Hane Lee

机构：University of California, Los Angeles, 3billion, Inc. (South Korea) · ORCID：0000-0002-4736-0412

发表论文 247 篇 · 总被引 13500 次 · h-index 57

代表论文

• Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome (2023 · The American Journal of Human Genetics · 被引 21)
• Exome Sequencing Has a High Diagnostic Rate in Sporadic Congenital Hypopituitarism and Reveals Novel Candidate Genes (2024 · The Journal of Clinical Endocrinology & Metabolism · 被引 18)
• A programmed decline in ribosome levels governs human early neurodevelopment (2025 · Nature Cell Biology · 被引 16)
• Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders (2025 · npj Genomic Medicine · 被引 11)
• Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections (2023 · Genetics in Medicine · 被引 11)
• KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. (2025 · PubMed · 被引 9)