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Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis

Phenotype-genotype analysis in a large cohort of 250 individuals with a chromosome 6q deletion

NGS expanded carrier screening in the Netherlands: initial implementation results

PRRT2-related phenotypes in patients with a 16p11.2 deletion

Rapid whole exome sequencing in critically ill children

Reinterpretation and reclassification in diagnostic Next-Generation Sequencing: current daily practices and dilemmas of Dutch clinical genomics laboratory professionals

Reinterpretation, reclassification, and its downstream effects: challenges for clinical laboratory geneticists

The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports

Copy number variation in a hospital-based cohort of children with epilepsy

Variable phenotypes in individuals with grin2a sequence variants or deletions

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