Area of research
Genetics · Orthopedics and Sports Medicine
Research interest
Research focused on Exome sequencing and Duchenne muscular dystrophy, with related work in CRISPR, Single-nucleotide polymorphism, Frameshift mutation. Notable publications include 'Death after High-Dose rAAV9 Gene Therapy in a Patient with Duchenne’s Muscular Dystrophy', 'A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis', and 'Applying genome-wide CRISPR-Cas9 screens for therapeutic discovery in facioscapulohumeral muscular dystrophy'.
Saturation mutagenesis-reinforced functional assays for disease-related genes
Death after High-Dose rAAV9 Gene Therapy in a Patient with Duchenne’s Muscular Dystrophy
A new phenotype of syndromic retinitis pigmentosa with myopathy is caused by mutations in retinol dehydrogenase 11
Exome sequencing in paediatric patients with movement disorders
Effectiveness of companion-intensive multi-aspect weight management in Chinese adults with obesity: a 6-month multicenter randomized clinical trial
A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis
Applying genome-wide CRISPR-Cas9 screens for therapeutic discovery in facioscapulohumeral muscular dystrophy
Investigation of the 53 Markers in a DNA-Based Prognostic Test Revealing New Predisposition Genes for Adolescent Idiopathic Scoliosis
Validation of the simplified Chinese version of the quality of life questionnaire of the European foundation for osteoporosis (QUALEFFO-31)
Relationship between sagittal spinal alignment and the incidence of vertebral fracture in menopausal women with osteoporosis: a multicenter longitudinal follow-up study