Jan D H Jongbloed

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel

Birgit Funke, Eden Haverfield, Ana Morales, 2018, Genetics in Medicine.

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.

Rapid Targeted Genomics in Critically Ill Newborns

Birgit Sikkema-Raddatz, Pieter B. T. Neerincx, Morris A Swertz, 2017, Pediatrics.