Zhuo Li
lizhuo@sklmg.edu.cn
Chinese, English
Hunan
Central South University
Life Sciences
  • 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
  • Recipient of the Hunan Province Young Key Teacher Training Program
  • 2023/09-present, Central South University, School of Life Sciences, Professor
  • 2018/12-2023/09, Central South University, School of Life Sciences, Associate Researcher
  • 2013/12-2018/11, Central South University, School of Life Sciences, Assistant Researcher
  • 2015/01-2017/05, Cincinnati Children's Hospital, USA, Postdoctoral Fellow
  • 2014/04-2015/12, Xiangya Hospital of Central South University, Pediatrics, Postdoctoral Fellow
Development of genetic diagnosis and gene therapy technologies for major genetic diseases and birth defects
Research on genetic causes and pathogenic mechanisms of intellectual disabilities
Research on genetic causes and pathogenic mechanisms of limb development defects
  • 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
Genetic Diseases Birth Defects Gene Therapy Genetic Diagnosis Stem Cells Animal Models Pathogenic Mechanisms Intellectual Disabilities Limb Development Multidisciplinary Cooperation

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