Publications
Check out research papers published by 3billion and collaborators.
- Paper Title
- Developing a disease-specific accessible transcriptional signature as a biomarker for ataxia with oculomotor apraxia type 2
- Journal Name, Publication year
- Mol Med, 2025
- 링크
- https://molmed.biomedcentral.com/articles/10.1186/s10020-025-01257-8
- Paper Title
- An Update on 3M Syndrome: Review of Clinical and Molecular Aspects and Report of Additional Families
- Journal Name, Publication year
- Am J Med Genet A, 2025
- 링크
- https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.64068
- Paper Title
- Situs Inversus in an Infant With Hypomandibular Faciocranial Syndrome: Clinical Overlap With the Agnathia-Otocephaly Complex
- Journal Name, Publication year
- "Am J Med Genet A .", 2025
- 링크
- https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.64045
- 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