Novel Compound Heterozygous Variants in MKS1 Leading to Joubert Syndrome

by Minna Luo, Minna Luo, Ruida He, Zaisheng Lin, Yue Shen, Yue Shen, Guangyu Zhang, Zongfu Cao, Zongfu Cao, Chao Lu, Chao Lu, Dan Meng, Jing Zhang, Xu Ma, Xu Ma, Muqing Cao
Published 2020-10-01

A Novel Missense Variant in the Gene PPP2R5D Causes a Rare Neurodevelopmental Disorder with Increased Phenotype

by Lulu Yan, Ru Shen, Zongfu Cao, Chunxiao Han, Yuxin Zhang, Yingwen Liu, Xiangchun Yang, Min Xie, Haibo Li
Published 2021-01-01

Novel mutations in HSF4 cause congenital cataracts in Chinese families

by Zongfu Cao, Yihua Zhu, Lijuan Liu, Shuangqing Wu, Bing Liu, Jianfu Zhuang, Yi Tong, Xiaole Chen, Yongqing Xie, Kaimei Nie, Cailing Lu, Xu Ma, Juhua Yang
Published 2018-08-01

Clinical heterogeneity and intrafamilial variability of Joubert syndrome in two siblings with CPLANE1 variants

by Xiujuan Zhang, Yue Shen, Ping Li, Ruikun Cai, Chao Lu, Qian Li, Cuixia Chen, Yufei Yu, Tingting Cheng, Xian Wang, Minna Luo, Muqing Cao, Zongfu Cao, Xu Ma
Published 2021-06-01

Detailed pedigree analyses and prenatal diagnosis for a family with mucopolysaccharidosis type II

by Chuan Zhang, Shengju Hao, ZhaoYan Meng, Ling Hui, Yan Wang, Feng Xuan, Xue Chen, Xing Wang, Furong Zheng, Lei Zheng, Bingbo Zhou, Xinqi Wu, Qinghua Zhang, Zongfu Cao
Published 2021-06-01

Identification of two novel pathogenic variants of PIBF1 by whole exome sequencing in a 2-year-old boy with Joubert syndrome

by Yue Shen, Hao Wang, Zhimin Liu, Minna Luo, Siyu Ma, Chao Lu, Zongfu Cao, Yufei Yu, Ruikun Cai, Cuixia Chen, Qian Li, Huafang Gao, Yun Peng, Baoping Xu, Xu Ma
Published 2020-10-01

Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome

by Minna Luo, Li Cao, Zongfu Cao, Siyu Ma, Yue Shen, Di Yang, Chao Lu, Zaisheng Lin, Zhimin Liu, Yufei Yu, Ruikun Cai, Cuixia Chen, Huafang Gao, Xueyan Wang, Muqing Cao, Xu Ma
Published 2019-12-01

RAF dimer inhibition enhances the antitumor activity of MEK inhibitors in K‐RAS mutant tumors

by Xi Yuan, Zhiyu Tang, Rong Du, Zhan Yao, Shing‐Hu Cheung, Xinwen Zhang, Jing Wei, Yuan Zhao, Yunguang Du, Ye Liu, Xiaoxia Hu, Wenfeng Gong, Yong Liu, Yajuan Gao, Zhiyue Huang, Zongfu Cao, Min Wei, Changyou Zhou, Lai Wang, Neal Rosen, Paul D. Smith, Lusong Luo
Published 2020-08-01