Explanipedia

Microstructure-based prediction of tensile anisotropy in spray-forming 7055 aluminum alloy die forgings Open

Cai Hu, Baoshuai Han, Yanjin Xu, Aihua Yin, Weichang Wei , et al. · 2025

Clinical utility of exome sequencing in hearing loss: a retrospective cohort study Open

Chang Liu, Yanlin Huang, Anpeng Fu, Yunan Wang, Jing Wu , et al. · 2025

Background Hearing loss (HL) is a prevalent sensorineural disorder with a highly heterogeneous etiology. Next-generation sequencing (NGS) has revolutionized the genetic testing landscape for diseases characterized by high genetic and allel…

Insufficient gene expression and lost gene regulatory network may underlie the mechanism of Hirschsprung Disease in 5p–syndrome Open

Yizhao Luan, Peng Li, Yuanyuan Luo, Hong Zhang, Xiao-chun Zhu , et al. · 2025

Cri-du-chat syndrome (CDC, OMIM 123450) is a rare chromosomal syndrome that results from partial deletions on the short arm of chromosome 5, known as 5p minus. Substantial clinical and genetic heterogeneity were observed in CDC patients. L…

Efficacy and Safety of Anti-Prediabetic Drugs in Patients with Prediabetes: A Bayesian Network Meta-Analysis Open

Yike Wu, Zihan Wang, Adili Tuersun, Qi Yu, Yu Zhong , et al. · 2025

Microstructure-Based Prediction of Tensile Anisotropy in spray-forming 7055 Aluminum Alloy Die Forgings Open

Hu Cai, Baoshuai Han, Yanjin Xu, Aihua Yin, Weichang Wei , et al. · 2025

Tunable cavity coupling to spin defects in 4H-silicon-carbide-on-insulator platform Open

Tongyuan Bao, Qi Luo, Aihua Yin, Yao Zhang, Haibo Hu , et al. · 2024

Silicon carbide (SiC) has attracted significant attention as a promising quantum material due to its ability to host long-lived, optically addressable color centers with solid-state photonic interfaces. The CMOS compatibility of 4H-SiCOI (…

Self-learning neural network as a prediction model in non-invasive prenatal testing to detect fetal SNVs Open

Yiming Qi, Chengbin Hu, Jiexia Yang, Ya Gao, Aihua Yin · 2024

High positive predictive value of CNVs detected by clinical exome sequencing in suspected genetic diseases Open

Yimo Zeng, Hongke Ding, Xingwang Wang, Yanlin Huang, Ling Liu , et al. · 2024

Two fetuses of hereditary tubulinopathies with <i>TUBB</i> deficiency Open

Yue Zeng, Hao Ding, Yuanming Qi, Chenghui Yang, Lihua Yu , et al. · 2024

Learning points for cliniciansThis report identified two novel missense TUBB variants in two prenatal cases diagnosed with tubulinopathies.This report highlights molecular and MRI diagnosis of tubulinopathies is crucial for diagnosis and g…

High burden of human papillomavirus infection among men in Guangzhou, South China: Implications for HPV vaccination strategies Open

Pan Liu, Xiaohan Yang, Hongyu Zhao, Lihua Liang, Minchai Chen , et al. · 2024

The epidemiological and clinical aspects of Human Papillomavirus (HPV) infection in women have been extensively studied. However, there is a lack of information regarding HPV characteristics in males. In this study, we conducted a retrospe…

Emergence and circulation of enterovirus B species in infants in southern China: A multicenter retrospective analysis Open

Xiaohan Yang, Yudan Wu, Hongyu Zhao, Pan Liu, Lihua Liang , et al. · 2024

Our study is the first to demonstrate the emergence and widespread circulation of EV-B species, mainly CVB3, E11, and E18, in southern China, primarily affecting young infants. This research provides valuable insights for future epidemic a…

Deep metagenomic characterization of the gut virome in pregnant women with preeclampsia Open

L Lv, Jiying Wen, Yue Zhang, Ruochun Guo, Hui Li , et al. · 2024

Preeclampsia (PE), a pregnancy-specific syndrome, has been associated with the gut bacteriome. Here, to investigate the impact of the gut virome on the development of PE, we identified over 8,000 nonredundant viruses from the fecal metagen…

Epigenetic phenotype of plasma cell-free DNA in the prediction of early-onset preeclampsia Open

Wei He, Yi Zhang, Kai Wu, Yunan Wang, Xin Zhao , et al. · 2023

Pregnant women with early-onset preeclampsia exhibit DNA methylation and nucleosome positioning patterns in placental and plasma DNA.

When NIPT meets WES, prenatal diagnosticians face the dilemma: genetic etiological analysis of 2,328 cases of NT thickening and follow-up of pregnancy outcomes Open

Xueqi Ji, Q Li, Yiming Qi, Xingwang Wang, Hongke Ding , et al. · 2023

Objective: To assess the performance of diverse prenatal diagnostic approaches for nuchal translucency (NT) thickening and to investigate the optimal prenatal screening or diagnostic action with a NT thickening of 95th percentile-3.50 mm. …

Association between cell-free DNA fetal fraction and pregnant character: a retrospective cohort study of 27,793 maternal plasmas Open

Yaping Hou, Jiexia Yang, Fuli Deng, Fanghua Wang, Haishan Peng , et al. · 2023

Prenatal diagnosis of cleft lip and palate: a study of clinical utility Open

Yan Zhang, Degang Wang, Degang Wang, Jian Lü, Aihua Yin , et al. · 2023

Background When a fetus was found has cleft lip palate (CL/P) by prenatal anatomical ultrasound assessment, it is difficult to determine the CL/P is isolated or companied with other animalities such as intellectual disability. We preformed…

Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study Open

Yanlin Huang, Chang Liu, Hongke Ding, Yunan Wang, Lihua Yu , et al. · 2023

Background: Prenatal diagnosis of fetal short long bones (SLBs) was reported to be associated with skeletal dysplasias, chromosomal abnormalities, and genetic syndromes. This study aims to identify the genetic causes for fetal short long b…

Combined fetal fraction to analyze the Z-score accuracy of noninvasive prenatal testing for fetal trisomies 13, 18, and 21 Open

Jiexia Yang, Jing Wu, Dongmei Wang, Yaping Hou, Fangfang Guo , et al. · 2023

Cervical HPV infection in Guangzhou, China: an epidemiological study of 198,111 women from 2015 to 2021 Open

Xiaohan Yang, Yuanyuan Li, Yuan Tang, Zhiyu Li, Sanfeng Wang , et al. · 2023

Persistent high-risk human papillomavirus (HPV) infection is the pivotal cause of cervical carcinogenesis. HPV types distribution varies greatly by region, and its long-term changes of prevalence remain to be fully characterized in China. …

A spectrum of clinical severity of recessive titinopathies in prenatal Open

Yiming Qi, Xueqi Ji, Hongke Ding, Yunan Wang, Xin Liu , et al. · 2023

Variants in TTN are associated with a broad range of clinical phenotypes, from dominant adult-onset dilated cardiomyopathy to recessive infantile-onset myopathy. However, few foetal cases have been reported for multiple reasons. Next-gener…

The clinical utility of genetic technologies in prenatally diagnosed cleft lip and or palate – a cohort study Open

Yan Zhang, Degang Wang, Jian Lü, Aihua Yin, Haowen Tan , et al. · 2023

Background When a fetus was found has cleft lip palate (CL/P) by prenatal anatomical ultrasound assessment, it is difficult to determine the CL/P is isolated or companied with other animalities such as intellectual disability. We preformed…

A novel non-sense variant in the OFD1 gene caused Joubert syndrome Open

Chen Li, Xingwang Wang, Fake Li, Hongke Ding, Ling Liu , et al. · 2023

Background: Joubert syndrome (JBS) is a rare neurodevelopmental disorder associated with progressive renal, liver, and retinal involvement that exhibits heterogeneity in both clinical manifestations and genetic etiology. Therefore, it is d…

Epigenetic phenotype of plasma cell-free DNA in the prediction of early-onset preeclampsia Open

Wei He, Yongqiang Zhang, Kai Wu, Yunan Wang, Xin Zhao , et al. · 2023

In the current study, we sought to characterise the methylation haplotypes and nucleosome positioning patterns of placental DNA and plasma cell-free DNA of pregnant women with early-onset preeclampsia using whole genome bisulphite sequenci…

Deep metagenomic characterization of gut microbial community and function in preeclampsia Open

Lijuan Lv, Shenghui Li, Jiying Wen, Guangyang Wang, Hui Li , et al. · 2022

Preeclampsia (PE) is a pregnancy complication characterized by severe hypertension and multiple organ damage. Gut microbiota has been linked to PE by previous amplicon sequencing studies. To resolve the PE gut microbiota in a higher taxono…

Performances of noninvasive prenatal detection for fetal chromosome aneuploidy based on Semiconductor Sequencing Platform (SSP) of difference sequencing depths Open

Jiexia Yang, Jing Wu, Dongmei Wang, Haishan Peng, Yixia Wang , et al. · 2022

Objective： To evaluate the performance of non-invasive prenatal testing (NIPT) for chromosome aneuploidy in different sequencing depths for all chromosome aneuploidies. Methods: A cohort of 61581 pregnancies were recruited to review the re…

Novel Biallelic Variant in the BRAT1 Gene Caused Nonprogressive Cerebellar Ataxia Syndrome Open

Yiming Qi, Xueqi Ji, Hongke Ding, Ling Liu, Yan Zhang , et al. · 2022

Recessive mutations in BRAT1 cause lethal neonatal rigidity and multifocal seizure syndrome (RMFSL), a phenotype characterized by neonatal microcephaly, hypertonia, and refractory epilepsy with premature death. Recently, attenuated disease…

Identification of Key Modules and Genes Associated with Major Depressive Disorder in Adolescents Open

Bao Zhao, Qingyue Fan, Jintong Liu, Aihua Yin, Pingping Wang , et al. · 2022

Major depressive disorder (MDD) is a leading cause of disability worldwide. Adolescence is a crucial period for the occurrence and development of depression. There are essential distinctions between adolescent and adult depression patients…

A Novel Multi-Exon Deletion of PACS1 in a Three-Generation Pedigree: Supplements to PACS1 Neurodevelopmental Disorder Spectrum Open

Yuan Liu, Hongke Ding, Tizhen Yan, Ling Liu, Lihua Yu , et al. · 2021

PACS1 neurodevelopmental disorder ( PACS1 -NDD) is a category of rare disorder characterized by intellectual disability, speech delay, dysmorphic facial features, and developmental delay. Other various physical abnormalities of PACS1 -NDD …

Performances of NIPT for copy number variations at different sequencing depths using the semiconductor sequencing platform Open

Jiexia Yang, Jing Wu, Haishan Peng, Yaping Hou, Fangfang Guo , et al. · 2021

Pregnancy Outcomes in Trisomy 16 Mosaicism Pregnancies Detected by NIPT, A Series of Case Reports Open

Haishan Peng, Jiexia Yang, Dongmei Wang, Fangfang Guo, Yaping Hou , et al. · 2021

Trisomy 16 s often associated with a high risk of abnormal outcome. A retrospective analysis of 14 cases with T16 high risk in NIPT, and all had undergone prenatal diagnosis, including karyotype and CMA. NIPT had detected 11 of T16, 2 of T…

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