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BMC Genomics|February 5, 2025
Molecular characterization of a rare TP63 variant associated with split-hand/split-foot malformation 4 and incomplete penetrance: disruption of the p63-Dlx signaling pathwayJianlong Zhuang, Yanqing Li, Yu'e Chen, et al.
Scientific Reports|January 27, 2024
Prenatal diagnosis and molecular cytogenetic characterization of fetuses with central nervous system anomalies using chromosomal microarray analysis: a seven-year single-center retrospective studyJianlong Zhuang, Na Zhang, Yu'e Chen, et al.
Frontiers in Genetics|July 22, 2022
Case Report: Prenatal Whole-Exome Sequencing Identified a Novel Nonsense Mutation of the KCNH2 Gene in a Fetus With Familial 2q14.2 DuplicationJianlong Zhuang, Chunnuan Chen, Yuanbai Wang, et al.
Frontiers in Pediatrics|November 1, 2021
The Genetic Etiology Diagnosis of Fetal Growth Restriction Using Single-Nucleotide Polymorphism-Based Chromosomal Microarray AnalysisYu'e Chen, Yingjun Xie, Yuying Jiang, et al.
Molecular Genetics & Genomic Medicine|July 24, 2023
Prenatal whole exome sequencing identified two rare compound heterozygous variants in EVC2 causing Ellis-van Creveld syndromeJianlong Zhuang, Shufen Liu, Junyu Wang, et al.
Molecular Genetics & Genomic Medicine|December 12, 2022
Etiological identification of recurrent male fatality due to a novel NSDHL gene mutation using trio whole-exome sequencing: A rare case report and literature reviewJianlong Zhuang, Qi Luo, Meihua Xie, et al.
Frontiers in Genetics|April 11, 2022
Case Report: Prenatal Diagnosis of a Novel Variant c.251dupT (p.N87Kfs*6) in BCOR Resulting in Oculofaciocardiodental Syndrome Using Whole-Exome SequencingJianlong Zhuang, Chunnuan Chen, Yu'e Chen, et al.
Frontiers in Pediatrics|April 25, 2022
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 SequencingJianlong Zhuang, Chunnuan Chen, Yu'e Chen, et al.
Molecules (Basel, Switzerland)|July 29, 2023
Catalytic Degradation of Triphenylmethane Dyes with an Iron Porphyrin Complex as a Cytochrome P450 ModelXiaoyan Lu, Qiman Che, Xinkai Niu, et al.
Frontiers in Genetics|September 12, 2022
Case Report: Novel compound heterozygous variants in CHRNA1 gene leading to lethal multiple pterygium syndrome: A case reportJianlong Zhuang, Junyu Wang, Qi Luo, et al.
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