Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes
Liang, Desheng, Cram, David S., Tan, Hu, Linpeng, Siyuan, Liu, Yingdi, Sun, Huaiyu, Zhang, Yu, Tian, Feng, Zhu, Hongmin, Xu, Mengnan, Wang, Hua, Yu, Fuli, Wu, Lingqian
Published in Genetics in medicine (01.09.2019)
Published in Genetics in medicine (01.09.2019)
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A retrospective single-center analysis of prenatal diagnosis and follow-up of 626 chinese patients with positive non-invasive prenatal screening results
Bu, Xiufen, Zhou, Shihao, Li, Xu, Li, Shihong, Li, Hongyu, Ding, Siyi, He, Jun, Linpeng, Siyuan
Published in Frontiers in genetics (19.09.2022)
Published in Frontiers in genetics (19.09.2022)
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A de novo heterozygous POU3F3 genotype for the p.(Q214) variant in a fetus with transient isolated bilateral mild ventriculomegaly: a case report and review of the literature
Zhang, Hongyun, Linpeng, Siyuan, Teng, Yanling, Peng, Can, Liang, Desheng, Li, Zhuo, Wu, Lingqian
Published in Frontiers in pediatrics (01.08.2023)
Published in Frontiers in pediatrics (01.08.2023)
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Prenatal genetic diagnosis of tetrasomy 18p from maternal trisomy 18p: a case report
Peng, Can, LinPeng, SiYuan, Bu, Xiufen, Jiang, XuanYu, Hu, LanPing, He, Jun, Zhou, ShiHao
Published in Molecular cytogenetics (27.06.2022)
Published in Molecular cytogenetics (27.06.2022)
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Cell-Free DNA Screening for Sex Chromosome Abnormalities and Pregnancy Outcomes, 2018-2020: A Retrospective Analysis
Lu, Yanmei, Zhou, Shihao, Linpeng, Siyuan, Ding, Siyi, Li, Shihong, Li, Yujiao, Shi, Liangcheng, He, Jun, Liu, Yalan
Published in Journal of personalized medicine (04.01.2022)
Published in Journal of personalized medicine (04.01.2022)
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A novel GJB1 mutation associated with X‐linked Charcot–Marie–Tooth disease in a large Chinese family pedigree
Liu, Yingdi, Xue, Jinjie, Li, Zhuo, Linpeng, Siyuan, Tan, Hu, Teng, Yanling, Liang, Desheng, Wu, Lingqian
Published in Molecular genetics & genomic medicine (01.03.2020)
Published in Molecular genetics & genomic medicine (01.03.2020)
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Association between in vitro fertilization-embryo transfer and hearing loss: risk factors for hearing loss among twin infants in a cohort study
Yin, Jinghua, Su, Yu, Siyuan, Linpeng, Yin, Fei, Wang, Weidong, Deng, Fengliang, Wang, Taosha
Published in European journal of pediatrics (01.03.2023)
Published in European journal of pediatrics (01.03.2023)
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Retrospective analysis of the risk factors associated with failure in obtaining effective noninvasive prenatal test results and pregnancy outcomes: a case-control study
Lu, Yanmei, Linpeng, Siyuan, Ding, Siyi, Li, Shihong, Shi, Liangcheng, Zuo, Xinwei, He, Jun, Liu, Yalan
Published in Expert review of molecular diagnostics (04.03.2022)
Published in Expert review of molecular diagnostics (04.03.2022)
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Deficiency in GnRH receptor trafficking due to a novel homozygous mutation causes idiopathic hypogonadotropic hypogonadism in three prepubertal siblings
Zhang, Rui, Linpeng, Siyuan, Li, Zhuo, Cao, Yingxi, Tan, Hu, Liang, Desheng, Wu, Lingqian
Published in Gene (30.08.2018)
Published in Gene (30.08.2018)
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Comparison of Third-Generation Sequencing and Routine Polymerase Chain Reaction in Genetic Analysis of Thalassemia
Xu, Zhen, Hu, Lanping, Liu, Yinyin, Peng, Can, Zeng, Guo, Zeng, Li, Yang, Mengyue, Linpeng, Siyuan, Bu, Xiufen, Jiang, Xuanyu, Xie, Tiantian, Chen, Libao, Zhou, Shihao, He, Jun
Published in Archives of pathology & laboratory medicine (1976) (01.03.2024)
Published in Archives of pathology & laboratory medicine (1976) (01.03.2024)
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The genetics and clinical outcomes in 151 cases of fetal growth restriction: A Chinese single-center study
Peng, Can, Hu, LanPing, Bu, XiuFen, Li, HongYu, Jiang, XuanYu, Zhou, ShiHao, Deng, Li, He, Jun, LinPeng, SiYuan
Published in European journal of obstetrics & gynecology and reproductive biology (01.07.2024)
Published in European journal of obstetrics & gynecology and reproductive biology (01.07.2024)
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Identification of Five Novel Mutations Causing Rare Lysosomal Storage Diseases
Yang, Chenxi, Pan, Jianyan, Linpeng, Siyuan, Li, Zhuo, Tan, Hu, Wu, Lingqian
Published in Medical science monitor (11.10.2019)
Published in Medical science monitor (11.10.2019)
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Molecular genetic study of 59 Chinese Oculocutaneous albinism families
Luo, Dan, Linpeng, Siyuan, Zeng, Lanlan, Tan, Hu, Li, Zhuo, Wu, Lingqian
Published in European journal of medical genetics (01.10.2019)
Published in European journal of medical genetics (01.10.2019)
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Identification of pathogenic mutations in 6 Chinese families with multiple exostoses by whole-exome sequencing and multiplex ligation-dependent probe amplification: Case series
Long, Xigui, Li, Zhuo, Huang, Yanru, Zhang, Li, Lv, Weigang, Teng, Yanling, Linpeng, Siyuan, Liang, Desheng, Wu, Lingqian
Published in Medicine (Baltimore) (01.05.2019)
Published in Medicine (Baltimore) (01.05.2019)
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Diagnosis of Joubert Syndrome 10 in a Fetus with Suspected Dandy-Walker Variant by WES: A Novel Splicing Mutation in OFD1
Wu, Lingqian, Liang, Desheng, Teng, Yanling, Cao, Yingxi, Pan, Jianyan, Liu, Jing, Linpeng, Siyuan, Li, Zhuo
Published in BioMed research international (01.01.2018)
Published in BioMed research international (01.01.2018)
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