Explanipedia

Prenatal diagnosis of geleophysic dysplasia with ADAMTSL2 mutations Open

Yu-Ting Jiang, Shaobin Lin, Chen Huang, Liu Du, Hongning Xie · 2025

Two missense ADAMTSL2 variants in this case may add new evidence to the molecular diagnosis of GD. Prenatal ultrasound assessment of the fetal phenotype helps us to better interpret fetal genotype, and find the potential causative variants.

Clinical Phenotype and Genetic Analysis of a Family with Hereditary Antithrombin Deficiency Caused by SERPINC1 Gene Mutation Open

Yating Zhao, Liqun Du, Shaobin Lin, Bai Lu, Qianming Chen , et al. · 2025

Inherited deficiency of the antithrombin (hereditary antithrombin deficiency, AT deficiency, OMIM #613118) is a relatively rare (1:2,000–3,000) autosomal-dominant disorder with high risk of venous thromboembolism. The molecular basis of th…

Shared genetic architecture of non‐viral cirrhosis with several pleiotropic traits: A nested case‐control study in the <span>UK</span> Biobank Open

Jinyoung Byun, Hyun‐seok Kim, Younghun Han, Aaron P. Thrift, Shaobin Lin , et al. · 2024

Background and Aims Cirrhosis is a leading cause of liver‐related mortality and a multifactorial disease. To date, the complex genetic architecture of non‐viral cirrhosis has not been fully explored. Cross‐trait genetic correlations can el…

Contribution of genetic variants to congenital heart defects in both singleton and twin fetuses: a Chinese cohort study Open

Shaobin Lin, Shanshan Shi, Jian Lü, Zhiming He, Danlun Li , et al. · 2024

Do <span>anti‐CD36</span> antibodies cause only fetal/neonatal alloimmune thrombocytopenia? Open

Quan‐Rui Liu, Jingyu Liu, Jingya Zhao, Shaobin Lin, Jing Deng , et al. · 2023

British Journal of HaematologyEarly View LETTER TO THE EDITOR Do anti-CD36 antibodies cause only foetal/neonatal alloimmune thrombocytopenia? Quan-Rui Liu, Quan-Rui Liu orcid.org/0009-0006-7953-1016 Department of Obstetrics and Gynecology,…

Integrative profiling of extrachromosomal circular DNA in placenta and maternal plasma provides insights into the biology of fetal growth restriction and reveals potential biomarkers Open

Minhuan Lin, Yiqing Chen, Shuting Xia, Zhiming He, Xuegao Yu , et al. · 2023

Introduction: Fetal growth restriction (FGR) is a placenta-mediated pregnancy complication that predisposes fetuses to perinatal complications. Maternal plasma cell-free DNA harbors DNA originating from placental trophoblasts, which is pro…

When a vesicular placenta meets a live fetus: case report of twin pregnancy with a partial hydatidiform mole Open

Minhuan Lin, Jinzhu Chen, Bing Liao, Zhiming He, Shaobin Lin , et al. · 2021

Mosaic duplication of 8q24.1q24.3 detected by chromosomal microarray but not karyotyping in two unrelated fetuses with cardiac defects Open

Shaobin Lin, Shufang Huang, Xueling Ou, Heng Gu, Yonghua Wang , et al. · 2021

Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family Open

Shaobin Lin, Zhiming He, Linhuan Huang, Jialiu Liu, Ting Lei , et al. · 2021

Familial Rubinstein-Taybi syndrome (RSTS) with recurrent RSTS siblings and apparently unaffected parents is rare; such cases might result from parental somatic and/or germline mosaicism. Parental low-level (<10%) germline mosaicism in t…

Evaluation of a Microhaplotype-Based Noninvasive Prenatal Test in Twin Gestations: Determination of Paternity, Zygosity, and Fetal Fraction Open

Zhaochen Bai, Hu Zhao, Shaobin Lin, Linhuan Huang, Zhiming He , et al. · 2020

As a novel type of genetic marker, the microhaplotype has shown promising potential in forensic research. In the present study, we analyzed maternal plasma cell-free DNA (cfDNA) samples from twin pregnancies to validate microhaplotype-base…

A child with a novel DDX3X variant mimicking cerebral palsy: a case report Open

Liqin Hu, Xiaoqin Xin, Shaobin Lin, Min Luo, Junkun Chen , et al. · 2020

Discordance of cardiovascular abnormalities in a monozygotic twin pair carrying a class II 1q21.1 microdeletion Open

Shanshan Shi, Shaobin Lin, Danlei Cai, Wangrong Wen, Ruiman Li · 2020

A novel β-thalassemia variant at HBB:c.14delC (Codon 4, -C) identified via next-generation sequencing Open

Junkun Chen, Shaobin Lin, Jinghui Gan, Xiaoqin Xin, Jungao Huang · 2020

We identified a novel frameshift variant of β-thal. NGS has the potential for identifying rare and novel thalassemia variants and broadening the spectrum of thalassemia screening and thus may contribute to effective prevention of thalassem…

Cerebral palsy needs a review: a novel DDX3X mutation in a family Open

Liqin Hu, Xiaoqin Xin, Shaobin Lin, Min Luo, Junkun Chen , et al. · 2019

Cerebral palsy (CP) is a non-progressive disorder of movement and posture due to a static insult to the brain. Some conditions of other disorders can mimic CP, and thus CP needs to be pursued for its underlying cause. In this paper, we rep…

Clinical value of genetic analysis in prenatal diagnosis of short femur Open

Jialiu Liu, Linhuan Huang, Zhiming He, Shaobin Lin, Ye Wang , et al. · 2019

Background Fetal femur length (FL) is an important biometric index in prenatal screening. The etiology of short femur is diverse, with some pathogenic causes leading to adverse outcomes. To improve the accuracy and practicability of diagno…

Is an analysis of copy number variants necessary for various types of kidney ultrasound anomalies in fetuses? Open

Shaobin Lin, Shanshan Shi, Linhuan Huang, Ting Lei, Danlei Cai , et al. · 2019

Chromosomal abnormalities detected by karyotyping and microarray analysis in twins with structural anomalies Open

Lin Li, Zhiming He, Xuan Huang, Shaobin Lin, Junrong Wu , et al. · 2019

Objectives To evaluate the incidence and types of chromosomal abnormalities detected in twins with structural anomalies and compare their distribution according to chorionicity and amnionicity and by structural‐anomaly type. The added valu…

Prenatal diagnosis of Pallister‐Killian syndrome in one twin Open

Lin Li, Linhuan Huang, Xuan Huang, Shaobin Lin, Zhiming He , et al. · 2018

Key Clinical Message Pallister‐Killian syndrome ( PKS ) is often incidentally diagnosed prenatally due to ultrasound abnormalities or advanced maternal age. Severely shortened limbs could be the most outstanding abnormal observation in a f…

Unusual twinning: Additional findings during prenatal diagnosis of twin zygosity by single nucleotide polymorphism (SNP) array Open

Zhiyong Zou, Linhuan Huang, Shaobin Lin, Zhiming He, Yanmin Luo · 2018

Objective To evaluate the incidence and characteristics of unusual twinning by using single nucleotide polymorphism (SNP) array to identify twin zygosity. Methods This study reviewed 386 twin pairs who were seen for prenatal or postnatal d…

Noninvasive prenatal paternity testing using targeted massively parallel sequencing Open

Ning Qu, Yifan Xie, Haiyan Li, Hao‐ Liang, Shaobin Lin , et al. · 2018

BACKGROUND Recent advances in massively parallel sequencing (MPS) technology have provided efficient methods for noninvasive prenatal paternity testing (NIPAT). However, a well‐accepted protocol has not been established. The present study …

Isolated chromosome 8p23.2-pter deletion: Novel evidence for developmental delay, intellectual disability, microcephaly and neurobehavioral disorders Open

Shanshan Shi, Shaobin Lin, Baojiang Chen, Yi Zhou · 2017

The current study presents a patient carrying a de novo ~6 Mb deletion of the isolated chromosome 8p23.2‑pter that was identified with a single‑nucleotide polymorphism array. The patient was characterized by developmental delay (DD)/intell…

Chromosome 10q26 deletion syndrome: Two new cases and a review of the literature Open

Shaobin Lin, Yi Zhou, Qun Fang, Jianzhu Wu, Zhi‐Qiang Zhang , et al. · 2016

The current study presents the cases of two unrelated patients with similar clinical features, including craniofacial anomalies, developmental delay/intellectual disability and cardiac malformations, that are consistent with chromosome 10q…

Distributions of heavy metals in maternal and cord blood and the association with infant birth weight in China. Open

Xiaobin Hu, Tongzhang Zheng, Yibin Cheng, Theodore Holford, Shaobin Lin , et al. · 2015

Se intake was low in Chinese women and their newborns, whereas Pb had the highest concentrations in both the maternal and cord blood samples of all toxic metals detected. Tl was a unique pollution source in this population, and Tl levels w…

Differing Microdeletion Sizes and Breakpoints in Chromosome 7q11.23 in Williams-Beuren Syndrome Detected by Chromosomal Microarray Analysis Open

Lin Li, Linhuan Huang, Yanmin Luo, Xuan Huang, Shaobin Lin , et al. · 2015

Williams-Beuren syndrome (WBS) manifests as supravalvular aortic stenosis, intellectual disability, developmental delay and characteristic facial features. The common WBS deletion region ranges from 1.55 to 1.84 Mb and primarily contains t…

Replication timing regulation in adults with chromosomal balance rearrangements Open

Yaoru Xie, Jian Wu, Shaobin Lin, Yi Zhou, Qun Fang , et al. · 2015

The alternative forms of the alleles in biallelic genes display a synchronous pattern of replication that is different from genes subjected to monoallelic expression, which exhibit an asynchronous mode of replication. The present study sou…

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