Simultaneous Identification of Both MFSD8 and RDH12 Pathogenic Variants in a Chinese Family Affected With Retinitis Pigmentosa

by Yihui Wang, Yanling Teng, Desheng Liang, Desheng Liang, Zhuo Li, Lingqian Wu, Lingqian Wu
Published 2021-09-01

Prenatal Diagnosis in a Fetus With X-Linked Recessive Chondrodysplasia Punctata: Identification and Functional Study of a Novel Missense Mutation in ARSE

by Li Zhang, Haoran Hu, Desheng Liang, Desheng Liang, Zhuo Li, Lingqian Wu, Lingqian Wu
Published 2021-09-01

Clinical and genetic study of 20 patients from China with Cornelia de Lange syndrome

by Mingyan Hei, Xiangyu Gao, Lingqian Wu
Published 2018-02-01

Next generation sequencing identified two novel mutations in NIPBL and a frame shift mutation in CREBBP in three Chinese children

by Hui Tang, Jing Guo, Siyuan Linpeng, Lingqian Wu
Published 2019-02-01

Restoration of FVIII Function and Phenotypic Rescue in Hemophilia A Mice by Transplantation of MSCs Derived From F8-Modified iPSCs

by Liyan Qiu, Mi Xie, Miaojin Zhou, Xionghao Liu, Zhiqing Hu, Lingqian Wu
Published 2021-02-01

Behavioral and Gene Expression Analysis of Stxbp6-Knockout Mice

by Cong Liu, Qian Hu, Yan Chen, Lingqian Wu, Xionghao Liu, Desheng Liang
Published 2021-03-01

ssODN-Mediated In-Frame Deletion with CRISPR/Cas9 Restores FVIII Function in Hemophilia A-Patient-Derived iPSCs and ECs

by Zhiqing Hu, Miaojin Zhou, Yong Wu, Zhuo Li, Xionghao Liu, Lingqian Wu, Desheng Liang
Published 2019-09-01

Cas12a and Lateral Flow Strip-Based Test for Rapid and Ultrasensitive Detection of Spinal Muscular Atrophy

by Chunhua Zhang, Zhuo Li, Miaomiao Chen, Zhiqing Hu, Lingqian Wu, Miaojin Zhou, Desheng Liang
Published 2021-05-01

A novel GJB1 mutation associated with X‐linked Charcot–Marie–Tooth disease in a large Chinese family pedigree

by Yingdi Liu, Jinjie Xue, Zhuo Li, Siyuan Linpeng, Hu Tan, Yanling Teng, Desheng Liang, Lingqian Wu
Published 2020-03-01

Constructing a database for the relations between CNV and human genetic diseases via systematic text mining

by Xi Yang, Zhuo Song, Chengkun Wu, Wei Wang, Gen Li, Wei Zhang, Lingqian Wu, Kai Lu
Published 2018-12-01

Diagnosis of Joubert Syndrome 10 in a Fetus with Suspected Dandy-Walker Variant by WES: A Novel Splicing Mutation in OFD1

by Siyuan Linpeng, Jing Liu, Jianyan Pan, Yingxi Cao, Yanling Teng, Desheng Liang, Zhuo Li, Lingqian Wu
Published 2018-01-01

CRISPR/Cas12a-Based Ultrasensitive and Rapid Detection of <i>JAK2</i> V617F Somatic Mutation in Myeloproliferative Neoplasms

by Miaomiao Chen, Chunhua Zhang, Zhiqing Hu, Zhuo Li, Menglin Li, Lingqian Wu, Miaojin Zhou, Desheng Liang
Published 2021-07-01

Identification of a novel gross deletion of TCOF1 in a Chinese prenatal case with Treacher Collins syndrome

by Jing Liu, Pengsiyuan Lin, Jialun Pang, Zhengjun Jia, Ying Peng, Hui Xi, Lingqian Wu, Zhuo Li, Hua Wang
Published 2020-08-01

IL-24 armored CAR19-T cells show enhanced antitumor activity and persistence

by Qian Hu, Yuxuan Zhang, Peiyun Wang, Miaojin Zhou, Zhiqing Hu, Cong Liu, Mujun Liu, Lingqian Wu, Xionghao Liu, Desheng Liang
Published 2021-01-01

Molecular investigation in Chinese patients with primary carnitine deficiency

by Yanghui Zhang, Haoxian Li, Jing Liu, Huiming Yan, Qin Liu, Xianda Wei, Hui Xi, Zhengjun Jia, Lingqian Wu, Hua Wang
Published 2019-09-01

Nonviral Gene Targeting at rDNA Locus of Human Mesenchymal Stem Cells

by Youjin Hu, Xionghao Liu, Panpan Long, Di Xiao, Jintao Cun, Zhuo Li, Jinfeng Xue, Yong Wu, Sha Luo, Lingqian Wu, Desheng Liang
Published 2013-01-01

REDBot: Natural language process methods for clinical copy number variation reporting in prenatal and products of conception diagnosis

by Mengmeng Liu, Yunshan Zhong, Hongqian Liu, Desheng Liang, Erhong Liu, Yu Zhang, Feng Tian, Qiaowei Liang, David S. Cram, Hua Wang, Lingqian Wu, Fuli Yu
Published 2020-11-01

Paired CRISPR/Cas9 Nickases Mediate Efficient Site-Specific Integration of F9 into rDNA Locus of Mouse ESCs

by Yanchi Wang, Junya Zhao, Nannan Duan, Wei Liu, Yuxuan Zhang, Miaojin Zhou, Zhiqing Hu, Mai Feng, Xionghao Liu, Lingqian Wu, Zhuo Li, Desheng Liang
Published 2018-10-01

Eight-Shaped Hatching Increases the Risk of Inner Cell Mass Splitting in Extended Mouse Embryo Culture.

by Zheng Yan, Hongxing Liang, Li Deng, Hui Long, Hong Chen, Weiran Chai, Lun Suo, Chen Xu, Yanping Kuang, Lingqian Wu, Shengsheng Lu, Qifeng Lyu
Published 2015-01-01

Targeting of the human coagulation factor IX gene at rDNA locus of human embryonic stem cells.

by Xionghao Liu, Yong Wu, Zhuo Li, Junlin Yang, Jinfeng Xue, Youjin Hu, Mai Feng, Wenbin Niu, Qiurui Yang, Ming Lei, Jiahui Xia, Lingqian Wu, Desheng Liang
Published 2012-01-01