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Clinical Chemistry|November 8, 2014
Noninvasive prenatal testing for Wilson disease by use of circulating single-molecule amplification and resequencing technology (cSMART)Weigang Lv, Xianda Wei, Ruolan Guo, et al.
Frontiers in Genetics|December 12, 2022
Case report: A novel heterozygous synonymous variant in deep exon region of <i>NIPBL</i> gene generating a non-canonical splice donor in a patient with cornelia de lange syndromeMeizhen Shi, Yuying Liang, Bobo Xie, et al.
Human Genomics|September 16, 2024
The cryptic complex rearrangements involving the DMD gene: etiologic clues about phenotypical differences revealed by optical genome mappingYunting Ma, Chunrong Gui, Meizhen Shi, et al.
BMC Medical Genomics|May 21, 2024
Complex genotype-phenotype correlation of MYH11: new insights from monozygotic twins with highly variable expressivity and outcomesXiaojiao Wei, Yunting Ma, Bobo Xie, et al.
Biology of Sex Differences|February 12, 2026
A hypomorphic SRD5A2 haplotype with a potential founder effect: composed of common variants in individuals with 5α-reductase type 2 deficiency from South ChinaXiaoyun Lei, Xu Zhou, Zifeng Cheng, et al.
BMC Medicine|December 11, 2025
Family trios/quartets analysis based on the Newborn Genomic Atlas for Thalassemia project in GuangxiWei Wei, Chunrong Gui, Lixia Zhan, et al.
Frontiers in Cell and Developmental Biology|May 3, 2021
Heterozygous Recurrent Mutations Inducing Dysfunction of <i>ROR2</i> Gene in Patients With Short StatureBaoheng Gui, Chenxi Yu, Xiaoxin Li, et al.
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