Publications
Check out research papers published by 3billion and collaborators.
- Paper Title
- A first large study of whole-exome sequencing (WES) in 489 patients with suspected rare genetic disorders at a tertiary centre in Malaysia
- Journal Name, Publication year
- Rare, 2025
- 링크
- https://www.sciencedirect.com/science/article/pii/S2950008725000468
- Paper Title
- Clinical implementation of a multidisciplinary pipeline for genome sequencing in rare diseases: A prospective, multicenter, observational cohort study
- Journal Name, Publication year
- Clinical and translational medicine, 2025
- 링크
- https://onlinelibrary.wiley.com/doi/10.1002/ctm2.70401
- 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 FamiliesAm J Med Genet A
- Journal Name, Publication year
- Am J Med Genet A, 2025
- 링크
- https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.64068
- Paper Title
- Critical assessment of missense variant effect predictors on disease-relevant variant data
- Journal Name, Publication year
- Hum Genetics, 2025
- 링크
- https://link.springer.com/article/10.1007/s00439-025-02732-2
