Area of research
Pediatrics, Perinatology and Child Health · Genetics
Research interest
Research focused on Fetus and Prenatal diagnosis, with related work in Computational biology, Obstetrics, Karyotype. Notable publications include 'Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis', 'Recommendations for the integration of genomics into clinical practice', and 'Evidence for feasibility of fetal trophoblastic cell‐based noninvasive prenatal testing'.
Recommendations for the integration of genomics into clinical practice
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
Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis
Phenotypic information in genomic variant databases enhances clinical care and research: The international standards for cytogenomic arrays consortium experience