Upload Avatar (500 x 500)
Zhuo Li
Life Science
Central South University
Hunan
Language: Chinese, English
Genetic Diseases
Birth Defects
Gene Diagnosis
Gene Therapy
Pathogenic Mechanisms
Stem Cells
Animal Models
Research
Technology Development
Clinical Application
Areas of Focus
- Genetic diseases and birth defects: Development of gene diagnosis and gene therapy technologies, and exploration of pathogenic mechanisms using stem cells and animal models.
Work Experience
- 2023/09-present, Central South University, Professor
- 2018/12-2023/09, Central South University, Associate Researcher
- 2013/12-2018/11, Central South University, Assistant Researcher
- 2015/01-2017/05, Cincinnati Children's Hospital, USA, Postdoctoral Fellow
- 2014/04-2015/12, Xiangya Hospital of Central South University, Postdoctoral Fellow
Academic Background & Achievements
- 2008/09-2013/12 PhD in Medical Genetics, Central South University
- 2005/09-2008/06 Master's in Medical Genetics, Central South University
- 2001/09-2005/06 Bachelor's in Life Sciences and Technology, Central South University
Publications
- A homozygous variant in INTS11 links mitosis and neurogenesis defects to a severe neurodevelopmental disorder., Zhuo Li, 2023
- Identification of novel mendelian disorders of the epigenetic machinery (MDEMs) associated functional mutations and neurodevelopmental disorders., Zhuo Li, 2023
- The exploration of genetic aetiology and diagnostic strategy for 321 Chinese individuals with intellectual disability., Zhuo Li, 2023
- Rapid and sensitive Cas12a-based one-step nucleic acid detection with ssDNA-modified crRNA., Zhuo Li, 2023
- WDR73 Depletion Destabilizes PIP4K2C Activity and Impairs Focal Adhesion Formation in Galloway-Mowat Syndrome., Zhuo Li, 2022
- Whole-exome sequencing identifies genetic variants of hearing loss in 113 Chinese families., Zhuo Li, 2022
- Molecular diagnosis for 55 fetuses with skeletal dysplasias by whole-exome sequencing: A retrospective cohort study., Zhuo Li, 2021
- Loss of PIGK function causes severe infantile encephalopathy and extensive neuronal apoptosis., Zhuo Li, 2021
- Detection of Spinal Muscular Atrophy Using a Duplexed Real-Time PCR Approach with Locked Nucleic Acid-Modified Primers., Zhuo Li, 2021
- Noninvasive fetal genotyping in pregnancies at risk for PKU using a comprehensive quantitative cSMART assay for PAH gene mutations: a clinical feasibility study., Zhuo Li, 2019
