Martijn Vermaat

An efficient algorithm for the extraction of HGVS variant descriptions from sequences

Joost N. Kok, Jonathan K. Vis, Jeroen F. J. Laros, 2015, Bioinform..

Mutalyzer 2: next generation HGVS nomenclature checker

Jonathan K. Vis, Jeroen F. J. Laros, Johan T. den Dunnen, 2021, Bioinform..

A high-quality human reference panel reveals the complexity and distribution of genomic structural variants

Alexandros Kanterakis, Mark Santcroos, David van Enckevort, 2016, Nature Communications.

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects

Edwin Cuppen, Marcel Nelen, Wilfred F J van IJcken, 2015, European Journal of Human Genetics.

Disease variants alter transcription factor levels and methylation of their binding sites

Mathieu Lemire, Morris A. Swertz, Szymon M. Kielbasa, 2015, bioRxiv.