Author
Maastricht University Medical CentreORCID 0000-0002-6742-6239Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
4 papers
Recent·Most cited
Mugdha Singh, Sarah L. Stenton, Emily Groopman…·Sanna Gudmundsson
The paper evaluates incomplete penetrance in 4,325 rare disease families, finding 1.6% of diagnosed cases involve inherited variants from unaffected parents and showing divergent transcriptional effects in CHD8-related cases.
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.
Michael Ortiz, Charlie B. Ffrench, Stuart Webb…·Claudine S. Bonder
This study identifies TPD54 as a regulator of protein trafficking in melanoma, showing its role in disease progression and potential as a therapeutic target.
Rosanne C. van Deuren, Peer Arts, Giulio Cavalli…·Alexander Hoischen
This study identifies associations between rare and common genetic variants in the IL-1 pathway and cytokine responses to various stimuli in healthy individuals.