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 Cancer Genomics and Diagnostics.
A spatiotemporal transcriptomic atlas of mouse placentation
Genetic deconvolution of fetal and maternal cell-free DNA in maternal plasma enables next-generation non-invasive prenatal screening
Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA
Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria
Biparental Inheritance of Mitochondrial DNA in Humans
A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects