Publications by authors named "Stephan Ossowski"

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Germany's national genomDE strategy.
Andreas Till, Roman A Siddiqui, Christian Altbürger, Ronald Schwarz, Tatjana Huebner, Stephan Ossowski

Nat Med· December 2025

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Distinct genomic profile of pediatric lung carcinoma: High frequency of ALK fusions and TP53 mutations compared to adults.
Michael Abele, Anton Karelin, Michaela Pogoda, Ulrike Faust, Sorin Armeanu-Ebinger, Stephan Ossowski

Lung Cancer· November 2025

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Phenotypic spectrum of cardiac conduction disturbance and cardiomyopathy linked to titin canonical splice-site variants.
Taisuke Ishikawa, Hiroki Kimoto, Akiko Seki, Manabu Shirai, Kenta Uto, Stephan Ossowski

Cardiovasc Res· September 2025

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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 mutation.
Julia Forschner, Julia Huynh, Christopher Schroeder, Sorin Armeanu-Ebinger, Olga Seibel-Kelemen, Stephan Ossowski

Front Oncol· September 2025

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Clinical genome sequencing in patients with hereditary breast and ovarian cancer: Concept, implementation and benefits.
Dennis Witt, Marc Sturm, Antje Stäbler, Benita Menden, Lisa Ruisinger, Stephan Ossowski

Breast· August 2025

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Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Steven Laurie, Wouter Steyaert, Elke de Boer, Kiran Polavarapu, Nika Schuermans, Stephan Ossowski

Nat Med· August 2025

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Genome-wide discovery of enhancer - promoter interactions in the human pancreas using an improved Activity-By-Contact-based model.
Andreas W Schmidt, German Demidov, Ferdinand Krannich, Matthias Heinig, Stephan Ossowski

Pancreatology· August 2025

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GeneBits: ultra-sensitive tumour-informed ctDNA monitoring of treatment response and relapse in cancer patients.
Julian Broche, Olga Kelemen, Aishwarya Sekar, Leon Schütz, Francesc Muyas, Stephan Ossowski

J Transl Med· August 2025

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Single-cell RNA-sequencing highlights a curtailed NK cell function in convalescent COVID-19 pregnant women.
Madhuri S Salker, Nor Haslinda Abd Aziz, Natalia Carman Prodan, Zhiqi Yang, Aditya Kumar Lankapalli, Stephan Ossowski

Front Immunol· July 2025

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Long-read RNA-sequencing reveals transcript-specific regulation in human-derived cortical neurons.
Jishu Xu, Michaela Hörner, Elena Buena Atienza, Kalaivani Manibarathi, Maike Nagel, Stephan Ossowski

Open Biol· July 2025

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Chemotherapy-free neoadjuvant pembrolizumab combined with trastuzumab and pertuzumab in HER2-enriched early breast cancer (WSG-KEYRICHED-1): a single-arm, phase 2 trial.
Sherko Kuemmel, Monika Graeser, Peter Schmid, Mattea Reinisch, Friedrich Feuerhake, Stephan Ossowski

Lancet Oncol· May 2025

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sc-MULTI-omics approach in nano-rare diseases: understanding the pathophysiological mechanism of Mulvihill-Smith Syndrome.
Angelika Riess, Cristiana Roggia, Antje Schulze Selting, Vladislav Lysenkov, Stephan Ossowski

Funct Integr Genomics· May 2025

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Long-Read Sequencing Identifies Mosaic Sequence Variations in Friedreich's Ataxia-GAA Repeats.
Joohyun Park, Claudia Dufke, Zofia Fleszar, Michael Schlotterbek, Elena Buena-Atienza, Stephan Ossowski

Int J Mol Sci· May 2025

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Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing.
Wouter Steyaert, Lydia Sagath, German Demidov, Vicente A Yépez, Anna Esteve-Codina, Stephan Ossowski

Genome Res· April 2025

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Correction: Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes.
German Demidov, Steven Laurie, Annalaura Torella, Giulio Piluso, Marcello Scala, Stephan Ossowski

Eur J Hum Genet· April 2025

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Case Report: FGFR2 inhibitor resistance via and in an intrahepatic cholangiocarcinoma patient with fusion.
Nadja Ballin, Alexander Ott, Olga Seibel-Kelemen, Irina Bonzheim, Dominik Nann, Stephan Ossowski

Front Oncol· April 2025

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Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Steven Laurie, Wouter Steyaert, Elke de Boer, Kiran Polavarapu, Nika Schuermans, Stephan Ossowski

Nat Med· February 2025

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AI Model for Predicting Anti-PD1 Response in Melanoma Using Multi-Omics Biomarkers.
Axel Gschwind, Stephan Ossowski

Cancers (Basel)· February 2025

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Tumor sequencing before and after neoadjuvant chemoradiotherapy in locally advanced rectal cancer: Genetic tumor characterization and clinical outcome.
Kerstin Clasen, Nadja Ballin, Leon Schütz, Irina Bonzheim, Olga Kelemen, Stephan Ossowski

Clin Transl Radiat Oncol· January 2025

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Ultra-deep long-read metagenomics captures diverse taxonomic and biosynthetic potential of soil microbes.
Caner Bağcı, Timo Negri, Elena Buena-Atienza, Caspar Gross, Stephan Ossowski

Gigascience· January 2025

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Systematic assessment of COVID-19 host genetics using whole genome sequencing data.
Axel Schmidt, Nicolas Casadei, Fabian Brand, German Demidov, Elaheh Vojgani, Stephan Ossowski

PLoS Pathog· December 2024

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Dynamics of cell-free tumor DNA correlate with early MRI response during chemoradiotherapy in rectal cancer.
Kerstin Clasen, Cihan Gani, Leon Schuetz, Stephan Clasen, Nadja Ballin, Stephan Ossowski

Radiat Oncol· November 2024

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Author Correction: The European Reference Genome Atlas: piloting a decentralised approach to equitable biodiversity genomics.
Ann M Mc Cartney, Giulio Formenti, Alice Mouton, Diego De Panis, Luísa S Marins, Stephan Ossowski

NPJ Biodivers· October 2024

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Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
German Demidov, Burcu Yaldiz, José Garcia-Pelaez, Elke de Boer, Nika Schuermans, Stephan Ossowski

NPJ Genom Med· October 2024

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Isolated prolapse of the posterior mitral valve leaflet: phenotypic refinement, heritability and genetic etiology.
Antoine Rimbert, Damien Duval, Daniel Trujillano, Florence Kyndt, Antoine Jobbe-Duval, Stephan Ossowski

medRxiv· October 2024

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