The laboratory develops, translates and implements genomic technologies to improve genetic diagnostic testing and to map the causes and mechanisms underlying chromosomal rearrangements. The 22q11.2 deletion syndrome, the most frequent genomic disorder, serves as a model to map the consequences of structural variation on phenotypic expression. By studying embryonic development and early placentation we have been mapping the landscape of mutational mechanisms which shape the human genome during those early developmental stages and eventually cause disease. The lab has been at the forefront of clinical technology implementation to improve preimplantation, prenatal and postnatal genetic testing of rare diseases. Lately, the lab also focuses on liquid biopsies as a biomarker to map genic and non-genic diseases.