Area of research
Pediatrics, Perinatology and Child Health · Genetics
Research interest
Research interests include Prenatal Screening and Diagnostics, Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, and Fetal and Pediatric Neurological Disorders.
Bi-allelic <i>ACBD6</i> variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders
<i>SEMA6B</i> variants cause intellectual disability and alter dendritic spine density and axon guidance
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome
Reanalysis of Clinical Exome Sequencing Data
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder
Evidence for feasibility of fetal trophoblastic cell‐based noninvasive prenatal testing
Genome-wide copy number analysis on DNA from fetal cells isolated from the blood of pregnant women