Publications
Check out research papers published by 3billion and collaborators.
- Paper Title
- Novel SYK Variant Causes Enhanced SYK Autophosphorylation and PI3K Activation in an Antibody-Deficient Patient
- Journal Name, Publication year
- J Clin Immunol., 2025
- 링크
- https://pmc.ncbi.nlm.nih.gov/articles/PMC12537598/
- Paper Title
- Genomic Insights into Short Stature in Children Born Small for Gestational Age: A Korean Multicenter Exome Study
- Journal Name, Publication year
- J Clin Endocrinol Metab, 2025
- 링크
- https://academic.oup.com/jcem/article-lookup/doi/10.1210/clinem/dgaf533
- 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