Publications by authors named "Danyan Zhuang"

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[Audiological characterization of the GJB2 gene c.109G>A (p.V37I) hotspot variant during childhood and comparison between family members].
Zhoushu Zheng, Jiangyang Xue, Lu Ding, Jiewen Pan, Meihong Wang, Danyan Zhuang

Zhonghua Yi Xue Yi Chuan Xue Za Zhi· September 2025

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[Application of whole exome sequencing for the diagnosis of early-onset genetic diseases among infants aged 0 ~ 6 months].
Danyan Zhuang, Fei Wang, Xiaoli Pan, Qi Yu, Lulu Yan

Zhonghua Yi Xue Yi Chuan Xue Za Zhi· May 2025

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Screening and Predictive Biomarkers for Down Syndrome Through Amniotic Fluid Metabolomics.
Li-Chao Zhang, Xiang-Chun Yang, Yong-Hong Jiang, Zhen Yang, Lu-Lu Yan, Dan-Yan Zhuang

Prenat Diagn· January 2025

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A statistical investigation of parameters associated with low cell-free fetal DNA fraction in maternal plasma for noninvasive prenatal testing.
Yun Pan, Xiaoli Pan, Danyan Zhuang, Ying Zhou, Jiangyang Xue

J Matern Fetal Neonatal Med· December 2024

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Carrier frequency and incidence estimation of deficiency of adenosine deaminase 2 in the Chinese population based on massive exome sequencing data.
Lulu Yan, Xiangwei Sun, Biying Lou, Yuxin Zhang, Danyan Zhuang

Clin Immunol· December 2024

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[Clinical features and genetic analysis of four children with Phelan-McDermid syndrome].
Lulu Yan, Yuxin Zhang, Liyun Tian, Yingwen Liu, Yan He, Danyan Zhuang

Zhonghua Yi Xue Yi Chuan Xue Za Zhi· September 2024

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Prospective Investigation of Optical Genome Mapping for Prenatal Genetic Diagnosis.
Min Xie, Zhao-Jing Zheng, Ying Zhou, Yu-Xin Zhang, Qiong Li, Dan-Yan Zhuang

Clin Chem· June 2024

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Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome.
Dan-Yan Zhuang, Shu-Ni Sun, Zhuo-Jie Hu, Min Xie, Yu-Xin Zhang

Mol Genet Genomic Med· March 2024

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The significance of machine learning in neonatal screening for inherited metabolic diseases.
Xiangchun Yang, Shuxia Ding, Jianping Zhang, Zhuojie Hu, Danyan Zhuang

Front Pediatr· March 2024

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Hydroxysafflor Yellow A-Induced Osteoblast Differentiation and Proliferation of BM-MSCs by Up-Regulating Nuclear Vitamin D Receptor.
Jiewen Pan, Youwei Bao, Shuqing Pan, Danyan Zhuang, Yanan Xu

Curr Mol Med· February 2024

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[Analysis of clinical features and variants of NF1 gene in 12 patients with Neurofibromatosis type 1].
Yuxin Zhang, Lulu Yan, Min Xie, Jiangyang Xue, Danyan Zhuang

Zhonghua Yi Xue Yi Chuan Xue Za Zhi· December 2023

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[Clinical and genetic analysis of two children with Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language due to de novo variants of MEF2C gene].
Lulu Yan, Danyan Zhuang, Youqu Tu, Yuxin Zhang, Yingwen Liu

Zhonghua Yi Xue Yi Chuan Xue Za Zhi· October 2023

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Prenatal diagnosis to identify compound heterozygous variants in PKDCC that causes rhizomelic limb shortening with dysmorphic features in a fetus from China.
Lulu Yan, Juan Cao, Yuxin Zhang, Yingwen Liu, Jinghui Zou, Danyan Zhuang

BMC Med Genomics· August 2023

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[A prospective study of genetic screening of 2 060 neonates by high-throughput sequencing].
Danyan Zhuang, Fei Wang, Shuxia Ding, Zhoushu Zheng, Qi Yu

Zhonghua Yi Xue Yi Chuan Xue Za Zhi· June 2023

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[Diagnosis a fetus with Coffin-Siris syndrome due to variant of SMARCA4 gene by whole exome sequencing].
Youwei Bao, Xiaoli Pan, Shuqing Pan, Lisha Ge, Danyan Zhuang

Zhonghua Yi Xue Yi Chuan Xue Za Zhi· December 2022

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Random forest classifier improving phenylketonuria screening performance in two Chinese populations.
Yingnan Song, Zhe Yin, Chuan Zhang, Shengju Hao, Haibo Li, Danyan Zhuang

Front Mol Biosci· October 2022

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[A large-scale retrospective analysis of copy number variations in single center using ACMG-ClinGen latest guidelines].
Yuxin Zhang, Jiangyang Xue, Lulu Yan, Yingwen Liu, Danyan Zhuang

Zhonghua Yi Xue Yi Chuan Xue Za Zhi· August 2022

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[Enlarged multicystic dysplastic kidneys with oligohydramnios during infancy caused by NPHP3 gene mutation].
Youwei Bao, Xiaoli Pan, Shuqing Pan, Danyan Zhuang, Haibo Li

Zhonghua Yi Xue Yi Chuan Xue Za Zhi· May 2022

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Identification of Six Novel Variants of in Isobutyryl-CoA Dehydrogenase Deficiency With Increased C4 Carnitine Using Tandem Mass Spectrometry and NGS Sequencing.
Dan-Yan Zhuang, Shu-Xia Ding, Fei Wang, Xiang-Chun Yang, Xiao-Li Pan

Front Genet· January 2022

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Molecular genotyping of G6PD mutations for neonates in Ningbo area.
Jiewen Pan, Danyan Zhuang, Qi Yu, Xiaoli Pan, Youwei Bao

J Clin Lab Anal· December 2021

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Newborn Screening and Genetic Analysis Identify Six Novel Genetic Variants for Primary Carnitine Deficiency in Ningbo Area, China.
Xiangchun Yang, Qiong Li, Fei Wang, Lulu Yan, Danyan Zhuang

Front Genet· June 2021

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[Study on newborn screening for Duchenne muscular dystrophy and diagnostic strategy].
Youwei Bao, Xiaoli Pan, Jiewen Pan, Shuqing Pan, Danyan Zhuang

Zhonghua Yi Xue Yi Chuan Xue Za Zhi· May 2021

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[Prenatal diagnosis and genetic analysis of two fetuses with paternally derived 17q12 microdeletions].
Yuxin Zhang, Yingwen Liu, Lulu Yan, Danyan Zhuang, Haibo Li

Zhonghua Yi Xue Yi Chuan Xue Za Zhi· March 2021

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[Clinical features and SLC6A8 gene mutations of cerebral creatine deficiency syndrome I: an analysis of two families].
Wei-Hua Sun, Dan-Yan Zhuang, Yao Wang, Fei-Fan Xiao, Meng-Yuan Wu

Zhongguo Dang Dai Er Ke Za Zhi· May 2020

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Chinese newborn screening for the incidence of G6PD deficiency and variant of G6PD gene from 2013 to 2017.
Zhidai Liu, Chaowen Yu, Qingge Li, Ren Cai, Yiping Qu, Danyan Zhuang

Hum Mutat· January 2020

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