Area of research
Genetics · Public Health, Environmental and Occupational Health
Research interest
Research interests include Reproductive Biology and Fertility, Bone Metabolism and Diseases, Genomics and Rare Diseases, and Microtubule and mitosis dynamics.
Novel biallelic <i>SASS6</i> variants associated with primary microcephaly and fetal growth restriction
<i>UBTF</i> haploinsufficiency associated with <i>UBTF</i>-related global developmental delay and distinctive facial features without neuroregression
A novel splice donor mutation in DCLRE1C caused atypical severe combined immunodeficiency in a patient with colon lymphoma: case report and literature review
Tumor keratin 15 expression links with less extent of invasion and better prognosis in papillary thyroid cancer patients receiving tumor resection
Novel CdIn2S4 nano-octahedra/TiO2 hollow hybrid heterostructure: In-situ synthesis, synergistic effect and enhanced dual-functional photocatalytic activities
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
Natural history of infantile‐onset spinal muscular atrophy
Biallelic Mutations in PATL2 Cause Female Infertility Characterized by Oocyte Maturation Arrest
Mutations in <i>TUBB8</i> and Human Oocyte Meiotic Arrest
The somite-secreted factor Maeg promotes zebrafish embryonic angiogenesis
Egfl6 is involved in zebrafish notochord development
Kinesin‐12 influences axonal growth during zebrafish neural development
Nonmuscle myosin II-B (myh10) expression analysis during zebrafish embryonic development
Expression and singnificance of AQP-1 in lung tissue of rats with hypoxic pulmonary hypertension
Fibroblast growth factor 21 promotes bone loss by potentiating the effects of peroxisome proliferator-activated receptor γ
Increased expression of BAG-1 in rat brain cortex after traumatic brain injury