Richard Sinke

Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis

Birgit Sikkema-Raddatz, Kristin M. Abbott, Morris A. Swertz, 2018, 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.

Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis

Birgit Sikkema-Raddatz, Morris A Swertz, Yvonne J Vos, 2019, Nature Communications.