Harmonization of whole genome sequencing data for gene-environment interaction ana...
Development of pipelines for the identification of genomic and epigenetic variants...
Characterization of INDELs and small CNVs in patients with autism spectrum disorder
Identification of copy number variations (CNVs) in a cohort of children and adoles...
Impact of genetic variants on genomic stability and their effects on the phenotype
Systematic approach and diagnosis of 46, XY differences of sex development: molecu...
SNP Arrays data bank analysis of patients with malformations and delay in neuropsy...