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CFTR gene 1

GJB6 gene 1

Clouston syndrome 1

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Mendelian disease 1

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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

Abstract:

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    

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Clinical characterization and diagnosis of cystic fibrosis through exome sequencing in Chinese infants

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

Abstract: period of June 2013 to September 2014 with BS-like hypokalemic alkalosis, were diagnosed with CF through exomefrom BS in Chinese infants with hypokalemic alkalosis and the significant diagnostic value of powerful exome

Keywords： cystic fibrosis     pseudo-Bartter syndrome     hypokalemic alkalosis     CFTR gene     mutations     infants     diagnosis    

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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

Abstract: Comprehensive analysis of cancer genomes through approaches of whole genome, exome, and transcriptome

Keywords： next-generation sequencing     cancer genome     whole genome sequencing     exome     transcriptome    

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Identification of variants associated with sporadic thoracic aortic dissection: a case--control study

Frontiers of Medicine 2021, Volume 15, Issue 3,   Pages 438-447 doi: 10.1007/s11684-020-0826-1

Abstract: Whole exome sequencing was performed in 223 STAD patients and 414 healthy controls from the Chinese Han

Keywords： sporadic thoracic aortic dissection     exome sequencing     gene COL3A1     case–control study     extracellular    

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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

Abstract: patients and to provide a basis for further study of the pathogenesis of the disease, we performed whole-exome

Keywords： Clouston syndrome     whole exome sequencing     GJB6 gene     novel variant     unique phenotype    

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Novel Genetic Risk and Metabolic Signatures of Insulin Signaling and Androgenesis in the Anovulation of Polycystic Ovary Syndrome Article

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

Abstract: In a prospective cohort (PCOSAct) of 1000 infertile patients with PCOS, whole-exome plus targeted singlenucleotide

Keywords： Polycystic ovary syndrome     Infertility     Ovulation responses     ZNF438     REC114     Whole-exome sequencing    

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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