Area of research
Public Health, Environmental and Occupational Health · Molecular Biology
Research interest
Research focused on Oocyte and Genetics, with related work in Phenotype, Embryonic stem cell, Missense mutation. Notable publications include 'Mutations in TUBB8 and Human Oocyte Meiotic Arrest', 'Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest', and 'Homozygous Mutations in WEE2 Cause Fertilization Failure and Female Infertility'.
Genetic landscape of human oocyte/embryo defects
<i>COX15</i> deficiency causes oocyte ferroptosis
Large-scale analysis of de novo mutations identifies risk genes for female infertility characterized by oocyte and early embryo defects
Bi‐allelic pathogenic variants in PABPC1L cause oocyte maturation arrest and female infertility
Multi-omics analysis identifies rare variation in leptin/PPAR gene sets and hypermethylation of ABCG1 contribute to antipsychotics-induced metabolic syndromes
<i>FBXO43</i> variants in patients with female infertility characterized by early embryonic arrest
Novel biallelic mutations in <i>MEI1:</i> expanding the phenotypic spectrum to human embryonic arrest and recurrent implantation failure
Bi-allelic Missense Pathogenic Variants in TRIP13 Cause Female Infertility Characterized by Oocyte Maturation Arrest
Genetic regulatory subnetworks and key regulating genes in rat hippocampus perturbed by prenatal malnutrition: implications for major brain disorders
Biallelic mutations in CDC20 cause female infertility characterized by abnormalities in oocyte maturation and early embryonic development
Identification novel mutations in TUBB8 in female infertility and a novel phenotype of large polar body in oocytes with TUBB8 mutations
The identification of novel mutations in PLCZ1 responsible for human fertilization failure and a therapeutic intervention by artificial oocyte activation
Mutations in <i>NLRP2</i> and <i>NLRP5</i> cause female infertility characterised by early embryonic arrest
A pannexin 1 channelopathy causes human oocyte death
Homozygous mutations in <i>REC114</i> cause female infertility characterised by multiple pronuclei formation and early embryonic arrest
Epigenome-Wide Association Study Indicates Hypomethylation of <i>MTRNR2L8</i> in Large-Artery Atherosclerosis Stroke
Homozygous Mutations in WEE2 Cause Fertilization Failure and Female Infertility
Novel mutations in genes encoding subcortical maternal complex proteins may cause human embryonic developmental arrest
The comprehensive mutational and phenotypic spectrum of TUBB8 in female infertility
Basonuclin 1 deficiency is a cause of primary ovarian insufficiency
Biallelic Mutations in PATL2 Cause Female Infertility Characterized by Oocyte Maturation Arrest
Mutations in <i>TUBB8</i> and Human Oocyte Meiotic Arrest
Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest
Mutations in <i>TUBB8</i> cause a multiplicity of phenotypes in human oocytes and early embryos
Novel mutations and structural deletions in<i>TUBB8</i>: expanding mutational and phenotypic spectrum of patients with arrest in oocyte maturation, fertilization or early embryonic development
DNA methylation levels of imprinted and nonimprinted genes DMRs associated with defective human spermatozoa
Identification of a novel compound heterozygous mutation in PTPRQ in a DFNB84 family with prelingual sensorineural hearing impairment
Association of Leukocyte Telomere Length with Type 2 Diabetes in Mainland Chinese Populations
c-Abl promotes osteoblast expansion by differentially regulating canonical and non-canonical BMP pathways and p16INK4a expression