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0000-0003-1900-6923
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A morphomolecular study of 175 'USP6‐associated neoplasms’ : the USP6 fusion partner strongly depends on morphology and location
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Non-invasive cell-free DNA methylation profiling of pregnant women for the diagnosis and early risk determination of preeclampsia
(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 2). p.869-870 -
- Journal Article
- A1
- open access
Advancing diagnosis and early risk assessment of preeclampsia through noninvasive cell-free DNA methylation profiling
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Benchmarking of long read structural variant callers using Oxford Nanopore data
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Benchmarking of long-read structural variant callers using in-house generated Oxford Nanopore data
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Benchmarking of long-read structural variant callers using Oxford Nanopore data
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Benchmarking of long-read structural variant callers using Oxford Nanopore data
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- Journal Article
- A1
- open access
Application of an ultrasensitive NGS-based blood test for the diagnosis of early-stage lung cancer : sensitivity, a hurdle still difficult to overcome
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Shallow whole-genome sequencing : a useful, easy to apply molecular technique for CNA detection on FFPE tumor tissue : a glioma-driven study
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- Journal Article
- A1
- open access
Undifferentiated sarcoma of bone with a round to epithelioid cell phenotype harboring a novel EWSR1-SSX2 fusion identified by RNA-based next-generation sequencing