Publications
Check out research papers published by 3billion and collaborators.
- Paper Title
- Genetic variants in NHEJ1 and related DNA repair disorders: insights into phenotypic heterogeneity and links to hypoplastic myelodysplastic syndromes and familial hematological malignancies susceptibility
- Journal Name, Publication year
- Annals of Hematology, 2025
- 링크
- https://link.springer.com/article/10.1007/s00277-025-06257-6
- Paper Title
- Genome Sequencing of Rare Disease Patients Through the Korean Regional Rare Disease Diagnostic Support Program
- Journal Name, Publication year
- Human mutation, 2025
- 링크
- https://onlinelibrary.wiley.com/doi/full/10.1155/humu/6096758
- Paper Title
- NEUROMYODredger: Whole Exome Sequencing for the Diagnosis of Neurodevelopmental and Neuromuscular Disorders in Seven Countries
- Journal Name, Publication year
- Clinical genetics , 2025
- 링크
- https://onlinelibrary.wiley.com/doi/10.1111/cge.14736
- Paper Title
- Hereditary, non HINT1 related, axonal neuropathy with neuromyotonia
- Journal Name, Publication year
- Neurol Sci, 2025
- 링크
- https://link.springer.com/article/10.1007/s10072-025-08022-z
- Paper Title
- Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndrome
- Journal Name, Publication year
- J Hum Genet, 2025
- 링크
- https://www.nature.com/articles/s10038-025-01325-1
