Newborn Screening for Methylmalonic Acidemia in a Chinese Population: Molecular Genetic Confirmation and Genotype Phenotype Correlations von Zhou, Wei, Li, Huizhong, Wang, Chuanxia, Wang, Xiuli, Gu, Maosheng

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Newborn Screening for Isovaleric Acidemia: Treatment With Pivalate‐Generating Antibiotics Contributed to False C5‐Carnitine Positivity in a Chinese Population von Zhou, Wei, Huang, Ting, Li, Huizhong, Gu, Maosheng

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Identification and analyzes of DUOX2 mutations in two familial congenital hypothyroidism cases von Li, Liangshan, Liu, Wenmiao, Zhang, Liqin, Wang, Fang, Wang, Fengqi, Gu, Maosheng, Wang, Xiuli, Liu, Shiguo

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Clinical management of pregnancies with positive screening results for rare autosomal aneuploidies at a single center von Gou, Lingshan, Fang, Yuan, Wang, Na, Zhang, Man, Liu, Tianya, Wang, Yi, Hu, Shunan, Zhang, Yan, Wu, Qin, Wang, Yifan, Suo, Feng, Gu, Maosheng

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Discordant performances of non-invasive prenatal testing for foetal trisomy 21 screening in subgroups of pregnancies von Suo, Feng, Wang, Yi, Wang, Na, Wang, Yawen, Liao, Mingming, Wang, Jingjing, Wang, Chuanxia, Zhang, Yan, Zhang, Man, Zhang, Chu, Gu, Maosheng, Gou, Lingshan

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Quantification of Differential Metabolites in Dried Blood Spots Using Second-Tier Testing for SCADD/IBDD Disorders Based on Large-Scale Newborn Screening in a Chinese Population von Zhou, Wei, Cai, Heng, Li, Huizhong, Ji, Zhe, Gu, Maosheng

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Hepatic protein phosphatase 1 regulatory subunit 3G alleviates obesity and liver steatosis by regulating the gut microbiota and bile acid metabolism von Zhang, Chu, Wang, Gui, Yin, Xin, Gou, Lingshan, Guo, Mengyuan, Suo, Feng, Zhuang, Tao, Yuan, Zhenya, Liu, Yanan, Gu, Maosheng, Yao, Ruiqin

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Biochemical, Molecular, and Clinical Characterization of Patients With Primary Carnitine Deficiency via Large-Scale Newborn Screening in Xuzhou Area von Zhou, Wei, Li, Huizhong, Huang, Ting, Zhang, Yan, Wang, Chuanxia, Gu, Maosheng

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Clinical value for the detection of fetal chromosomal deletions/duplications by noninvasive prenatal testing in clinical practice von Gou, Lingshan, Suo, Feng, Wang, Yi, Wang, Na, Wu, Qin, Hu, Shunan, Wang, Peng, Gu, Lize, Zhang, Man, Wang, Chuanxia, Zhang, Yan, Yin, Xin, Zhang, Peng, Xu, Jian, Wang, Xingqi, Gu, Maosheng

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Reference Standards for Newborn Screening of Metabolic Disorders by Tandem Mass Spectrometry: A Nationwide Study on Millions of Chinese Neonatal Populations von He, Falin, Yang, Rulai, Huang, Xinwen, Tian, Yaping, Pei, Xiaofang, Bohn, Mary Kathryn, Zou, Lin, Wang, Yan, Li, Haibo, Wang, Ting, Gu, Maosheng, Jiang, Tao, Chen, Xigui, Zou, Hui, Wei, Hongwei, Tian, Weibing, Tang, Tian, Adeli, Khosrow, Wang, Zhiguo

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Non-invasive prenatal testing in detecting sex chromosome aneuploidy: A large-scale study in Xuzhou area of China von Suo, Feng, Wang, Chuangxia, Liu, Tianya, Fang, Yuan, Wu, Qin, Gu, Maosheng, Gou, Lingshan

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Development of a fast and robust liquid chromatography-mass spectrometry-based metabolomics analysis method for neonatal dried blood spots von Guo, Xingyu, Zhou, Lina, Wang, Yi, Suo, Feng, Wang, Chuanxia, Zhou, Wei, Gou, Lingshan, Gu, Maosheng, Xu, Guowang

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Decreased PPP1R3G in pre-eclampsia impairs human trophoblast invasion and migration via Akt/MMP-9 signaling pathway von Shi, Huimin, Kong, Renyu, Miao, Xu, Gou, Lingshan, Yin, Xin, Ding, Yuning, Cao, Xiliang, Meng, Qingyong, Gu, Maosheng, Suo, Feng

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Healthy Plasma Exosomes Exert Potential Neuroprotective Effects against Methylmalonic Acid-Induced Hippocampal Neuron Injury von Zhou, Wei, Li, Huizhong, Song, Jinxiu, Suo, Feng, Gu, Maosheng, Qi, Suhua

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Next-generation sequencing of NKX2.1, FOXE1, PAX8, NKX2.5, and TSHR in 100 Chinese patients with congenital hypothyroidism and athyreosis von Wang, Fang, Liu, Chang, Jia, Xiuhua, Liu, Xiangju, Xu, Yinglei, Yan, Shengli, Jia, Xuewen, Huang, Zuzhou, Liu, Shiguo, Gu, Maosheng

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Corrigendum: Decreased PPP1R3G in pre-eclampsia impairs human trophoblast invasion and migration via Akt/MMP-9 signaling pathway von Huimin Shi, Renyu Kong, Xu Miao, Lingshan Gou, Xin Yin, Yuning Ding, Xiliang Cao, Qingyong Meng, Maosheng Gu, Feng Suo

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GJB2 as Well as SLC26A4 Gene Mutations are Prominent Causes for Congenital Deafness von Fang, Yuan, Gu, Maosheng, Wang, Chuanxia, Suo, Feng, Wang, Guangming, Xia, Yujuan

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Application of karyotype analysis combined with BACs-on-Beads for prenatal diagnosis von Fang, Yuan, Wang, Guangming, Gu, Lize, Wang, Jingjing, Suo, Feng, Gu, Maosheng, Gou, Lingshan

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The Diagnosis Pattern of Mid-Trimester Fetal Chromosomal Aneuploidy in Xuzhou and the Clinical Applications von Fang, Yuan, Wang, Guangming, Wang, Chuanxia, Suo, Feng, Gu, Maosheng, Xia, Yujuan

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Targeted exome sequencing strategy (NeoEXOME) for Chinese newborns using a pilot study with 3423 neonates von Cao, Ziyang, He, Xiaoyan, Wang, Dongjuan, Gu, Maosheng, Suo, Feng, Qiang, Rong, Zhang, Ruixue, Song, Chengrong, Wang, Xiaohua, Zhu, Bo, Cao, Donghua, Yu, Haihua, Qu, Yiping, Shen, Guosong, Wu, Jian, Wang, Pengpeng, Wang, Jinxia, Zhang, Hongyang, Yan, Zijun, Yu, Guangjun, Zou, Lin

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