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WGS-based telomere length analysis in Dutch family trios implicates stronger maternal inheritance and a role for RRM1 gene
Skewed X-inactivation is common in the general female population
Skewed X-inactivation is common in the general female population
Diagnostic exome sequencing in 266 Dutch patients with visual impairment
A high-quality human reference panel reveals the complexity and distribution of genomic structural variants
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant
Detecting dispersed duplications in high-throughput sequencing data using a database-free approach
Detecting dispersed duplications in high-throughput sequencing data using a database-free approach
Characteristics of de novo structural changes in the human genome
Detecting dispersed duplications in high-throughput sequencing data using a database-free approach
Mobster: accurate detection of mobile element insertions in next generation sequencing data
Whole-genome sequence variation, population structure and demographic history of the Dutch population
The Genome of the Netherlands: design, and project goals
Recurrent Deletion of ZNF630 at Xp11.23 Is Not Associated With Mental Retardation