Projects
Our research focuses on the understanding of the molecular basis and the pathogenesis of aortic aneurysms and related diseases.
Our goal is not only to find genetic causes but also to explore new therapeutic approaches according to the motto «from knowledge will come a cure». Furthermore, we develop and establish new molecular genetic methods and always use state-of-the-art technologies and science. The findings of our research are published in international scientific journals, communicated to students, and applied in gene diagnostics. » Mission statement (pdf)
» Selected scientific projects (since 2006) (pdf)
More information
► | ESHG 2021: Need for speed in whole-genome sequencing data analysis: Benchmarking the new generation of alignment and variant calling tools |
► | ESHG 2021: New uses for old drugs: Added value of celiprolol and pravastatin in vascular EDS »»» Video (mp4) |
► | GenTAC Aortic Summit 2020: Clinical whole-genome sequencing: Co-occurring fibrillinopathies and pharmacogenetic profiling |
► | GenTAC Aortic Summit 2020: Novel approach reveals celiprolol but not losartan and bisoprolol as medical therapy of choice in vascular Ehlers-Danlos syndrome |
► | ESHG 2020: Added value of clinical whole-genome sequencing |
► | ESHG 2020: Medical therapy of vascular Ehlers-Danlos syndrome |
► | ESHG 2018: High-throughput sequencing of Mendelian disorders |
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ESHG 2017: Need for speed in HTS data analysis |
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Biocompare 2017: Boosting sequencing efficiency |
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ESHG 2016: Clinical sequencing: WGS is the better WES |
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Biocompare 2015: Looking for CNVs by NGS: Pare Me Down |
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ESHG 2015: Assessment of the mechanical stability of the aorta in a mouse model |
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ESHG 2014: Evaluation of three sequence capture platforms for whole exome sequencing |
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ESHG 2014: De novo mutation of the latency-associated peptide domain of TGFB3 in a patient with clinical features of Loeys-Dietz syndrome |
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ESHG 2013: Breakpoint characterization of large deletions using PacBio and Illumina sequencing technologies |
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ESHG 2012: Evaluation of exome sequencing in genes associated with aortic diseases |
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Webinar: Simplified characterization of large deletions using the PacBio sequencing platform (ESHG 2012, satellite workshop) » (pdf) |
For more information see also our list of publications.