A custom-designed panel sequencing study in 201 Chinese patients with craniosynostosis revealed novel variants and distinct mutation spectra

Yingzhi Wu; Meifang Peng; Jieyi Chen; Jinlong Suo; Sihai Zou; Yanqing Xu; Andrew O.M. Wilkie; Weiguo Zou; Xiongzheng Mu; Sijia Wang

doi:10.1016/j.jgg.2020.11.004

Volume 48 Issue 2

Feb. 2021

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Article Navigation > Journal of Genetics and Genomics > 2021 > 48(2): 167-171

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A custom-designed panel sequencing study in 201 Chinese patients with craniosynostosis revealed novel variants and distinct mutation spectra

doi: 10.1016/j.jgg.2020.11.004

Yingzhi Wu^{1, #},
Meifang Peng^{2, 3, #},
Jieyi Chen^{2, 3, #},
Jinlong Suo⁴,
Sihai Zou^{5, 6},
Yanqing Xu⁷,
Andrew O.M. Wilkie⁸,
Weiguo Zou⁹,
Xiongzheng Mu¹⁰,
Sijia Wang^{11, 12}

1
Department of Plastic Surgery, Huashan Hospital, Fudan University, Shanghai 200040, China
2
State Key Laboratory of Genetic Engineering at School of Life Sciences, Fudan University, Shanghai 200011, China
3
CAS Key Laboratory of Computational Biology, CAS-MPG Partner Institute for Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai 200031, China
4
The State Key Laboratory of Cell Biology, CAS Center for Excellence in Molecular Cell Science, Shanghai Institute of Biochemistry and Cell Biology, Chinese Academy of Sciences, University of Chinese Academy of Sciences, Shanghai 200031, China
5
Department of Oral and Maxillofacial Surgery, Affiliated Hospital of Stomatology, Chongqing Medical University, Chongqing 401147, China
6
Chongqing Key Laboratory of Oral Diseases and Biomedical Sciences, Chongqing 401147, China
7
Forest Ridge School of the Sacred Heart, Bellevue, WA 98006, USA
8
MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK
9
The State Key Laboratory of Cell Biology, CAS Center for Excellence in Molecular Cell Science, Shanghai Institute of Biochemistry and Cell Biology, Chinese Academy of Sciences, University of Chinese Academy of Sciences, Shanghai 200031, China
10
Department of Plastic Surgery, Huashan Hospital, Fudan University, Shanghai 200040, China
11
CAS Key Laboratory of Computational Biology, CAS-MPG Partner Institute for Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai 200031, China
12
Center for Excellence in Animal Evolution and Genetics, Chinese Academy of Sciences, Kunming 650223, China

More Information

Corresponding author: E-mail address: cranio@vip.163.com (Xiongzheng Mu); E-mail address: wangsijia@picb.ac.cn (Sijia Wang)
Received Date: 2020-08-19
Accepted Date: 2020-11-13
Rev Recd Date: 2020-11-05

Available Online: 2020-12-30

Publish Date: 2021-02-20

Abstract

These authors contributed equally to this work.

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References(20)

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