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Stephan Ossowski

Institute of Medical Genetics and Applied Genomics

62H-index
285Paper Count
2.8WCitation Count
Published Papers 96
Publication Date
Polymorphic marker regions support divergence of Mansonella sp. “DEUX” and M. perstans
err2026-04-27
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errMara Fischer; Miriam Rodi; Prithivi Jung Thapa; Capucine Marie Sicard; Juliana Inoue; Lilith Berner; Pierre Blaise Matsiegui; Carsten Köhler; Andrea Kreidenweiss; Michael Ramharter; Selidji Todagbe Agnandji; Stephan Ossowski; Jana Held
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Genetic landscape of stage II melanoma identifies CBL as a new driver gene and prognostic biomarker
err2026-04-09
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errElena Sophia Lindner; Jakob Admard; German Demidov; Sorin Armeanu-Ebinger; Tobias Sinnberg; Heike Niessner; Teresa Amaral; Claus Garbe; Andrea Forschner; Olga Kelemen; Franz Joachim Hilke; Irina Bonzheim; Martin Röcken; Olaf Rieß; Stephan Ossowski; Christopher Schroeder
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Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia
err2026-02-14
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errBenita Menden; Rana D. Incebacak Eltemur; German Demidov; Marc Sturm; Joohyun Park; Chrisovalantou Huridou; Florian Fath; Astrid Nümann; Alexander Baumann; Illja J. Diets; Claudia Dufke; Martin Regensburger; Maria Rönnefarth; Vera Wilke; Nienke van Os; Stefan Vielhaber; Tim W. Rattay; Zacharias Kohl; Susana Peralta; Priscila Pereira Sena; Melanie Kellner; Nadine Weissert; Andreas Traschütz; Lena Zeltner; Kai Boelmans; Natalie Deininger; Leon Schütz; Caspar Gross; Ana Beatriz Hinojosa Amaya; Katrin Raupach; Holger Hengel; Florian Harmuth; Jakob Admard; Ingrid Bader; Sarah Baumann; Friedemann Bender; Andrea Bevot; Almut Bischoff; Felix Boschann; Rebecca Buchert; Daniel Buchzik; Nicolas Casadei; Claudia B. Catarino; Isabell Cordts; Kirsten Cremer; Marion Doebler-Neumann; Nadja Ehmke; Miriam Elbracht; Ruth J. Falb; Thomas Feindt; Zofia Fleszar; Lea Gerstner; Dieter Gläser; Ute Grasshoff; Sarah Grosch; Kathrin Grundmann; Alexander Gutschalk; Manja Haaga; Stefanie Hayer; Ute Hehr; Yorck Hellenbroich; Wolfram Henn; Barbara Herr; Rebecca Herzog; Veronka Horber; Jonas Deppe; Nadja Kaiser; Christiane Kehrer; Martin Kehrer; Jan Kern; Christoph Keßler; Katharina Khuller; Hannah Klinkhammer; Urania Kotzaeridou; Peter Krawitz; Martina Kreiss; Hanna Küpper; Alice Kuster; Lucia Laugwitz; Anne Lesemann; Nadine Lichey; Tobias Linden; Boris Macek; Janine Magg; Elisabeth Mangold; Eva Manka; Iris Marquardt; Karl Mehnert; David Mengel; Susanne Morlot; Barbara Oehl-Jaschkowitz; Martje G. Pauly; Melanie Philipp; Florentine Radelfahr; Maren Rautenberg; Angelika Riess; Carsten Saft; Beate Schlotter-Weigel; Axel Schmidt; Eva M. C. Schwaibold; Veronika Spahlinger; Stephanie Spranger; Katharina Marie Steiner; Claudia Stendel; Andreas Thieme; Andreas Tzschach; Ana Velic; Sarah Wiethoff; Carlo Wilke; Stephan Züchner; Simone Zittel; Ralf A. Husain; Marcus Deschauer; Felix Distelmaier; Andreas Dufke; Holm Graessner; Bernhard Hemmer; Heike Jacobi; Thomas Klockgether; Thomas Klopstock; Xenia Kobeleva; Georg-Christoph Korenke; Alma Kuechler; Gregor Kuhlenbäumer; Ingo Kurth; Huu Phuc Nguyen; Gilbert Wunderlich; Kirsten E. Zeuner; Stephan Klebe; Michaela Auer-Grumbach; Michaela Butryn; Jürgen Winkler; Dagmar Timmann; Matthis Synofzik; Bart van de Warrenburg; Rebecca Schüle; Ludger Schöls; Stephan Ossowski; Olaf Riess; Jonasz J. Weber; Tobias B. Haack
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Distinct genomic profile of pediatric lung carcinoma: High frequency of ALK fusions and TP53 mutations compared to adults
err2025-10-20
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errOAAI
errMichael Abele; Anton Karelin; Michaela Pogoda; Ulrike Faust; Sorin Armeanu-Ebinger; Jakob Admard; Alexandra Liebmann; Irina Bonzheim; Nicolas Waespe; Margo Hoover-Regan; Andreas Block; Martin Reck; Ewa Bien; Malgorzata Krawczyk; Dominik T. Schneider; Stephan Ossowski; Ines B. Brecht; Christopher Schroeder
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Germany’s national genomDE strategy
err2025-10-15
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PREAI
errAndreas Till; Roman A. Siddiqui; Christian Altbürger; Ronald Schwarz; Tatjana Huebner; Jürgen Wolf; Dorothee Andres; Anika Anker; Stefan Aretz; Tobias B. Haack; Thomas Berlage; Dieter Beule; Melanie Boerries; Ivo Buchhalter; Jens Bussmann; Christoph Engel; Juliane Friedrichs; Stefan Fröhling; Britta Haenisch; Andrea Hahne; Daniel Hübschmann; Friedrich von Kessel; Rudolf Klatt; Simon Kreutzfeldt; Anna Kron; Heiko Krude; Anna Lübbe; Uwe Lührig; Nisar Malek; Christian Mertes; Yvonne Möller; Christine Mundlos; Markus M. Nöthen; Stephan Ossowski; Luca Pötschke; Anna Rasokat; Olaf Riess; Sophia Schade; Peter Schirmacher; Rita Schmutzler; Catharina Scholl; Sebastian C. Semler; Malte Spielmann; Oliver Stegle; Albrecht Stenzinger; Jana Straßburger; Evelin Schröck; Michael Krawczak; Oliver Kohlbacher
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CLINICAL OUTCOME OF BIOMARKER-GUIDED THERAPIES IN ADULT NEURO-ONCOLOGY PATIENTS: AN UPDATE FROM THE TÜBINGEN MOLECULAR TUMOR BOARD COHORT
err2025-10-01
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errRieger, D.; Becker, H.; Walter, B.; Doerner, L.; Kurz, S.; Gani, C.; Neumann, M.; Riess, O.; Schroeder, C.; Ossowski, S.; Fend, F.; Singer, S.; Nahnsen, S.; Ernemann, U.; Sundberg-Malek, H.; Schittenhelm, J.; Bitzer, M.; Malek, N.; Tatagiba, M.; Renovanz, M.; Tabatabai, G.
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GeneBits: ultra-sensitive tumour-informed ctDNA monitoring of treatment response and relapse in cancer patients
err2025-08-28
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errJulian Broche; Olga Kelemen; Aishwarya Sekar; Leon Schütz; Francesc Muyas; Andrea Forschner; Christopher Schroeder; Stephan Ossowski
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Adjuvant anti-PD-1 therapy improves melanoma-specific survival in stage IIIC-IV melanoma patients with high tumor mutation burden and BRAF V600 mutation
err2025-08-13
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errJulia Forschner; Julia Huynh; Christopher Schroeder; Sorin Armeanu-Ebinger; Olga Seibel-Kelemen; Axel Gschwind; Irina Bonzheim; Thomas K. Eigentler; Teresa Amaral; Stephan Ossowski; Lukas Flatz; Claus Garbe; Andrea Forschner; Markus Reitmajer
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Genome-wide discovery of enhancer – promoter interactions in the human pancreas using an improved Activity-By-Contact-based model
err2025-06-09
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PREAI
errAndreas W. Schmidt; German Demidov; Ferdinand Krannich; Matthias Heinig; Stephan Ossowski; Heiko Witt; Jonas Rosendahl; Helmut Laumen
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Case Report: FGFR2 inhibitor resistance via PIK3CA and CDKN2A/B in an intrahepatic cholangiocarcinoma patient with FGFR2-SH3GLB1 fusion
err2025-04-07
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errBallin, Nadja; Ott, Alexander; Seibel-Kelemen, Olga; Bonzheim, Irina; Nann, Dominik; Beha, Janina; Spahn, Stephan; Singer, Stephan; Ossowski, Stephan; Roggia, Cristiana; Schroeder, Christopher; Bitzer, Michael; Armeanu-Ebinger, Sorin
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Dynamics of cell-free tumor DNA correlate with early MRI response during chemoradiotherapy in rectal cancer
err2024-11-06
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errClasen, Kerstin; Gani, Cihan; Schuetz, Leon; Clasen, Stephan; Ballin, Nadja; Bonzheim, Irina; Orth, Michael; Ossowski, Stephan; Riess, Olaf; Niyazi, Maximilian; Schroeder, Christopher; Kelemen, Olga
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Tumour-informed liquid biopsies to monitor advanced melanoma patients under immune checkpoint inhibition
err2024-10-09
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errSchroeder, Christopher; Gatidis, Sergios; Kelemen, Olga; Schuetz, Leon; Bonzheim, Irina; Muyas, Francesc; Martus, Peter; Admard, Jakob; Armeanu-Ebinger, Sorin; Gueckel, Brigitte; Kuestner, Thomas; Garbe, Claus; Flatz, Lukas; Pfannenberg, Christina; Ossowski, Stephan; Forschner, Andrea
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An interconnected data infrastructure to support large-scale rare disease research
err2024-09-20
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errJohansson, Lennart F.; Laurie, Steve; Spalding, Dylan; Gibson, Spencer; Ruvolo, David; Thomas, Coline; Piscia, Davide; de Andrade, Fernanda; Been, Gerieke; Bijlsma, Marieke; Brunner, Han; Cimerman, Sandi; Dizjikan, Farid Yavari; Ellwanger, Kornelia; Fernandez, Marcos; Freeberg, Mallory; van de Geijn, Gert-Jan; Kanninga, Roan; Maddi, Vatsalya; Mehtarizadeh, Mehdi; Neerincx, Pieter; Ossowski, Stephan; Rath, Ana; Roelofs-Prins, Dieuwke; Stok-Benjamins, Marloes; van der Velde, K. Joeri; Veal, Cohn; van der Vries, Gerben; Wadsley, Marc; Warren, Gregory; Zurek, Birte; Keane, Thomas; Graessner, Holm; Beltran, Sergi; Swertz, Morris A.; Brookes, Anthony J.
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Circulating tumor DNA (ctDNA) for prediction of pathologic complete response (pCR) after 12 weeks of pembrolizumab plus trastuzumab plus pertuzumab in HER2-enriched early breast cancer: WSG-Keyriched-1 trial
err2024-05-02
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PREAI
errGraeser, Monika; Kuemmel, Sherko; Gluz, Oleg; Schroeder, Christopher; Schuetz, Leon; Kelemen, Olga; Ossowski, Stephan; Jozwiak, Katarzyna; Reinisch, Mattea; Kostara, Athina; Scheffen, Iris; Ludtke-Heckenkamp, Kerstin; Hilpert, Felix; Kentsch, Angela; Ziske, Carsten; Depenbusch, Reinhard; Braun, Michael; Blohmer, Jens-Uwe; Christgen, Matthias; Bartels, Stephan; Kreipe, Hans-Heinrich; Pelz, Enrico; Nitz, Ulrike; Schmid, Peter; Harbeck, Nadia; Hartkopf, Andreas
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ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations
errBRAIN
IF11.7
err2024-02-22
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errLaugwitz, Lucia; Cheng, Fubo; Collins, Stephan C.; Hustinx, Alexander; Navarro, Nicolas; Welsch, Simon; Cox, Helen; Hsieh, Tzung-Chien; Vijayananth, Aswinkumar; Buchert, Rebecca; Bender, Benjamin; Efthymiou, Stephanie; Murphy, David; Zafar, Faisal; Rana, Nuzhat; Grasshoff, Ute; Falb, Ruth J.; Grimmel, Mona; Seibt, Annette; Zheng, Wenxu; Ghaedi, Hamid; Thirion, Marie; Couette, Sebastien; Azizimalamiri, Reza; Sadeghian, Saeid; Galehdari, Hamid; Zamani, Mina; Zeighami, Jawaher; Sedaghat, Alireza; Ramshe, Samira Molaei; Zare, Ali; Alipoor, Behnam; Klee, Dirk; Sturm, Marc; Ossowski, Stephan; Houlden, Henry; Riess, Olaf; Wieczorek, Dagmar; Gavin, Ryan; Maroofian, Reza; Krawitz, Peter; Yalcin, Binnaz; Distelmaier, Felix; Haack, Tobias B.
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Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors
err2023-11-22
err4
errOAAI
errAbdel-Salam, Ghada M. H.; Hellmuth, Susanne; Gradhand, Elise; Kaeseberg, Stephan; Winter, Jennifer; Pabst, Ann-Sophie; Eid, Maha M.; Thiele, Holger; Nuernberg, Peter; Budde, Birgit S.; Toliat, Mohammad Reza; Brecht, Ines B.; Schroeder, Christopher; Gschwind, Axel; Ossowski, Stephan; Haeuser, Friederike; Rossmann, Heidi; Abdel-Hamid, Mohamed S.; Hegazy, Ibrahim; Mohamed, Ahmed G.; Schneider, Dominik T.; Bertoli-Avella, Aida; Bauer, Peter; Pearring, Jillian N.; Pfundt, Rolph; Hoischen, Alexander; Gilissen, Christian; Strand, Dennis; Zechner, Ulrich; Tashkandi, Soha A.; Faqeih, Eissa A.; Stemmann, Olaf; Strand, Susanne; Bolz, Hanno J.
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Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples (Oct, 10.1038/s41431-023-01478-7, 2023)
err2023-11-16
err14
errOAAI
errWijngaard, Robin; Demidov, German; O'Gorman, Luke; Corominas-Galbany, Jordi; Yaldiz, Burcu; Steyaert, Wouter; de Boer, Elke; Vissers, Lisenka E. L. M.; Kamsteeg, Erik-Jan; Pfundt, Rolph; Swinkels, Hilde; den Ouden, Amber; te Paske, Iris B. A. W.; de Voer, Richarda M.; Faivre, Laurence; Denomme-Pichon, Anne-Sophie; Duffourd, Yannis; Vitobello, Antonio; Chevarin, Martin; Straub, Volker; Topf, Ana; van der Kooi, Anneke J.; Magrinelli, Francesca; Rocca, Clarissa; Hanna, Michael G.; Vandrovcova, Jana; Ossowski, Stephan; Laurie, Steven; Gilissen, Christian
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Multicentric pilot study to standardize clinical whole exome sequencing (WES) for cancer patients
err2023-10-20
err16
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errMenzel, Michael; Ossowski, Stephan; Kral, Sebastian; Metzger, Patrick; Horak, Peter; Marienfeld, Ralf; Boerries, Melanie; Wolter, Steffen; Ball, Markus; Neumann, Olaf; Armeanu-Ebinger, Sorin; Schroeder, Christopher; Matysiak, Uta; Goldschmid, Hannah; Schipperges, Vincent; Fuerstberger, Axel; Allgaeuer, Michael; Eberhardt, Timo; Niewoehner, Jakob; Blaumeiser, Andreas; Ploeger, Carolin; Haack, Tobias Bernd; Tay, Timothy Kwang Yong; Kelemen, Olga; Pauli, Thomas; Kirchner, Martina; Kluck, Klaus; Ott, Alexander; Renner, Marcus; Admard, Jakob; Gschwind, Axel; Lassmann, Silke; Kestler, Hans; Fend, Falko; Illert, Anna Lena; Werner, Martin; Moeller, Peter; Seufferlein, Thomas Theodor Werner; Malek, Nisar; Schirmacher, Peter; Froehling, Stefan; Kazdal, Daniel; Budczies, Jan; Stenzinger, Albrecht
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Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples
err2023-10-19
err14
errOAAI
errWijngaard, Robin; Demidov, German; O'Gorman, Luke; Corominas-Galbany, Jordi; Yaldiz, Burcu; Steyaert, Wouter; de Boer, Elke; Vissers, Lisenka E. L. M.; Kamsteeg, Erik-Jan; Pfundt, Rolph; Swinkels, Hilde; den Ouden, Amber; te Paske, Iris B. A. W.; de Voer, Richarda M.; Faivre, Laurence; Denomme-Pichon, Anne-Sophie; Duffourd, Yannis; Vitobello, Antonio; Chevarin, Martin; Straub, Volker; Toepf, Ana; van der Kooi, Anneke J.; Magrinelli, Francesca; Rocca, Clarissa; Hanna, Michael G.; Vandrovcova, Jana; Ossowski, Stephan; Laurie, Steven; Gilissen, Christian
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Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases
err2023-09-21
err31
errOAAI
errWeisschuh, Nicole; Mazzola, Pascale; Zuleger, Theresia; Schaeferhoff, Karin; Kuehlewein, Laura; Kortuem, Friederike; Witt, Dennis; Liebmann, Alexandra; Falb, Ruth; Pohl, Lisa; Reith, Milda; Stuehn, Lara G.; Bertrand, Miriam; Mueller, Amelie; Casadei, Nicolas; Kelemen, Olga; Kelbsch, Carina; Kernstock, Christoph; Richter, Paul; Sadler, Francoise; Demidov, German; Schuetz, Leon; Admard, Jakob; Sturm, Marc; Grasshoff, Ute; Tonagel, Felix; Heinrich, Tilman; Nasser, Fadi; Wissinger, Bernd; Ossowski, Stephan; Kohl, Susanne; Riess, Olaf; Stingl, Katarina; Haack, Tobias B.
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