Jiansheng Xie

机构：Sir Run Run Shaw Hospital, University of Hong Kong - Shenzhen Hospital, Zhejiang University, University of Hong Kong

发表论文 63 篇 · 总被引 559 次 · h-index 12

代表论文

• A novel SLC6A8 mutation associated with intellectual disabilities in a Chinese family exhibiting creatine transporter deficiency: case report (2018 · BMC Medical Genetics · 被引 18)
• Performance characterization of PCR-free whole genome sequencing for clinical diagnosis (2022 · Medicine · 被引 16)
• TRIM59 deficiency promotes M1 macrophage activation and inhibits colorectal cancer through the STAT1 signaling pathway (2024 · Scientific Reports · 被引 15)
• Genome-wide association study of maternal plasma metabolites during pregnancy (2024 · Cell Genomics · 被引 12)
• De novo paternal origin duplication of chromosome 11p15.5: report of two Chinese cases with Beckwith-Wiedemann syndrome (2017 · Molecular Cytogenetics · 被引 11)
• Screening of triploid with low-coverage whole-genome sequencing by a single-nucleotide polymorphism-based test in miscarriage tissue (2019 · Journal of Assisted Reproduction and Genetics · 被引 8)