J. Zhuang

发表

The Genetic Etiology Diagnosis of Fetal Growth Restriction Using Single-Nucleotide Polymorphism-Based Chromosomal Microarray Analysis

G. Lyu, Yingjun Xie, Yu'e Chen, 2021, Frontiers in Pediatrics.

Molecular Characterization Analysis of Thalassemia and Hemoglobinopathy in Quanzhou, Southeast China: A Large-Scale Retrospective Study

Dongmei Chen, Yingjun Xie, Yuying Jiang, 2021, Frontiers in Genetics.

Identification of a new β-thalassaemia variant Term CD+32(HBB: c.32A>C) in two Chinese families

Jianxing Zeng, Yuying Jiang, Shuhong Zeng, 2020, Journal of Clinical Pathology.

Molecular analysis of α-thalassemia and β-thalassemia in Quanzhou region Southeast China

Junyu Wang, Yuying Jiang, Shuhong Zeng, 2019, Journal of Clinical Pathology.

Combined primary carnitine deficiency with neonatal intrahepatic cholestasis caused by citrin deficiency in a Chinese newborn

Yiming Lin, Chunmei Lin, Zhenzhu Zheng, 2020, BMC Pediatrics.

[Generation and characterization of the adult neuron-specific ADAM10 knock-out mice].

J. Zhuang, Jun Liu, Changwen Zhou, 2012, Yi chuan = Hereditas.

Identification of partial trisomy 13q in two unrelated patients using single-nucleotide polymorphism array and literature overview

Chunnuan Chen, Yingjun Xie, Yuying Jiang, 2022, Molecular cytogenetics.

Identification of a Rare Variant of c.1777G>A (p.G593S) in the COL1A1 Gene as the Etiology of Recurrent Osteogenesis Imperfecta by Whole-Exome Sequencing

Chunnuan Chen, Dongmei Chen, Yingjun Xie, 2022, Frontiers in Pediatrics.

Case Report: Novel compound heterozygous variants in CHRNA1 gene leading to lethal multiple pterygium syndrome: A case report

Chunnuan Chen, Junyu Wang, Yingjun Xie, 2022, Frontiers in Genetics.

Expanded noninvasive prenatal testing for fetal aneuploidy and copy number variations and parental willingness for invasive diagnosis in a cohort of 18,516 cases

Yanru Huang, Meihua Tan, Jia Li, 2021, BMC Medical Genomics.

Parental willing to take invasive diagnosis after Expanded Noninvasive Prenatal Testing (expanded NIPT) in a cohort of 24768 cases

Yanru Huang, Meihua Tan, Jia Li, 2020 .

PTEN expression in human cumulus cells is associated with embryo development competence.

Jianfeng Yao, Rongfu Huang, Ming Li, 2022, Zygote.

Application of the BACs-on-Beads assay for the prenatal diagnosis of chromosomal abnormalities in Quanzhou, China

Chunnuan Chen, Chunling Lv, Yuying Jiang, 2021, BMC Pregnancy and Childbirth.

A First Clinical and Molecular Study of Rare IVS-II-806 (G > C) (HBB:c.316-45G > C) Variant in the β-globin Gene: A Possibly Benign Variant

Yuying Jiang, Q. Luo, Shuhong Zeng, 2022, Indian Journal of Hematology and Blood Transfusion.

Etiological identification of recurrent male fatality due to a novel NSDHL gene mutation using trio whole‐exome sequencing: A rare case report and literature review

Chunnuan Chen, Yingjun Xie, Yuying Jiang, 2022, Molecular genetics & genomic medicine.

Molecular analysis of a large novel deletion causing α+-thalassemia

Yanchao Pan, Yuying Jiang, Shuhong Zeng, 2019, BMC Medical Genetics.

A de novo PAK1 likely pathogenic variant and a de novo terminal 1q microdeletion in a Chinese girl with global developmental delay, severe intellectual disability, and seizures

Chunnuan Chen, Yingjun Xie, Yuying Jiang, 2023, BMC Medical Genomics.

A prenatal diagnosis and genetics study of five pedigrees in the Chinese population with Xp22.31 microduplication

Yiming Lin, Chunling Lv, Yuying Jiang, 2019, Molecular Cytogenetics.

Newborn screening for isovaleric acidemia in Quanzhou, China.

Yiming Lin, Zhenzhu Zheng, Qingliu Fu, 2020, Clinica chimica acta; international journal of clinical chemistry.

Molecular cytogenetic analysis of partial monosomy 10p and trisomy 10q resulting from familial pericentric inversion (10): a first case report in Chinese population

Chunnuan Chen, Yingjun Xie, Yuying Jiang, 2022, Molecular cytogenetics.

Cytogenetic and molecular analysis of distal 4q duplication with distinctive phenotype using single-nucleotide polymorphism array

Yingjun Xie, Yuying Jiang, Shuhong Zeng, 2021, Molecular cytogenetics.

The 46, XX Ovotesticular Disorder of Sex Development With Xq27.1q27.2 Duplication Involving the SOX3 Gene: A Rare Case Report and Literature Review

Chunnuan Chen, Jia Li, Yiming Lin, 2021, Frontiers in Pediatrics.

Effects of ADAM10 deletion on Notch-1 signaling pathway and neuronal maintenance in adult mouse brain.

J. Zhuang, Changwen Zhou, Qiulan Wei, 2015, Gene.

Recent research progress on metabolic syndrome and risk of Parkinson’s disease

X. Chen, Chunhai Chen, J. Zhuang, 2022, Reviews in the neurosciences.

Expanded noninvasive prenatal testing for fetal aneuploidy and copy number variations and parental willingness for invasive diagnosis in a cohort of 18,516 cases

Yanru Huang, Meihua Tan, Jia Li, 2021, BMC medical genomics.

Prenatal whole exome sequencing identified two rare compound heterozygous variants in EVC2 causing Ellis‐van Creveld syndrome

Chunnuan Chen, Junyu Wang, Yuying Jiang, 2023, Molecular genetics & genomic medicine.

Case Report: Prenatal Whole-Exome Sequencing Identified a Novel Nonsense Mutation of the KCNH2 Gene in a Fetus With Familial 2q14.2 Duplication

Chunnuan Chen, Yingjun Xie, Yuying Jiang, 2022, Frontiers in Genetics.

Case Report: Prenatal Diagnosis of a Novel Variant c.251dupT (p.N87Kfs*6) in BCOR Resulting in Oculofaciocardiodental Syndrome Using Whole-Exome Sequencing

Chunnuan Chen, Yingjun Xie, Yuying Jiang, 2022, Frontiers in Genetics.

Epilepsy Combined With Multiple Gene Heterozygous Mutation

Xiaofang Sun, Sun Xiaofang, Yingjun Xie, 2022, Frontiers in Pediatrics.

[Genetic Analysis and Prenatal Diagnosis of Thalassemia in Couples of Childbearing Age in Quanzhou Region Fujian Province, China].

Yuying Jiang, J. Zhuang, N. Zhang, 2022, Zhongguo shi yan xue ye xue za zhi.

A First Clinical and Molecular Study of Rare IVS-II-806 (G > C) (HBB:c.316-45G > C) Variant in the β-globin Gene: A Possibly Benign Variant

Yuying Jiang, Q. Luo, Shuhong Zeng, 2022, Indian Journal of Hematology and Blood Transfusion.

[Clinical analysis of Sweet syndrome with myelodysplasia syndrome].

Y. Liu, J. Zhuang, L. Li, 2016, Zhonghua yi xue za zhi.

Molecular analysis of a large novel deletion causing α+-thalassemia

Yanchao Pan, Yuying Jiang, Shuhong Zeng, 2019, BMC Medical Genetics.

Initial clinical and molecular investigation of 20q13.33 microdeletion with 17q25.3/14q32.31q32.33 microduplication in Chinese pediatric patients

Chunnuan Chen, Junyu Wang, Yuying Jiang, 2024, Molecular genetics & genomic medicine.

Identification of a novel isolated 4q35.2 microdeletion in a Chinese pediatric patient using chromosomal microarray analysis: a case report and literature review

Chunnuan Chen, Yuying Jiang, J. Zhuang, 2023, Molecular Cytogenetics.