Chong Ae Kim

机构：Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo · ORCID：0000-0002-1754-1300

发表论文 465 篇 · 总被引 15807 次 · h-index 61

代表论文

• Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay (2025 · npj Genomic Medicine · 被引 6)
• Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function (2025 · Nature Genetics · 被引 3)
• Clinical and Molecular Characterization of Xia–Gibbs Syndrome: Expanding the Phenotypic Spectrum in a Brazilian Cohort (2025 · Clinical Genetics · 被引 2)
• Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders (2025 · Journal of Human Genetics · 被引 1)
• Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability (2025 · The American Journal of Human Genetics · 被引 1)
• Clinical Utility of Multitissue Genomic Arrays in Diagnosing Pigmentary Mosaicism Associated with Neurodevelopmental Delay (2025 · Journal of Molecular Diagnostics · 被引 1)