Case report: Prenatal diagnosis of Kagami–Ogata syndrome in a Chinese family
Hu, Junjie, Zhang, Ying, Yang, Yanmei, Wang, Liya, Sun, Yixi, Dong, Minyue
Published in Frontiers in genetics (11.08.2022)
Published in Frontiers in genetics (11.08.2022)
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Case report: FOXP1 syndrome caused by a de novo splicing variant (c.1652+5 G>A) of the FOXP1 gene
Chen, Min, Sun, Yixi, Qian, Yeqing, Chen, Na, Li, Hongge, Wang, Liya, Dong, Minyue
Published in Frontiers in genetics (05.08.2022)
Published in Frontiers in genetics (05.08.2022)
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Novel homozygous silent mutation of ITGB3 gene caused Glanzmann thrombasthenia
Wang, Zhengrong, Xu, Yuqing, Sun, Yixi, Wang, Shuang, Dong, Minyue
Published in Frontiers in pediatrics (10.01.2023)
Published in Frontiers in pediatrics (10.01.2023)
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Prenatal diagnosis of trisomy 8 mosaicism, initially identified by cffDNA screening
Hu, Junjie, Yan, Kai, Jin, Pengzhen, Yang, Yanmei, Sun, Yixi, Dong, Minyue
Published in Molecular cytogenetics (01.09.2022)
Published in Molecular cytogenetics (01.09.2022)
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Identification of a likely pathogenic structural variation in the LAMA1 gene by Bionano optical mapping
Chen, Min, Zhang, Min, Qian, Yeqing, Yang, Yanmei, Sun, Yixi, Liu, Bei, Wang, Liya, Dong, Minyue
Published in Npj genomic medicine (12.08.2020)
Published in Npj genomic medicine (12.08.2020)
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Case Report: De novo DDX3X mutation caused intellectual disability in a female with skewed X-chromosome inactivation on the mutant allele
Sun, Yixi, Qian, Yangwen, Sun, Hai-Xi, Chen, Min, Luo, Yuqin, Xu, Xiaojing, Yan, Kai, Wang, Liya, Hu, Junjie, Dong, Minyue
Published in Frontiers in genetics (10.10.2022)
Published in Frontiers in genetics (10.10.2022)
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Synonymous variant at the terminal nucleotide in exon 3 of F7 causes abnormal splicing: A case report
Wang, Liya, Zeng, Wenshan, Qian, Yeqing, Sun, Yixi, Chen, Min, Liu, Bei, Hu, Junjie, Yu, Ping, Dong, Minyue
Published in Molecular genetics & genomic medicine (01.07.2024)
Published in Molecular genetics & genomic medicine (01.07.2024)
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A Novel Silent Mutation in the L1CAM Gene Causing Fetal Hydrocephalus Detected by Whole-Exome Sequencing
Sun, Yixi, Li, Yanfeng, Chen, Min, Luo, Yuqin, Qian, Yeqing, Yang, Yanmei, Lu, Hong, Lou, Fenlan, Dong, Minyue
Published in Frontiers in genetics (11.09.2019)
Published in Frontiers in genetics (11.09.2019)
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Heterozygous Deletion of the SHOX Gene Enhancer in two Females With Clinical Heterogeneity Associating With Skewed XCI and Escaping XCI
Sun, Yixi, Luo, Yuqin, Qian, Yeqing, Chen, Min, Wang, Liya, Li, Hongge, Zou, Yu, Dong, Minyue
Published in Frontiers in genetics (06.11.2019)
Published in Frontiers in genetics (06.11.2019)
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Plant phenolic extracts for the quality protection of frying oil during deep frying: Sources, effects, and mechanisms
Wang, Fa, Sun, Yixi, Li, Shanshan, Yan, Jing, Qin, Wen, Saleh, Ahmed S.M., Zhang, Qing
Published in Grain & oil science and technology (Online) (01.09.2023)
Published in Grain & oil science and technology (Online) (01.09.2023)
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Non-invasive prenatal screening for Emanuel syndrome
Luo, Yuqin, Lin, Jie, Sun, Yixi, Qian, Yeqing, Wang, Liya, Chen, Min, Dong, Minyue, Jin, Fan
Published in Molecular cytogenetics (04.03.2020)
Published in Molecular cytogenetics (04.03.2020)
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Validation and depth evaluation of recurrent neural network‐based ultra low‐pass genome sequencing for the detection of absence of heterozygosity: A multi‐centre study of 409 cases
Qian, Yeqing, Zhu, Jianjun, Tang, Zhiguo, Sun, Yan, Wang, Zhonghua, Tang, Fei, Yang, Yun, Fan, Linlin, Sun, Yixi, Liu, Bei, Chen, Min, Luo, Yuqin, Hu, Junjie, Yan, Kai, Man, Jianfen, Wang, Lina, Jia, Cangcang, Tang, Ping, Zhu, Xinyi, Wang, Chaohong, Tang, Junxiang, Xia, Yuanyuan, Guo, Xueqin, Zhang, Kang, Wang, Xiaoli, Li, Suping, Song, Lijie, Zhu, Jiansheng, Dong, Minyue
Published in Clinical and translational medicine (01.07.2024)
Published in Clinical and translational medicine (01.07.2024)
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Single‐cell landscape analysis reveals systematic senescence in mammalian Down syndrome
Chen, Yao, Xiao, Yanyu, Zhang, Yanye, Wang, Renying, Wang, Feixia, Gao, Huajing, Liu, Yifeng, Zhang, Runju, Sun, Huiyu, Zhou, Ziming, Wang, Siwen, Chen, Kai, Sun, Yixi, Tu, Mixue, Li, Jingyi, Luo, Qiong, Wu, Yiqing, Zhu, Linling, Huang, Yun, Sun, Xiao, Guo, Guoji, Zhang, Dan
Published in Clinical and translational medicine (01.07.2023)
Published in Clinical and translational medicine (01.07.2023)
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The application of NIPT using combinatorial probe-anchor synthesis to identify sex chromosomal aneuploidies (SCAs) in a cohort of 570 pregnancies
Li, Hongge, Lei, Yu, Zhu, Hui, Luo, Yuqin, Qian, Yeqing, Chen, Min, Sun, Yixi, Yan, Kai, Yang, Yanmei, Liu, Bei, Wang, Liya, Huang, Yingzhi, Hu, Junjie, Xu, Jianyun, Dong, Minyue
Published in Molecular cytogenetics (03.12.2018)
Published in Molecular cytogenetics (03.12.2018)
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Journal Article
HSD17B12 dosage insufficiency induced premature ovarian insufficiency in humans and mice
Wang, Qiqi, Chen, Qing, Zhang, Yixin, Zhang, Xue, Liu, Chunyu, Wang, Daqi, Wu, Yanhua, Sun, Yixi, Zhang, Ling, Song, Chengcheng, Wang, Yongming, An, Yanpeng, Tang, Huiru, Xu, Congjian, Wu, Yanting, Jin, Li, Huang, Hefeng, Zhang, Feng
Published in Clinical and translational medicine (01.02.2022)
Published in Clinical and translational medicine (01.02.2022)
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Enhanced catalytic performance of Cu-doped MnFe2O4 magnetic ferrites: Tetracycline hydrochloride attacked by superoxide radicals efficiently in a strong alkaline environment
Sun, Yixi, Zhou, Jiabin, Liu, Dan, Li, Xi, Liang, Hong
Published in Chemosphere (Oxford) (01.06.2022)
Published in Chemosphere (Oxford) (01.06.2022)
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