Stanislav Rosnev
A5001850575- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Immune Cell Function and Interaction
- Cancer Immunotherapy and Biomarkers
- Biomedical Text Mining and Ontologies
- Cancer Genomics and Diagnostics
- Bioinformatics and Genomic Networks
- RNA regulation and disease
- Ocular Oncology and Treatments
- Immunotherapy and Immune Responses
- Colorectal Cancer Treatments and Studies
- Monoclonal and Polyclonal Antibodies Research
- Chronic Lymphocytic Leukemia Research
- Retinal Development and Disorders
- Cutaneous Melanoma Detection and Management
- Phagocytosis and Immune Regulation
- SARS-CoV-2 and COVID-19 Research
- Radiomics and Machine Learning in Medical Imaging
- COVID-19 Clinical Research Studies
- T-cell and B-cell Immunology
- CAR-T cell therapy research
Humboldt-Universität zu Berlin
2018-2025
Freie Universität Berlin
2018-2025
Charité - Universitätsmedizin Berlin
2018-2025
Berlin Institute of Health at Charité - Universitätsmedizin Berlin
2022-2025
PurposePhenotype information is crucial for the interpretation of genomic variants. So far it has only been accessible bioinformatics workflows after encoding into clinical terms by expert dysmorphologists.MethodsHere, we introduce an approach driven artificial intelligence that uses portrait photographs exome data. We measured value added computer-assisted image analysis to diagnostic yield on a cohort consisting 679 individuals with 105 different monogenic disorders. For each case in...
Highlights•Incidence of peritoneal metastases in metastatic uveal melanoma (mUM) is 4.27%.•Peritoneal mUM patients have no negative impact on prognosis.•Metastatic pattern with initial extrahepatic spread correlates favorable OS.•Tumor biology reflected by TMB and genetic risk groups determines pattern.•Patients may specifically benefit from ICB.AbstractBackgroundMetastatic an aggressive cancer predominately affecting the liver. Peritoneal (PM) occur rarely, there limited knowledge about...
Abstract Many rare syndromes can be well described and delineated from other disorders by a combination of characteristic symptoms. These phenotypic features are best documented with terms the Human Phenotype Ontology (HPO), which increasingly used in electronic health records (EHRs), too. algorithms that perform HPO-based gene prioritization have also been developed; however, performance many such tools suffers an over-representation atypical cases medical literature. This is certainly case...
Immune checkpoint inhibitors (ICI) represented a step forward in improving the outcome of patients with various refractory solid tumors and several therapeutic regimens incorporating ICI have already been approved for variety tumor entities. However, besides remarkable long-term responses, inhibition can trigger severe immune-related adverse events some patients. In order to improve safety as well T cell therapy, we tested feasibility combining cell-based immunotherapy genetic disruption...
Abstract Despite extensive research on severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2) vaccination responses in healthy individuals, there is comparatively little known beyond antibody titers and T‐cell the vulnerable cohort of patients after allogeneic hematopoietic stem cell transplantation (ASCT). In this study, we assessed serological response performed longitudinal multimodal analyses including functionality single‐cell RNA sequencing combined with T receptor (TCR)/B (BCR)...
Abstract Many rare syndromes can be well described and delineated from other disorders by a combination of characteristic symptoms. These phenotypic features are best documented with terms the human phenotype ontology (HPO), which is increasingly used in electronic health records (EHRs), too. algorithms that perform HPO-based gene prioritization have also been developed, however, performance many such tools suffers an overrepresentation atypical cases medical literature. This certainly case...
Abstract A large fraction of monogenic disorders causes craniofacial abnormalities with characteristic facial morphology. These can be diagnosed more efficiently the support computer-aided next-generation phenotyping tools, such as DeepGestalt. tools have learned to associate phenotypes underlying syndrome through training on thousands patient photographs. However, this “supervised” approach means that diagnoses are only possible if disorder was part set. To improve recognition ultra-rare...
Abstract Phenotype information is crucial for the interpretation of genomic variants. So far it has only been accessible bioinformatics workflows after encoding into clinical terms by expert dysmorphologists. Here, we introduce an approach, driven artificial intelligence that uses portrait photographs exome data. We measured value added computer-assisted image analysis to diagnostic yield on a cohort consisting 679 individuals with 105 different monogenic disorders. For each case in compiled...
Antibody-dependent cell-mediated cytotoxicity (ADCC) by NK cells is a key mechanism in anti-cancer therapies with monoclonal antibodies, including cetuximab (EGFR-targeting) and avelumab (PDL1-targeting). Fc gamma receptor IIIa (FcγRIIIa) polymorphisms impact ADCC, yet their clinical relevance cell functionality remains debated. We developed two complementary flow cytometry assays: one to predict the FcγRIIIa-V158F polymorphism using machine learning model, 15-color panel assess...