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)