Marjon van Slegtenhorst

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.

ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder

Kathleen B. Digre, Shankaracharya, Gary L. Farley, 2019, Genetics in Medicine.