- Reciprocal 22q11.2 Deletion and Duplication in Siblings with Karyotypically Normal Parents
- The genetics of ASD: insights from the Leuven autism study
- Detection of AGG interruptions in FMR1 premutation females by Single-molecule sequencing
- Long Read Sequencing of Single Microdisscted Chromosomes enables targeted genotyping
- STIL compound heterozygous mutations detected prenatally cause of microcephaly, brain abnormalities and embrionic lethality?