Area of research
Pediatrics, Perinatology and Child Health · Genetics
Research interest
Research focused on Massive parallel sequencing and Trisomy, with related work in Genetics, Missense mutation, Exome sequencing. 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 'Deep sequencing of the MHC region in the Chinese population contributes to studies of complex disease'.
Genome Sequencing Explores Complexity of Chromosomal Abnormalities in Recurrent Miscarriage
Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies
Dysfunction of Myosin Light‐Chain 4 (MYL4) Leads to Heritable Atrial Cardiomyopathy With Electrical, Contractile, and Structural Components: Evidence From Genetically‐Engineered Rats
Low-pass whole-genome sequencing in clinical cytogenetics: a validated approach
Deep sequencing of the MHC region in the Chinese population contributes to studies of complex disease
Homozygous <i>GNAL</i> mutation associated with familial childhood-onset generalized dystonia
POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking
Noninvasive prenatal testing for autosomal recessive conditions by maternal plasma sequencing in a case of congenital deafness
A large-scale screen for coding variants predisposing to psoriasis
A method for noninvasive detection of fetal large deletions/duplications by low coverage massively parallel sequencing
Noninvasive prenatal testing of trisomies 21 and 18 by massively parallel sequencing of maternal plasma DNA in twin pregnancies
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
Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes