Biography

Yu Yongguo, doctoral supervisor, executive director of the Clinical Genetics Center of Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, and head of the molecular diagnostic platform of Shanghai Institute of Pediatrics. He is also a member and deputy director general of the Medical Geneticists Branch of the Chinese Medical Doctor Association, the deputy director of the Youth Committee of the Medical Geneticists Branch of the Chinese Medical Doctor Association, a member of the Rare Diseases Group of the Pediatric Branch of the Chinese Medical Association, and the Molecular Genetics Group of the Molecular Diagnosis Branch of the Shanghai Medical Association. Chairman, etc.

Mainly engaged in molecular diagnosis of genetic diseases and rare diseases, such as mental retardation, autism, multiple deformities, obesity, short stature and other genetic causes. He has undertaken 4 projects of the National Natural Science Foundation of China and 2 sub-projects of the National Science and Technology Major Project; published more than 40 SCI papers as the first author/corresponding author, and his representative works have been published in American Journal of Human Genetics, Clinical Chemistry, Human Mutation and other journals. Obtained the Shanghai Pujiang Talent Program and the Shanghai Education Commission Peak Plateau Research Physician Program.

Publications

1. Yanjie Fan; Wu Yin; Bing Hu; Antonie D Kline; Victor Wei Zhang; Desheng Liang; Yu Sun; Li li Wang; Sha Tang; Zöe Powis; Lei Li; Huifang Yan; Zhen Shi; Xiaoping Yang; Yinyin Chen; Jingmin Wang; Yuwu Jiang; Hu Tan; Xuefan Gu; Lingqian Wu; Yongguo Yu ; De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism, The American Journal of Human Genetics, 2018, 103(3): 448-445

2. Xiaomin Liu; Guorui Hu; Jun Ye; Bin Ye; Nan Shen; Yue Tao; Xia Zhang; Yanjie Fan; Huili Liu; Zhigang Zhang; Danfeng Fang; Xuefan Gu; Xi Mo; Yongguo Yu ; De Novo ARID1B Mutations Cause Growth Delay Associated With Aberrant Wnt/β-catenin Signaling, Human mutation, 2020, 42(5)

3. Yu Sun; Xiantao Ye; Yanjie Fan; Lili Wang; Xiaomei Luo; Huili Liu; Xueren Gao; Zhuwen Gong; Yu Wang; Wenjuan Qiu; Huiwen Zhang; Lianshu Han; Lili Liang; Hui Ye; Bing Xiao; Xuefan Gu; Yongguo Yu ; High Detection Rate of Copy Number Variations Using Capture Sequencing Data: A Retrospective Study, Clinical Chemistry, 2020, 66(3): 455-462

4. Yu Sun; Jing Peng; Desheng Liang; Xiantao Ye; Na Xu; Linlin Chen; Dan Yan; Huiwen Zhang;Bing Xiao; Wenjuan Qiu; Yiping Shen; Nan Pang; Yingdi Liu; Chen Liang; Zailong Qin; Jingsi Luo; Fei Chen; Jingmin Wang; Zhixin Zhang; Haiyan Wei; Juan Du; Huifang Yan; Ruoyu Duan; Junyu Wang; Yu Zhang; Shixiu Liao; Kun Sun; Lingqian Wu; Yongguo Yu ; Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: a prospective study, human mutation, 2022

5. Yu Sun; Xiujuan Wei; Fang Fang; Yiping Shen; Haiyan Wei; Jiuwei Li; Xianglai Ye; Yongkun Zhan; Xiantao Ye; Xiaomin Liu; Wei Yang; Yuhua Li; Xiangju Geng; Xuelin Huang; Yiyan Ruan; Zailong Qin; Shang Yi; Jianxin Lyu; Hezhi Fang; Yongguo Yu ; HPDL deficiency causes a neuromuscular disease by impairing the mitochondrial respiration, Journal of Genetics and Genomics, 2021, 48(8): 727-736