Professor | Zhuo Li | Asia Growth Partners

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Name	Zhuo Li
Contact Information	lizhuo@sklmg.edu.cn
Language ability	Chinese, English
Province	Hunan

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Name

Zhuo Li

Contact Information

lizhuo@sklmg.edu.cn

Language ability

Chinese, English

Province

Hunan

University/Lab Affiliation and Title	Central South University
Faculty	Life Sciences
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
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

University/Lab Affiliation and Title

Central South University

Faculty

Life Sciences

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

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

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.
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

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.

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

Genetic Diseases Birth Defects Gene Diagnosis Gene Therapy Pathogenic Mechanisms Stem Cells Animal Models Research Technology Development Clinical Application

Ke Wei - Tongji University

Ying Jiang - Tongji University

Zhuo Li - Central South University

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