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Author Details

Stephan Ossowski
Institute of Medical Genetics and Applied Genomics, University of Tubingen
2006
110
40
PMIDPaper TitleJournal TitlePublished Year
37734845Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases.J Med Genet2024
34740919Bi-allelic loss-of-function variants in <i>KIF21A</i> cause severe fetal akinesia with arthrogryposis multiplex.J Med Genet2023
37716236UV-radiation and MC1R germline mutations are risk factors for the development of conventional and spitzoid melanomas in children and adolescents.EBioMedicine2023
37507557Clinical trio genome sequencing facilitates the interpretation of variants in cancer predisposition genes in paediatric tumour patients.Eur J Hum Genet2023
37650884Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.Genet Med2023
37124042Whole genome analysis of two sympatric human <i>Mansonella</i>: <i>Mansonella perstans</i> and <i>Mansonella</i> sp "DEUX".Front Cell Infect Microbiol2023
37080557Creation of a structured molecular genomics report for Germany as a local adaption of HL7's Genomic Reporting Implementation Guide.J Am Med Inform Assoc2023
37280276The German Network for Personalized Medicine to enhance patient care and translational research.Nat Med2023
36973448Detection of circulating cell-free HPV DNA of 13 HPV types for patients with cervical cancer as potential biomarker to monitor therapy response and to detect relapse.Br J Cancer2023
37271829First case of adult onset neuronal intranuclear inclusion disease with both typical radiological signs and NOTCH2NLC repeat expansions in a Caucasian individual.Eur J Neurol2023
36915613Clinical outcome of biomarker-guided therapies in adult patients with tumors of the nervous system.Neurooncol Adv2023
36760167Genome sequencing identifies complex structural MLH1 variant in unsolved Lynch syndrome.Mol Genet Genomic Med2023
36495689Germline findings in patients with advanced malignancies screened with paired blood-tumour testing for personalised treatment approaches.Eur J Cancer2023
35192052TMB and BRAF mutation status are independent predictive factors in high-risk melanoma patients with adjuvant anti-PD-1 therapy.J Cancer Res Clin Oncol2023
36327219Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.PLoS Genet2022
35574990A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomalies.Prenat Diagn2022
35597955Exome-wide analysis of copy number variation shows association of the human leukocyte antigen region with asthma in UK Biobank.BMC Med Genomics2022
33318652Efficient hybrid de novo assembly of human genomes with WENGAN.Nat Biotechnol2021
34944839Characterization of Genetic Heterogeneity in Recurrent Metastases of Renal Cell Carcinoma.Cancers (Basel)2021
34901436Transcript-Specific Loss-of-Function Variants in <i>VPS16</i> Are Enriched in Patients With Dystonia.Neurol Genet2021
34491624Detection of mobile elements insertions for routine clinical diagnostics in targeted sequencing data.Mol Genet Genomic Med2021
34514393CADA: phenotype-driven gene prioritization based on a case-enriched knowledge graph.NAR Genom Bioinform2021
34042264New euchromatic variant dup(11)(p15.3p15.1) transmitted through two generations defined by low coverage whole genome sequencing.Am J Med Genet A2021
34040261Swarm Learning for decentralized and confidential clinical machine learning.Nature2021
34025350Environmental Enrichment Induces Epigenomic and Genome Organization Changes Relevant for Cognition.Front Mol Neurosci2021
33974636Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1.PLoS One2021
34163463Absence of Non-Canonical, Inhibitory <i>MYD88</i> Splice Variants in B Cell Lymphomas Correlates With Sustained NF-κB Signaling.Front Immunol2021
34022130Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder.Am J Hum Genet2021
32375941Description of <i>Citrobacter cronae</i> sp. nov., isolated from human rectal swabs and stool samples.Int J Syst Evol Microbiol2020
31799703The IL-2RG R328X nonsense mutation allows partial STAT-5 phosphorylation and defines a critical region involved in the leaky-SCID phenotype.Clin Exp Immunol2020
33116115Nuclear gene proximity and protein interactions shape transcript covariations in mammalian single cells.Nat Commun2020
33072739Comparative Transcriptional Profiling of Motor Neuron Disorder-Associated Genes in Various Human Cell Culture Models.Front Cell Dev Biol2020
33097556CHIP mutations affect the heat shock response differently in human fibroblasts and iPSC-derived neurons.Dis Model Mech2020
32687856Dynamics of cell-free tumour DNA correlate with treatment response of head and neck cancer patients receiving radiochemotherapy.Radiother Oncol2020
32825510Distinct Mutation Patterns Reveal Melanoma Subtypes and Influence Immunotherapy Response in Advanced Melanoma Patients.Cancers (Basel)2020
32817379Tracking of Antibiotic Resistance Transfer and Rapid Plasmid Evolution in a Hospital Setting by Nanopore Sequencing.mSphere2020
32211941PET/MRI and genetic intrapatient heterogeneity in head and neck cancers.Strahlenther Onkol2020
32110946MDM2, MDM4 and EGFR Amplifications and Hyperprogression in Metastatic Acral and Mucosal Melanoma.Cancers (Basel)2020
32460841The rate and spectrum of mosaic mutations during embryogenesis revealed by RNA sequencing of 49 tissues.Genome Med2020
30353964Allele balance bias identifies systematic genotyping errors and false disease associations.Hum Mutat2019
31920950Single Molecule Molecular Inversion Probes for High Throughput Germline Screenings in Dystonia.Front Neurol2019
31395037Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women.BMC Cancer2019
31364185A rash in a hairy situation: Leukocytoclastic vasculitis at presentation of hairy cell Leukemia.Am J Hematol2019
31123786Radiogenomics in head and neck cancer: correlation of radiomic heterogeneity and somatic mutations in TP53, FAT1 and KMT2D.Strahlenther Onkol2019
30872671Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis.Sci Rep2019
29412174Whole-genome sequencing enabling the detection of a colistin-resistant hypermutating Citrobacter werkmanii strain harbouring a novel metallo-β-lactamase VIM-48.Int J Antimicrob Agents2018
30097252Circulating cell-free DNA: A potential biomarker to differentiate inflammation and infection during radiochemotherapy.Radiother Oncol2018
29855388Negative selection in tumor genome evolution acts on essential cellular functions and the immunopeptidome.Genome Biol2018
29893918Tissue-specific DNA methylation loss during ageing and carcinogenesis is linked to chromosome structure, replication timing and cell division rates.Nucleic Acids Res2018
30386343LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy.Front Immunol2018
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Collaborators

Sidra Medical Center
Co-authored papers 16
Institute of Medical Genetics and Applied Genomics, University of Tubingen
Co-authored papers 7
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Co-authored papers 4
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Co-authored papers 4
Interfaculty Institute for Cell Biology.
Co-authored papers 4
ETH Zurich
Co-authored papers 3
Max Planck Institute for Developmental Biology
Co-authored papers 3
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Co-authored papers 3
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Signaling Research Centers CIBSS and BIOSS, University of Freiburg
Co-authored papers 2
Institute of Neurology, University College London (UCL)
Co-authored papers 2
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Spain Universitat de Barcelona (UB)
Co-authored papers 2
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University Hospital Tubingen, Eberhard-Karls-University Tubingen
Co-authored papers 2
Co-authored papers 2
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The Salk Institute for Biological Studies
Co-authored papers 2
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Institute for Biomedical Research August Pi I Sunyer
Co-authored papers 2
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Eberhard Karls University of Tuebingen
Co-authored papers 2
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Co-authored papers 2
Instituto Universitario de Oncologia, Universidad de Oviedo
Co-authored papers 2
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Co-authored papers 1
Chulalongkorn University
Co-authored papers 1