Stephan Ossowski

Universitat Autònoma de Barcelona — Spain

Biochemistry, Genetics and Molecular Biology · Life Sciences

62h-index27.9kcitations271works6.22yr avg
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Research Topics

Cancer Genomics and Diagnostics(61), Genomics and Rare Diseases(37), Genomics and Phylogenetic Studies(31), Chromosomal and Genetic Variations(27), Genomic variations and chromosomal abnormalities(21)

Publications229 total

Multi-Omics Tumor Immunogenicity Score Predicts Immunotherapy Outcome and Survival
Biology·2025Open Access
Distinct genomic profile of pediatric lung carcinoma: High frequency of ALK fusions and TP53 mutations compared to adults
Lung Cancer·2025· 1 citedOpen Access
Germany’s national genomDE strategy
Nature Medicine·2025· 2 cited
P05.19.A CLINICAL OUTCOME OF BIOMARKER-GUIDED THERAPIES IN ADULT NEURO-ONCOLOGY PATIENTS: AN UPDATE FROM THE TÜBINGEN MOLECULAR TUMOR BOARD COHORT
Neuro-Oncology·2025Open Access
aiDIVA – Diagnostics of Rare Genetic Diseases Using Large Language Models
2025Open Access
GeneBits: ultra-sensitive tumour-informed ctDNA monitoring of treatment response and relapse in cancer patients
Journal of Translational Medicine·2025· 1 citedOpen Access
Adjuvant anti-PD-1 therapy improves melanoma-specific survival in stage IIIC-IV melanoma patients with high tumor mutation burden and BRAF V600 mutation
Frontiers in Oncology·2025Open Access
Phenotypic spectrum of cardiac conduction disturbance and cardiomyopathy linked to titin canonical splice-site variants
Cardiovascular Research·2025· 2 cited
Long-read RNA-sequencing reveals transcript-specific regulation in human-derived cortical neurons
Open Biology·2025· 2 citedOpen Access
Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
Nature Medicine·2025Open Access
Genome-wide discovery of enhancer – promoter interactions in the human pancreas using an improved Activity-By-Contact-based model
Pancreatology·2025
Ultra-deep long-read metagenomics captures diverse taxonomic and biosynthetic potential of soil microbes
2025· 1 citedOpen Access
Long-Read Sequencing Identifies Mosaic Sequence Variations in Friedreich’s Ataxia-GAA Repeats
International Journal of Molecular Sciences·2025Open Access
Chemotherapy-free neoadjuvant pembrolizumab combined with trastuzumab and pertuzumab in HER2-enriched early breast cancer (WSG-KEYRICHED-1): a single-arm, phase 2 trial
The Lancet Oncology·2025· 4 cited
Case Report: FGFR2 inhibitor resistance via PIK3CA and CDKN2A/B in an intrahepatic cholangiocarcinoma patient with FGFR2-SH3GLB1 fusion
Frontiers in Oncology·2025· 2 citedOpen Access
Correction: Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes
European Journal of Human Genetics·2025Open Access
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing
Genome Research·2025· 16 citedOpen Access
Melanoma-specific survival and relapse-free survival are significantly improved for tumors with high tumor mutational burden and BRAF V600 mutation – results of 83 stage IIIC-IV patients with adjuvant anti-PD-1 therapy
EJC Skin Cancer·2025Open Access
Ultra-deep long-read metagenomics captures diverse taxonomic and biosynthetic potential of soil microbes
GigaScience·2025Open Access
Systematic assessment of COVID-19 host genetics using whole genome sequencing data
PLoS Pathogens·2024· 1 citedOpen Access
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Frequent Co-authors

Detlef Weigel(22), Korbinian Schneeberger(16), Xavier Estivill(9), Norman Warthmann(8), Daniela Bezdan(8), Christa Lanz(7), Jun Cao(6), Kadir C. Akdemir(6), Gunnar Rätsch(6), Richard M. Clark(5), Isidro Cortés‐Ciriano(5), Peter J. Park(5), Luís Zapata(5), Joffrey Fitz(4), Yilong Li(4), Nicola D. Roberts(4), Jeremiah A. Wala(4), Steven E. Schumacher(4), Jan O. Korbel(4), James E. Haber(4)