Area of research
Pediatrics, Perinatology and Child Health · Genetics
Research interest
Research focused on Massive parallel sequencing and Aneuploidy, with related work in Computational biology, Trisomy, Cytogenetics. Notable publications include 'Clinical application of massively parallel sequencing‐based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11 105 pregnancies with mixed risk factors', 'Low-pass whole-genome sequencing in clinical cytogenetics: a validated approach', and 'A method for noninvasive detection of fetal large deletions/duplications by low coverage massively parallel sequencing'.
Maternal ELL3 loss-of-function leads to oocyte aneuploidy and early miscarriage
A capillary electrophoresis-based assay for carrier screening of the hotspot mutations in the CYP21A2 gene
Transcriptomic Profiling of Human Placenta in Gestational Diabetes Mellitus at the Single-Cell Level
Low-pass whole-genome sequencing in clinical cytogenetics: a validated approach
Optimal Cooperative Beamforming Design for MIMO Decode-and-Forward Relay Channels
A method for noninvasive detection of fetal large deletions/duplications by low coverage massively parallel sequencing
Clinical application of massively parallel sequencing‐based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11 105 pregnancies with mixed risk factors