Area of research
Genetics · Pediatrics, Perinatology and Child Health
Research interest
Research interests include Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, and Prenatal Screening and Diagnostics.
Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability
Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation
Different mutations in <i>PDE4D</i> associated with developmental disorders with mirror phenotypes