Mi‐Ae Jang

机构：Samsung Medical Center, Sungkyunkwan University · ORCID：0000-0002-6558-5236

发表论文 179 篇 · 总被引 1765 次 · h-index 22

代表论文

• Mechanism of EHMT2-mediated genomic imprinting associated with Prader-Willi syndrome (2025 · Nature Communications · 被引 5)
• Retinitis Pigmentosa GTPase Regulator-Associated X-Linked Retinitis Pigmentosa: Molecular Genetics and Clinical Characteristics (2025 · American Journal of Ophthalmology · 被引 5)
• Carrier Frequency and Prevalence of Citrin Deficiency in East Asians and Koreans Based on Comprehensive Analysis of Pathogenic SLC25A13 Variants (2025 · Annals of Laboratory Medicine · 被引 4)
• Reassessment of FBN1 variants of uncertain significance using updated ClinGen guidance for PP1/BS4 and PP4 criteria (2025 · European Journal of Human Genetics · 被引 4)
• Reassessment of variants of uncertain significance in tumor suppressor genes using new ClinGen PP1/PP4 criteria guidance (2025 · European Journal of Human Genetics · 被引 2)
• Genetic epidemiology of epithelial-stromal TGFBI dystrophies in a large Korean population (2025 · Scientific Reports · 被引 2)