Jiahan Zhan

发表论文 7 篇 · 总被引 73 次 · h-index 4

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)
• Comprehensive analysis of thalassemia alleles (CATSA) based on third-generation sequencing is a comprehensive and accurate approach for neonatal thalassemia screening (2024 · Clinica Chimica Acta · 被引 12)
• 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)
• An Effective and Universal Long-Read Sequencing-Based Approach for SMN1 2 + 0 Carrier Screening through Family Trio Analysis (2023 · Clinical Chemistry · 被引 8)
• Haplotype‐Resolved Genotyping and Association Analysis of 1,020 β‐Thalassemia Patients by Targeted Long‐Read Sequencing (2024 · Advanced Science · 被引 3)
• Evaluating the clinical utility of a long-read sequencing-based approach in genetic testing of fragile-X syndrome (2023 · Clinica Chimica Acta · 被引 2)