Area of research
Genetics · Pediatrics, Perinatology and Child Health
Research interest
Research interests include Genetics, Biology, Rett syndrome, Autism, Gene duplication, and Exome sequencing.
Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Functions
1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
A study of the clinical and radiological features in a cohort of 93 patients with a <i>COL2A1</i> mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP
A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features