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WGS-based telomere length analysis in Dutch family trios implicates stronger maternal inheritance and a role for RRM1 gene
An organoid platform for ovarian cancer captures intra- and interpatient heterogeneity
Skewed X-inactivation is common in the general female population
Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly
Skewed X-inactivation is common in the general female population
A framework for the detection of de novo mutations in family-based sequencing data
Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells
A high-quality human reference panel reveals the complexity and distribution of genomic structural variants
Metabolic Engineering toward Sustainable Production of Nylon-6
Clinical and Molecular Characterization of an Infant with a Tandem Duplication and Deletion of 19p13
Genome-wide patterns and properties of de novo mutations in humans
Characteristics of de novo structural changes in the human genome
Whole-genome sequence variation, population structure and demographic history of the Dutch population
Constitutional Chromothripsis Rearrangements Involve Clustered Double-Stranded DNA Breaks and Nonhomologous Repair Mechanisms