Meow‐Keong Thong

机构：University Malaya Medical Centre, University of Malaya, Jabatan Perkhidmatan Awam Malaysia, Universiti Tunku Abdul Rahman · ORCID：0000-0002-7288-7910

发表论文 167 篇 · 总被引 3332 次 · h-index 32

代表论文

• GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases (2023 · medRxiv · 被引 25)
• Intrathecal onasemnogene abeparvovec in treatment-naive patients with spinal muscular atrophy: a phase 3, randomized controlled trial (2025 · Nature Medicine · 被引 15)
• Telehealth for rare disease care, research, and education across the globe: A review of the literature by the IRDiRC telehealth task force (2024 · European Journal of Medical Genetics · 被引 14)
• Comparison of the ABC and ACMG systems for variant classification (2024 · European Journal of Human Genetics · 被引 14)
• The 1% gift to humanity: The Human Genome Project II (2024 · Cell Research · 被引 12)
• Age-specific breast and ovarian cancer risks associated with germline BRCA1 or BRCA2 pathogenic variants – an Asian study of 572 families (2024 · The Lancet Regional Health - Western Pacific · 被引 9)