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Exome sequencing greatly expedites the progressive research of Mendelian diseases
Xuejun Zhang
Frontiers of Medicine 2014, Volume 8, Issue 1, Pages 42-57 doi: 10.1007/s11684-014-0303-9
The advent of whole-exome sequencing (WES) has facilitated the discovery of rare structure and functionalCombining exome sequencing with linkage studies is one of the most efficient strategies in searchingWe illustrate the workflow of exome capture and sequencing to highlight the advantages of WES.
Keywords: genetics whole-exome sequencing Mendelian disease disease gene
Liru Qiu, Fengjie Yang, Yonghua He, Huiqing Yuan, Jianhua Zhou
Frontiers of Medicine 2018, Volume 12, Issue 5, Pages 550-558 doi: 10.1007/s11684-017-0567-y
Keywords: cystic fibrosis pseudo-Bartter syndrome hypokalemic alkalosis CFTR gene mutations infants diagnosis
Exploring the cancer genome in the era of next-generation sequencing
Hui Dong, Shengyue Wang
Frontiers of Medicine 2012, Volume 6, Issue 1, Pages 48-55 doi: 10.1007/s11684-012-0182-x
Keywords: next-generation sequencing cancer genome whole genome sequencing exome transcriptome
Frontiers of Medicine 2021, Volume 15, Issue 3, Pages 438-447 doi: 10.1007/s11684-020-0826-1
Keywords: sporadic thoracic aortic dissection exome sequencing gene COL3A1 case–control study extracellular
A novel variant in the gene in a large Chinese family with a unique phenotype of Clouston syndrome
Frontiers of Medicine 2023, Volume 17, Issue 2, Pages 330-338 doi: 10.1007/s11684-022-0933-2
Keywords: Clouston syndrome whole exome sequencing GJB6 gene novel variant unique phenotype
Xiaoke Wu, Chi Chiu Wang, Yijuan Cao, Jian Li, Zhiqiang Li, Hongli Ma, Jingshu Gao, Hui Chang, Duojia Zhang, Jing Cong, Yu Wang, Qi Wu, Xiaoxiao Han, Pui Wah Jacqueline Chung, Yiran Li, Xu Zheng, Lingxi Chen, Lin Zeng, Astrid Borchert, Hartmut Kuhn, Zi-Jiang Chen, Ernest Hung Yu Ng, Elisabet Stener-Victorin, Heping Zhang, Richard S. Legro, Ben Willem J. Mol, Yongyong Shi
Engineering 2023, Volume 23, Issue 4, Pages 103-111 doi: 10.1016/j.eng.2022.08.013
Keywords: Polycystic ovary syndrome Infertility Ovulation responses ZNF438 REC114 Whole-exome sequencing
Title Author Date Type Operation
Exome sequencing greatly expedites the progressive research of Mendelian diseases
Xuejun Zhang
Journal Article
Clinical characterization and diagnosis of cystic fibrosis through exome sequencing in Chinese infants
Liru Qiu, Fengjie Yang, Yonghua He, Huiqing Yuan, Jianhua Zhou
Journal Article
Exploring the cancer genome in the era of next-generation sequencing
Hui Dong, Shengyue Wang
Journal Article
Identification of variants associated with sporadic thoracic aortic dissection: a case--control study
Journal Article
A novel variant in the gene in a large Chinese family with a unique phenotype of Clouston syndrome
Journal Article
Novel Genetic Risk and Metabolic Signatures of Insulin Signaling and Androgenesis in the Anovulation of Polycystic Ovary Syndrome
Xiaoke Wu, Chi Chiu Wang, Yijuan Cao, Jian Li, Zhiqiang Li, Hongli Ma, Jingshu Gao, Hui Chang, Duojia Zhang, Jing Cong, Yu Wang, Qi Wu, Xiaoxiao Han, Pui Wah Jacqueline Chung, Yiran Li, Xu Zheng, Lingxi Chen, Lin Zeng, Astrid Borchert, Hartmut Kuhn, Zi-Jiang Chen, Ernest Hung Yu Ng, Elisabet Stener-Victorin, Heping Zhang, Richard S. Legro, Ben Willem J. Mol, Yongyong Shi
Journal Article