Publications by authors named "Siyuan Linpeng"

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Variant analysis of F8 in 123 patients with hemophilia A: Identification of 18 novel variants.
Yanling Teng, Wen Zhang, Huimin Zhu, Yingdi Liu, Siyuan Linpeng

Thromb Res· September 2025

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Non-invasive prenatal testing for dominant single-gene disorders using targeted next-generation sequencing.
Hongyun Zhang, Jun He, Yanling Teng, Qingxin Shi, Fang Liu, Siyuan Linpeng

QJM· May 2025

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Cost-effectiveness of different screening strategies for Down syndrome: a real-world analysis in 140,472 women.
Jing Liu, Shunyao Wang, Shihao Zhou, Di Ma, Lanping Hu, Siyuan Linpeng

Front Public Health· May 2025

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A retrospective single center analysis of fetuses with region of homozygosity detected by single nucleotide polymorphism array.
Xiufen Bu, Xiuyun Yu, Li Zeng, Guo Zeng, Rong Tan, Siyuan Linpeng

Sci Rep· April 2025

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The genetics and clinical outcomes in 151 cases of fetal growth restriction: A Chinese single-center study.
Can Peng, LanPing Hu, XiuFen Bu, HongYu Li, XuanYu Jiang, SiYuan LinPeng

Eur J Obstet Gynecol Reprod Biol· July 2024

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Comparison of Third-Generation Sequencing and Routine Polymerase Chain Reaction in Genetic Analysis of Thalassemia.
Zhen Xu, Lanping Hu, Yinyin Liu, Can Peng, Guo Zeng, Siyuan Linpeng

Arch Pathol Lab Med· March 2024

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Case report: Paternal uniparental disomy on chromosome 7 and homozygous mutation in a fetus with overweight after birth.
Xiufen Bu, Xu Li, Can Peng, Hongyu Li, Shihao Zhou, Siyuan Linpeng

Front Genet· October 2023

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A heterozygous genotype for the p.(Q214*) variant in a fetus with transient isolated bilateral mild ventriculomegaly: a case report and review of the literature.
Hongyun Zhang, Siyuan Linpeng, Yanling Teng, Can Peng, Desheng Liang

Front Pediatr· August 2023

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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.
Jinghua Yin, Yu Su, Linpeng Siyuan, Fei Yin, Weidong Wang

Eur J Pediatr· March 2023

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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.
Xiufen Bu, Shihao Zhou, Xu Li, Shihong Li, Hongyu Li, Siyuan Linpeng

Front Genet· September 2022

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Prenatal genetic diagnosis of tetrasomy 18p from maternal trisomy 18p: a case report.
Can Peng, SiYuan LinPeng, Xiufen Bu, XuanYu Jiang, LanPing Hu

Mol Cytogenet· June 2022

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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.
Yanmei Lu, Siyuan Linpeng, Siyi Ding, Shihong Li, Liangcheng Shi

Expert Rev Mol Diagn· March 2022

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Cell-Free DNA Screening for Sex Chromosome Abnormalities and Pregnancy Outcomes, 2018-2020: A Retrospective Analysis.
Yanmei Lu, Shihao Zhou, Siyuan Linpeng, Siyi Ding, Shihong Li

J Pers Med· January 2022

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Biochemical and genetic characteristics of 40 neonates with carnitine deficiency.
Xiaoqiang Zhou, Yanling Teng, Siyuan Lin-Peng, Zhuo Li, Lingqian Wu

Zhong Nan Da Xue Xue Bao Yi Xue Ban· October 2020

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A novel GJB1 mutation associated with X-linked Charcot-Marie-Tooth disease in a large Chinese family pedigree.
Yingdi Liu, Jinjie Xue, Zhuo Li, Siyuan Linpeng, Hu Tan

Mol Genet Genomic Med· March 2020

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Molecular genetic study of 59 Chinese Oculocutaneous albinism families.
Dan Luo, Siyuan Linpeng, Lanlan Zeng, Hu Tan, Zhuo Li

Eur J Med Genet· October 2019

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Identification of Five Novel Mutations Causing Rare Lysosomal Storage Diseases.
Chenxi Yang, Jianyan Pan, Siyuan Linpeng, Zhuo Li, Hu Tan

Med Sci Monit· October 2019

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Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes.
Desheng Liang, David S Cram, Hu Tan, Siyuan Linpeng, Yingdi Liu

Genet Med· September 2019

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Identification of six novel mutations in five infants with suspected maple syrup urine disease based on blood and urine metabolism screening.
Chenxi Yang, Siyuan Linpeng, Yingxi Cao, Lingqian Wu

Gene· August 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.
Xigui Long, Zhuo Li, Yanru Huang, Li Zhang, Weigang Lv, Siyuan Linpeng

Medicine (Baltimore)· May 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 .
Siyuan Linpeng, Jing Liu, Jianyan Pan, Yingxi Cao, Yanling Teng

Biomed Res Int· April 2019

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Next generation sequencing identified two novel mutations in NIPBL and a frame shift mutation in CREBBP in three Chinese children.
Hui Tang, Jing Guo, Siyuan Linpeng, Lingqian Wu

Orphanet J Rare Dis· February 2019

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Three Novel Mutations in FBN1 and TGFBR2 in Patients with the Syndromic Form of Thoracic Aortic Aneurysms and Dissections.
Yingxi Cao, Hu Tan, Zhuo Li, Siyuan Linpeng, Xigui Long

Int Heart J· September 2018

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Deficiency in GnRH receptor trafficking due to a novel homozygous mutation causes idiopathic hypogonadotropic hypogonadism in three prepubertal siblings.
Rui Zhang, Siyuan Linpeng, Zhuo Li, Yingxi Cao, Hu Tan

Gene· August 2018

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Truncating mutations of HIBCH tend to cause severe phenotypes in cases with HIBCH deficiency: a case report and brief literature review.
Hu Tan, Xin Chen, Weigang Lv, Siyuan Linpeng, Desheng Liang

J Hum Genet· July 2018

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