speicher, MR Karyotyping mouse chromosomes by multiplex-FISH (M-FISH).
Chromosome Res. 2001; 9(3):211-214 Doi: 10.1023/A:1016696303479
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** Langer, S; Fauth, C; Rocchi, M; Murken, J; Speicher, MR AcroM fluorescent in situ hybridization analyses of marker chromosomes.
Hum Genet. 2001; 109(2):152-158 Doi: 10.1007/s004390100571 (- Case Report)
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** Langer, S; Jentsch, I; Gangnus, R; Yan, H; Lengauer, C; Speicher, MR Facilitating haplotype analysis by fully automated analysis of all chromosomes in human-mouse hybrid cell lines.
Cytogenet Cell Genet. 2001; 93(1-2):11-15 Doi: 10.1159/000056938
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** Saracoglu, K; Brown, J; Kearney, L; Uhrig, S; Azofeifa, J; Fauth, C; Speicher, MR; Eils, R New concepts to improve resolution and sensitivity of molecular cytogenetic diagnostics by multicolor fluorescence in situ hybridization.
Cytometry. 2001; 44(1):7-15 Doi: 10.1002/1097-0320(20010501)44:1<7::AID-CYTO1076>3.0.CO;2-G [OPEN ACCESS]
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** Stover, C; Gradl, G; Jentsch, I; Speicher, MR; Wieser, R; Schwaeble, W cDNA cloning, chromosome assignment, and genomic structure of a human gene encoding a novel member of the RBM family.
Cytogenet Cell Genet. 2001; 92(3-4):225-230 Doi: 10.1159/000056908
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Review

** Fauth, C; Speicher, MR Classifying by colors: FISH-based genome analysis.
Cytogenet Cell Genet. 2001; 93(1-2):1-10 Doi: 10.1159/000056937
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Correction

** Fauth, C; Speicher, MR Classifying by colors: FISH-based genome analysis (vol 93, pg 1, 2001)
CYTOGENET CELL GENET 2001 94: 254-254. Doi: 10.1159/000048829
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Abstract (Journal)

** Speicher, MR; Kraus, J; Bolzer, A; Gangnus, R; Maierhofer, C; Jentsch, I; Langer, S; Lederer, G; Keri, C; Fauth, C; Saracoglu, K; Eils, R Three-dimensional multicolor FISH for the single cell analysis of tumor interphase nuclei.
AMER J HUM GENET 2001 69: 231-231.
Web of Science

2000

Full paper/article (Journal)

** Azofeifa, J; Fauth, C; Kraus, J; Maierhofer, C; Langer, S; Bolzer, A; Reichman, J; Schuffenhauer, S; Speicher, MR An optimized probe set for the detection of small interchromosomal aberrations by use of 24-color FISH.
Am J Hum Genet. 2000; 66(5):1684-1688 Doi: 10.1086/302875 [OPEN ACCESS]
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** Castleman, KR; Eils, R; Morrison, L; Piper, J; Saracoglu, K; Schulze, MA; Speicher, MR Classification accuracy in multiple color fluorescence imaging microscopy.
Cytometry. 2000; 41(2):139-147 Doi: 10.1002/1097-0320(20001001)41:2<139::AID-CYTO9>3.0.CO;2-N
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** Grabowski, M; Fauth, C; Wirtz, A; Speicher, MR Breakpoint within the nucleolus organizer region resulting in a reciprocal translocation t (4;14)(q21;p12).
Am J Med Genet. 2000; 92(4):264-268 Doi: 10.1002/(SICI)1096-8628(20000605)92:4<264::AID-AJMG8>3.0.CO;2-T (- Case Report)
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** Holinski-Feder, E; Reyniers, E; Uhrig, S; Golla, A; Wauters, J; Kroisel, P; Bossuyt, P; Rost, I; Jedele, K; Zierler, H; Schwab, S; Wildenauer, D; Speicher, MR; Willems, PJ; Meitinger, T; Kooy, RF Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16)(q29;p13.3).
Am J Hum Genet. 2000; 66(1):16-25 Doi: 10.1086/302703 [OPEN ACCESS]
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** Hosch, S; Kraus, J; Scheunemann, P; Izbicki, JR; Schneider, C; Schumacher, U; Witter, K; Speicher, MR; Pantel, K Malignant potential and cytogenetic characteristics of occult disseminated tumor cells in esophageal cancer.
Cancer Res. 2000; 60(24):6836-6840 (- Case Report) [OPEN ACCESS]
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** Speicher, MR; Petersen, S; Uhrig, S; Jentsch, I; Fauth, C; Eils, R; Petersen, I Analysis of chromosomal alterations in non-small cell lung cancer by multiplex-FISH, comparative genomic hybridization, and multicolor bar coding.
Lab Invest. 2000; 80(7):1031-1041 Doi: 10.1038/labinvest.3780108 [OPEN ACCESS]
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** Stover, CM; Schleypen, J; Grønlund, J; Speicher, MR; Schwaeble, WJ; Holmskov, U Assignment of CD163B, the gene encoding M160, a novel scavenger receptor, to human chromosome 12p13.3 by in situ hybridization and somatic cell hybrid analysis.
Cytogenet Cell Genet. 2000; 90(3-4):246-247 Doi: 10.1159/000056781
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Short report/Letter

** Midro, AT; Panasiuk, B; Stasiewicz-Jarocka, B; Iwanowski, PS; Fauth, C; Speicher, MR; Lesniewicz, R Risk estimates for carriers of chromosome reciprocal translocation t(4;9)(p15.2;p13).
Clin Genet. 2000; 58(2):153-155 Doi: 10.1034/j.1399-0004.2000.580212.x
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** Schmidt, H; Uhrig, S; Lederer, G; Murken, J; Speicher, MR; Schuffenhauer, S Mosaicism for a dup(12)(q22q13) in a patient with hypomelanosis of Ito and asymmetry.
J Med Genet. 2000; 37(10):804-807 Doi: 10.1136/jmg.37.10.804 (- Case Report) [OPEN ACCESS]
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Correction

** Speicher, MR; Petersen, S; Uhrig, S; Jentsch, I; Fauth, C; Eils, R; Petersen, I Analysis of chromosomal alterations in non-small cell lung cancer by multiplex-FISH, comparative hybridization and multicolor bar coding (vol 80, pg 1031, 2000)
LAB INVEST 2000 80: 1145-1145. Doi: 10.1038/labinvest.3780108
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1999

Full paper/article (Journal)

** Bolzer, A; Craig, JM; Cremer, T; Speicher, MR A complete set of repeat-depleted, PCR-amplifiable, human chromosome-specific painting probes.
Cytogenet Cell Genet. 1999; 84(3-4):233-240 Doi: 10.1159/000015266
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** Klein, CA; Schmidt-Kittler, O; Schardt, JA; Pantel, K; Speicher, MR; Riethmüller, G Comparative genomic hybridization, loss of heterozygosity, and DNA sequence analysis of single cells.
Proc Natl Acad Sci U S A. 1999; 96(8):4494-4499 Doi: 10.1073/pnas.96.8.4494 [OPEN ACCESS]
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** Scheunemann, P; Hosch, SB; Witter, K; Kraus, J; Speicher, MR; Pantel, K; Izbicki, JR Biological relevance of occult tumor cells in a lymph node of a patient with resectable esophageal cancer
LANGENBECKS ARCH SURG 1999 : 105-108. Doi: 10.1007/978-3-642-60133-0_22
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** Stover, CM; Schwaeble, WJ; Lynch, NJ; Thiel, S; Speicher, MR Assignment of the gene encoding mannan-binding lectin-associated serine protease 2 (MASP2) to human chromosome 1p36.3-->p36.2 by in situ hybridization and somatic cell hybrid analysis.
Cytogenet Cell Genet. 1999; 84(3-4):148-149 Doi: 10.1159/000015243
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** Tallini, G; Hsueh, A; Liu, S; Garcia-Rostan, G; Speicher, MR; Ward, DC Frequent chromosomal DNA unbalance in thyroid oncocytic (Hürthle cell) neoplasms detected by comparative genomic hybridization.
Lab Invest. 1999; 79(5):547-555
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** Uhrig, S; Schuffenhauer, S; Fauth, C; Wirtz, A; Daumer-Haas, C; Apacik, C; Cohen, M; Müller-Navia, J; Cremer, T; Murken, J; Speicher, MR Multiplex-FISH for pre- and postnatal diagnostic applications.
Am J Hum Genet. 1999; 65(2):448-462 Doi: 10.1086/302508 [OPEN ACCESS]
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Abstract (Journal)

** Bartels, I; Bohlander, SK; Mehraein, Y; Speicher, MR; Uhrig, S; Zoll, B Molecular cytogenetic characterization of a familiar translocation (1;4) with a breakpoint telomeric to the most distal subtelomeric single copy probe known on chromosome 4.
AMER J HUM GENET 1999 65: -.
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** Bolzer, A; Saracoglu, K; Eils, R; Cremer, T; Speicher, MR Repeat depleted painting probes for M-FISH in 2-and 3-dimensional applications
CYTOGENET CELL GENET 1999 85: 104-104.
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** Brown, J; Saracoglu, K; Uhrig, S; Knight, SJL; Lucas, SJA; Speicher, MR; Eils, R; Kearney, L Development of a multicolour FISH assay for subtelomeric chromosome rearrangements in leukaemia
CYTOGENET CELL GENET 1999 85: 10-10.
Web of Science

** Daumer-Haas, C; Uhrig, S; Minderer, S; Fauth, C; Speicher, MR Rare structural rearrangements in prenatal diagnosis characterized by M-FISH
CYTOGENET CELL GENET 1999 85: 37-37.
Web of Science

** Eils, R; Bolzer, A; Saracoglu, K; Kraus, J; Fauth, C; Uhrig, S; Speicher, MR High resolution analysis of chromosomes using new M-FISH strategies and multicolor bar coding.
AMER J HUM GENET 1999 65: -.
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** Eils, R; Bolzer, A; Uhrig, S; Fauth, C; Kraus, J; Gangnus, R; Jentsch, I; Grabowski, M; Cleve, B; Azofeifa, J; Saracoglu, K; Speicher, MR Technical advances in multiplex-FISH (M-FISH) and other multicolor-FISH approaches
CYTOGENET CELL GENET 1999 85: 9-9.
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** Garcia-Rostan, G; Hsue, A; Liu, S; Speicher, MR; Ward, DC; Tallini, G Chromosomal DNA unbalance is a common alteration in thyroid oncocytic (Hurthle cell) neoplasms and is independent of Ras mutations
LAB INVEST 1999 79: -.
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** Jurgen, K; Scheunemann, P; Grabowski, M; Bolzer, A; Hosch, S; Izbicki, JR; Witter, K; Pantel, K; Speicher, MR Analysis of micrometastatic cancer cells by advanced molecular cytogenetic tools
CYTOGENET CELL GENET 1999 85: 125-125.
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** Klein, CA; Schmidt-Kittler, O; Schardt, JA; Speicher, MR; Ahr, A; Schlimok, G; Riethmuller, G Whole genome analysis of single micrometastatic cells from bone marrow of cancer patients
CYTOGENET CELL GENET 1999 85: 31-31.
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** Kooy, RF; Reyniers, E; Uhrig, S; Schoepen, I; Golla, A; Wauters, J; Kroisel, P; Bossuyt, P; Rost, I; Jedele, K; Zierler, H; Schwab, S; Wildenauer, D; Speicher, M; Willems, PJ; Meitinger, T; Holinkski-Feder, E Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation t(3;16)(q29;p13.3).
AMER J HUM GENET 1999 65: A168-A168.
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** Scheunemann, P; Hosch, SB; Kraus, J; Pantel, K; Speicher, MR; Izbicki, JR Malignant cytogenetic characteristics of nodal micrometastates in esophageal cancer
GASTROENTEROLOGY 1999 116: -.
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** Uhrig, S; Schuffenhauer, S; Fauth, C; Wirtz, A; Daumer-Haas, C; Minderer, S; Lederer, G; Apacik, C; Cohen, VM; Cremer, T; Murken, J; Speicher, MR Detection of cryptic rearrangements by M-FISH and multicolor-chromosomal-bar-codes for the elucidation of intrachromosomal rearrangements
CYTOGENET CELL GENET 1999 85: 168-168.
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1998

Full paper/article (Journal)

** Eils, R; Uhrig, S; Saracoglu, K; Sätzler, K; Bolzer, A; Petersen, I; Chassery, J; Ganser, M; Speicher, MR An optimized, fully automated system for fast and accurate identification of chromosomal rearrangements by multiplex-FISH (M-FISH).
Cytogenet Cell Genet. 1998; 82(3-4):160-171 Doi: 10.1159/000015092
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Abstract (Journal)

** Speicher, MR; Uhrig, S; Bolzer, A; Cleve, B; Kraus, J; Jauch, A; Eils, R Muliplex-FISH (M-FISH) in cancer and clinical genetics
EUR J HUMAN GENET 1998 6: 26-26.
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1997

Abstract (Journal)

** Eils, R; Speicher, MR A novel computational approach to fully automated karyotyping by multicolor-fluorescence in situ hybridization.
AMER J HUM GENET 1997 61: -.
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** Speicher, MR; Jauch, A; Eils, R; Uhrig, S; Bolzer, A; Cleve, B; Cremer, T; Bray-Ward, P; Ward, DC M-FISH with whole chromosome painting probes and subtelomere specific probes detects new non-randomly occurring chromosomal aberrations
AMER J HUM GENET 1997 61: -.
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** Tallini, G; Liu, S; Speicher, MR; Ward, DC; Costa, J Comparative genomic hybridization (CGH) study of sequential liposarcoma recurrences.
LAB INVEST 1997 76: 64-64.
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1996

Full paper/article (Journal)

** Eils, R; Dietzel, S; Bertin, E; Schröck, E; Speicher, MR; Ried, T; Robert-Nicoud, M; Cremer, C; Cremer, T Three-dimensional reconstruction of painted human interphase chromosomes: active and inactive X chromosome territories have similar volumes but differ in shape and surface structure.
J Cell Biol. 1996; 135(6 Pt 1):1427-1440 Doi: 10.1083/jcb.135.6.1427 [OPEN ACCESS]
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** Speicher, MR; Gwyn Ballard, S; Ward, DC Karyotyping human chromosomes by combinatorial multi-fluor FISH.
Nat Genet. 1996; 12(4):368-375 Doi: 10.1038/ng0496-368
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** Speicher, MR; Ward, DC The coloring of cytogenetics.
Nat Med. 1996; 2(9):1046-1048 Doi: 10.1038/nm0996-1046
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1995

Full paper/article (Journal)

** du Manoir, S; Schröck, E; Bentz, M; Speicher, MR; Joos, S; Ried, T; Lichter, P; Cremer, T Quantitative analysis of comparative genomic hybridization.
Cytometry. 1995; 19(1):27-41 Doi: 10.1002/cyto.990190105
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** Ried, T; Just, KE; Holtgreve-Grez, H; du Manoir, S; Speicher, MR; Schröck, E; Latham, C; Blegen, H; Zetterberg, A; Cremer, T Comparative genomic hybridization of formalin-fixed, paraffin-embedded breast tumors reveals different patterns of chromosomal gains and losses in fibroadenomas and diploid and aneuploid carcinomas.
Cancer Res. 1995; 55(22):5415-5423 [OPEN ACCESS]
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** Speicher, MR Microsatellite instability in human cancer.
Oncol Res. 1995; 7(6):267-275
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** Speicher, MR; Jauch, A; Walt, H; du Manoir, S; Ried, T; Jochum, W; Sulser, T; Cremer, T Correlation of microscopic phenotype with genotype in a formalin-fixed, paraffin-embedded testicular germ cell tumor with universal DNA amplification, comparative genomic hybridization, and interphase cytogenetics.
Am J Pathol. 1995; 146(6):1332-1340 [OPEN ACCESS]
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Abstract (Journal)

** DIETZEL, S; EILS, R; SCHROCK, E; RIED, T; SPEICHER, MR; BERTIN, E; ROBERTNICOUD, M; CREMER, C; CREMER, T ACTIVE AND INACTIVE X-CHROMOSOME TERRITORIES CAN BE DISCRIMINATED BY SURFACE AND SHAPE BUT NOT BY VOLUME
J CELL BIOCHEM 1995 : 147-147.
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Note

** Speicher, MR; Howe, C; Crotty, P; du Manoir, S; Costa, J; Ward, DC Comparative genomic hybridization detects novel deletions and amplifications in head and neck squamous cell carcinomas.
Cancer Res. 1995; 55(5):1010-1013 [OPEN ACCESS]
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1994

Full paper/article (Journal)

** Bentz, M; Cabot, G; Moos, M; Speicher, MR; Ganser, A; Lichter, P; Döhner, H Detection of chimeric BCR-ABL genes on bone marrow samples and blood smears in chronic myeloid and acute lymphoblastic leukemia by in situ hybridization.
Blood. 1994; 83(7):1922-1928 Doi: 10.1182/blood.V83.7.1922.bloodjournal8371922 [OPEN ACCESS]
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** Ried, T; Petersen, I; Holtgreve-Grez, H; Speicher, MR; Schröck, E; du Manoir, S; Cremer, T Mapping of multiple DNA gains and losses in primary small cell lung carcinomas by comparative genomic hybridization.
Cancer Res. 1994; 54(7):1801-1806 [OPEN ACCESS]
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** Schröck, E; Thiel, G; Lozanova, T; du Manoir, S; Meffert, MC; Jauch, A; Speicher, MR; Nürnberg, P; Vogel, S; Jänisch, W Comparative genomic hybridization of human malignant gliomas reveals multiple amplification sites and nonrandom chromosomal gains and losses.
Am J Pathol. 1994; 144(6):1203-1218 [OPEN ACCESS]
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** Speicher, MR; Prescher, G; du Manoir, S; Jauch, A; Horsthemke, B; Bornfeld, N; Becher, R; Cremer, T Chromosomal gains and losses in uveal melanomas detected by comparative genomic hybridization.
Cancer Res. 1994; 54(14):3817-3823 [OPEN ACCESS]
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** Speicher, MR; Schoell, B; du Manoir, S; Schröck, E; Ried, T; Cremer, T; Störkel, S; Kovacs, A; Kovacs, G Specific loss of chromosomes 1, 2, 6, 10, 13, 17, and 21 in chromophobe renal cell carcinomas revealed by comparative genomic hybridization.
Am J Pathol. 1994; 145(2):356-364 [OPEN ACCESS]
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1993

Full paper/article (Journal)

** Cremer, T; Kurz, A; Zirbel, R; Dietzel, S; Rinke, B; Schröck, E; Speicher, MR; Mathieu, U; Jauch, A; Emmerich, P; Scherthan, H; Ried, T; Cremer, C; Lichter, P Role of chromosome territories in the functional compartmentalization of the cell nucleus.
Cold Spring Harb Symp Quant Biol. 1993; 58(6):777-792 Doi: 10.1101/SQB.1993.058.01.085
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** du Manoir, S; Speicher, MR; Joos, S; Schröck, E; Popp, S; Döhner, H; Kovacs, G; Robert-Nicoud, M; Lichter, P; Cremer, T Detection of complete and partial chromosome gains and losses by comparative genomic in situ hybridization.
Hum Genet. 1993; 90(6):590-610 Doi: 10.1007/BF00202476
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** Joos, S; Scherthan, H; Speicher, MR; Schlegel, J; Cremer, T; Lichter, P Detection of amplified DNA sequences by reverse chromosome painting using genomic tumor DNA as probe.
Hum Genet. 1993; 90(6):584-589 Doi: 10.1007/BF00202475
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** Lengauer, C; Speicher, MR; Popp, S; Jauch, A; Taniwaki, M; Nagaraja, R; Riethman, HC; Donis-Keller, H; D'Urso, M; Schlessinger, D Chromosomal bar codes produced by multicolor fluorescence in situ hybridization with multiple YAC clones and whole chromosome painting probes.
Hum Mol Genet. 1993; 2(5):505-512 Doi: 10.1093/hmg/2.5.505 [OPEN ACCESS]
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** Popp, S; Jauch, A; Schindler, D; Speicher, MR; Lengauer, C; Donis-Keller, H; Riethman, HC; Cremer, T A strategy for the characterization of minute chromosome rearrangements using multiple color fluorescence in situ hybridization with chromosome-specific DNA libraries and YAC clones.
Hum Genet. 1993; 92(6):527-532 Doi: 10.1007/BF00420933
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** Speicher, MR; du Manoir, S; Schröck, E; Holtgreve-Grez, H; Schoell, B; Lengauer, C; Cremer, T; Ried, T Molecular cytogenetic analysis of formalin-fixed, paraffin-embedded solid tumors by comparative genomic hybridization after universal DNA-amplification.
Hum Mol Genet. 1993; 2(11):1907-1914 Doi: 10.1093/hmg/2.11.1907 [OPEN ACCESS]
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** Speicher, MR; Jauch, A; Parr, A; Becher, R Delineation of translocation t(15; 17) in acute promyelocytic leukemia by chromosomal in situ suppression hybridization.
Leuk Res. 1993; 17(4):359-364 Doi: 10.1016/0145-2126(93)90024-F
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** Taniwaki, M; Speicher, MR; Lengauer, C; Jauch, A; Popp, S; Cremer, T Characterization of two marker chromosomes in a patient with acute nonlymphocytic leukemia by two-color fluorescence in situ hybridization.
Cancer Genet Cytogenet. 1993; 70(2):99-102 Doi: 10.1016/0165-4608(93)90175-L (- Case Report) [OPEN ACCESS]
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1992

Full paper/article (Journal)

** Lengauer, C; Riethman, HC; Speicher, MR; Taniwaki, M; Konecki, D; Green, ED; Becher, R; Olson, MV; Cremer, T Metaphase and interphase cytogenetics with Alu-PCR-amplified yeast artificial chromosome clones containing the BCR gene and the protooncogenes c-raf-1, c-fms, and c-erbB-2.
Cancer Res. 1992; 52(9):2590-2596 [OPEN ACCESS]
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