Professor | 李卓 | 数字化转型顾问

	Upload Avatar (500 x 500)
Name	李卓
Contact Information	lizhuo@sklmg.edu.cn
Language ability	中文, 英语
Province	湖南省

Upload Avatar (500 x 500)

Name

李卓

Contact Information

lizhuo@sklmg.edu.cn

Language ability

中文, 英语

Province

湖南省

University/Lab Affiliation and Title	中南大学
Faculty	Life Sciences
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
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

University/Lab Affiliation and Title

中南大学

Faculty

Life Sciences

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

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

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。
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

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。

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

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

尹晓磊 - 同济大学

岳锐 - 同济大学

Area of Focus
骨骼 | 干细胞 | 造血 | 微环境 | 鉴定 | 调控 | 骨质疏松 | 骨关节炎 | 年轻化 | 临床应用

肖华 - 上海交通大学

View All

Personal Information

Academic Information

Research

联系我们

还未创建账户?

Personal Information

Academic Information

Research

联系我们