Yu Sun

ORCID

Publication Activity (10 Years)

Years Active: 2017-2023
Publications (10 Years): 8

Top Venues

Molecular genetics & genomic medicine

Human mutation

Journal of clinical research in pediatric endocrinology

Journal of medical genetics

Leiden University Medical Center

Leiden University Medical Center (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Leiden University Medical Center Apr 01 2013 - Jan 01 2014

Netherlands

Post-doc :: Human and Clinical Genetics

Education History

Leiden University Medical Center Sep 22 2008 - Mar 26 2013

Netherlands

PHD :: Human and Clinical Genetics

Southeast University Sep 01 2005 - Jun 15 2008

China

MSC :: Biomedical Engineering

Southeast University Sep 01 2001 - Jun 15 2005

China

BSC :: Biomedical Engineering

Publications

Ying Duan, Wanqi Zheng, Yu Xia, Huiwen Zhang, Lili Liang, Ruifang Wang, Yi Yang, Kaichuang Zhang, Deyun Lu, Yuning Sun, Lian-Shu Han, Yong-Guo Yu, Xuefan Gu, Yu Sun, Bing Xiao, Wenjuan Qiu
Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients. Journal of medical genetics (2023)
Yu Sun, Jing Peng, Desheng Liang, Xiantao Ye, Na Xu, Linlin Chen, Dan Yan, Huiwen Zhang, Bing Xiao, Wenjuan Qiu, Yiping Shen, Nan Pang, Yingdi Liu, Chen Liang, Zailong Qin, Jingsi Luo, Fei Chen, Jingmin Wang, Zhixin Zhang, Haiyan Wei, Juan Du, Huifang Yan, Ruoyu Duan, Junyu Wang, Yu Zhang, Bingtao Hao, Kun Sun, Lingqian Wu, Yong-Guo Yu
Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study. Human mutation 43 (5) (2022)
Xiaomei Luo, Ying Duan, Di Fang, Yu Sun, Bing Xiao, Huiwen Zhang, Lian-Shu Han, Lili Liang, Zhuwen Gong, Xuefan Gu, Yong-Guo Yu, Wenjuan Qiu
Diagnosis and follow-up of glycogen storage disease (GSD) type VI from the largest GSD center in China. Human mutation 43 (5) (2022)
Dan Yan, Yu Sun, Na Xu, Yong-Guo Yu, Yongkun Zhan, null null
Genetic and clinical characteristics of 24 mainland Chinese patients with CTNNB1 loss-of-function variants. Molecular genetics & genomic medicine 10 (11) (2022)
Pingping Chen, Hexige Saiyin, Ruona Shi, Bin Liu, Xu Han, Yuping Gao, Xiantao Ye, Xiaofei Zhang, Yu Sun
Loss of SPACA1 function causes autosomal recessive globozoospermia by damaging the acrosome-acroplaxome complex. Human reproduction (Oxford, England) 36 (9) (2021)
Bing Xiao, Lili Wang, Huili Liu, Yanjie Fan, Yan Xu, Yu Sun, Wenjuan Qiu
Uniparental isodisomy caused autosomal recessive diseases: NGS-based analysis allows the concurrent detection of homogenous variants and copy-neutral loss of heterozygosity. Molecular genetics & genomic medicine 7 (10) (2019)
Xia Zhang, Yanjie Fan, Xiaomin Liu, Ming-Ang Zhu, Yu Sun, Hui Yan, Yunjuan He, Xiantao Ye, Xuefan Gu, Yong-Guo Yu
A Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome Journal of clinical research in pediatric endocrinology 11 (4) (2019)
Yu Sun, Guorui Hu, Jihang Luo, Di Fang, Yongguo Yu, Xiang Wang, Jing Chen, Wenjuan Qiu
Mutations in methionyl-tRNA synthetase gene in a Chinese family with interstitial lung and liver disease, postnatal growth failure and anemia. Journal of human genetics 62 (6) (2017)

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Publication Activity (10 Years)

Top Topics

Top Venues

Yu Sun