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李卓
Life Science
中南大学
湖南省
Language: 中文, 英语
遗传病
出生缺陷
基因诊断
基因治疗
致病机制
干细胞
动物模型
研究
技术开发
临床应用
Areas of Focus
- 针对重大遗传病及出生缺陷：研发基因诊断、基因治疗等遗传病防治新技术，并利用干细胞、动物模型等探究重大遗传病的致病机制。
Work Experience
- 2023/09-至今，中南大学生命科学学院，教授
- 2018/12-2023/09，中南大学生命科学学院，副研究员
- 2013/12-2018/11，中南大学生命科学学院，助理研究员
- 2015/01-2017/05，美国辛辛那提儿童医院，博士后
- 2014/04-2015/12，中南大学湘雅医院儿科，博士后
Academic Background & Achievements
- 2008/09-2013/12 中南大学医学遗传学博士
- 2005/09-2008/06 中南大学医学遗传学硕士
- 2001/09-2005/06 中南大学国家生命科学与技术人才培养基地学士
Publications
- A homozygous variant in INTS11 links mitosis and neurogenesis defects to a severe neurodevelopmental disorder., 李卓, 2023
- Identification of novel mendelian disorders of the epigenetic machinery (MDEMs) associated functional mutations and neurodevelopmental disorders., 李卓, 2023
- The exploration of genetic aetiology and diagnostic strategy for 321 Chinese individuals with intellectual disability., 李卓, 2023
- Rapid and sensitive Cas12a-based one-step nucleic acid detection with ssDNA-modified crRNA., 李卓, 2023
- WDR73 Depletion Destabilizes PIP4K2C Activity and Impairs Focal Adhesion Formation in Galloway-Mowat Syndrome., 李卓, 2022
- Whole-exome sequencing identifies genetic variants of hearing loss in 113 Chinese families., 李卓, 2022
- Molecular diagnosis for 55 fetuses with skeletal dysplasias by whole-exome sequencing: A retrospective cohort study., 李卓, 2021
- Loss of PIGK function causes severe infantile encephalopathy and extensive neuronal apoptosis., 李卓, 2021
- Detection of Spinal Muscular Atrophy Using a Duplexed Real-Time PCR Approach with Locked Nucleic Acid-Modified Primers., 李卓, 2021
- Noninvasive fetal genotyping in pregnancies at risk for PKU using a comprehensive quantitative cSMART assay for PAH gene mutations: a clinical feasibility study., 李卓, 2019
