Lisanne Vervoort

The paper investigates the mechanisms behind the high incidence of 22q11.2 deletion syndrome by analyzing recombination events and paralogous structures in LCR22 regions.

The paper investigates the inter- and intra-species variability of LCR22s in non-human primates and finds that LCR22 expansions are unique to humans.

The paper introduces CTLR-Seq, a method to resolve complex genomic regions with high accuracy, and applies it to study CNVs associated with schizophrenia and autism.

The paper characterizes the structural variability of 22q11 low copy repeats (LCRs) using optical and Bionano mapping, revealing high haplotype diversity and population-specific differences.