Author
Leiden University Medical CenterORCID 0000-0002-6304-1710Unclaimed ORCID profile · follow to get notified of new preprints
4 papers
Recent·Most cited
Xiaoyu Yin, Marcy E. Richardson, Andreas Laner…·Stefan Aretz
Mihai Lefter, Jonathan K. Vis, Martijn Vermaat…·Jeroen F. J. Laros
Mutalyzer 2 checks and corrects HGVS variant descriptions automatically, improving accuracy in genetic data.
Artem Kim, Clara Savary, Christèle Dubourg…·Tania Attié‐Bitach
This study identifies novel HPE genes and oligogenic inheritance patterns in holoprosencephaly by integrating clinical data with exome sequencing and gene prioritization.
Seyed Yahya Anvar, Guy Allard, Elizabeth Tseng…·Peter A.C. ’t Hoen
The paper uses full-length mRNA sequencing to uncover widespread coupling between transcription and mRNA processing events in breast cancer cells and human tissues.