Publications
Check out research papers published by 3billion and collaborators.
- Paper Title
- Evaluating predictors of kinase activity of STK11 variants identified in primary human non-small cell lung cancers
- Journal Name, Publication year
- Hum Genet, 2025
- 링크
- http://127.0.0.1:10219/web_control_warning.html?connected=https://link.springer.com/article/10.1007/s00439-025-02726-0&URLHASH=815b6fea16e3558f3f429972ab2e6975102258b481f33f0a0db1eb837d265e1b&PID=1535&AUTH=b1c4fb9c9bc56d064b869ce8b80c1dc8b878844991286a8ed7a8882211c17998
- Paper Title
- Case Report: The first Korean familial case of BCAP31-related deafness, dystonia, and cerebral hypomyelination
- Journal Name, Publication year
- Frotiers in Pediatrics, 2025
- 링크
- https://pmc.ncbi.nlm.nih.gov/articles/PMC11794251/
- Paper Title
- Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders
- Journal Name, Publication year
- npj genomic medicine, 2025
- 링크
- https://www.nature.com/articles/s41525-024-00455-3
- Paper Title
- In vivo consequences of varying degrees of OTOA alteration elucidated using knock-in mouse models and pseudogene contamination-free long-read sequencing
- Journal Name, Publication year
- Genes & Diseases, 2024
- 링크
- https://www.sciencedirect.com/science/article/pii/S2352304225000224?via%3Dihub
- Paper Title
- A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy
- Journal Name, Publication year
- Molecular Genetics and Genomics, 2024
- 링크
- https://onlinelibrary.wiley.com/doi/10.1002/mgg3.70060
