Scholay

学术搜索 · AI 审稿 · LaTeX 协作

Wanli Meng

机构:Berry Oncology (China)

发表论文 12 篇 · 总被引 106 次 · h-index 6

代表论文

  • Comprehensive Analysis of Fragile X Syndrome: Full Characterization of the FMR1 Locus by Long-Read Sequencing (2022 · Clinical Chemistry · 被引 36)
  • A high-fidelity long-read sequencing-based approach enables accurate and effective genetic diagnosis of spinal muscular atrophy (2023 · Clinica Chimica Acta · 被引 12)
  • Identification of a novel 10.3 kb deletion causing α0-thalassemia by third-generation sequencing: Pedigree analysis and genetic diagnosis (2023 · Clinical Biochemistry · 被引 12)
  • The comprehensive analysis of thalassemia alleles (CATSA) based on single-molecule real-time technology (SMRT) is a more powerful strategy in the diagnosis of thalassemia caused by rare variants (2023 · Clinica Chimica Acta · 被引 10)
  • Long-read sequencing enables comprehensive molecular genetic diagnosis of Fabry disease (2024 · Human Genomics · 被引 8)
  • Targeted long-read sequencing facilitates effective carrier screening for complex monogenic diseases including spinal muscular atrophy, α-/β-thalassemia, 21-hydroxylase deficiency, and fragile-X syndrome (2025 · Journal of Translational Medicine · 被引 7)