Author
Maastricht University Medical Centre
Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.
Mutual co-authors in cluster
5 papers
Recent·Most cited
Tessa J.J. de Bitter, Bart P. G. H. van der Sanden, Lydia Sagath…·Lisenka E.L.M. Vissers
This study evaluates long-read genome sequencing in rare disease diagnostics, finding high concordance with standard-of-care tests and incremental diagnostic benefits.
Wolfram Höps, Marjan M. Weiss, Ronny C. Derks…·Lisenka E.L.M. Vissers
The paper demonstrates that HiFi long-read sequencing can detect 93% of clinically relevant variants challenging to identify with short-read sequencing, using 30x coverage and showing potential for cost-effective diagnostic implementation.
A Janssen, Rebekka M. Koeck, Rick Essers…·Masoud Zamani Esteki
This paper introduces a whole genome sequencing-based haplarithmisis method for preimplantation genetic testing, improving coverage, reducing artifacts, and enabling new applications like trio-based aneuploidy detection.
Gaby Schobers, Ronny C. Derks, Amber den Ouden…·Lisenka E.L.M. Vissers
This study evaluates genome sequencing as a primary diagnostic tool for rare diseases, finding it can detect 95% of clinically relevant variants with a 0.3% false negative rate.
Roelof Koster, Rita D. Brandão, Demis Tserpelis…·Marinus J. Blok
This paper develops a targeted RNAseq approach to detect pathogenic RNA splicing variants in NF1, identifying novel splicing events and confirming splice variants in patients with NF1 symptoms.