Publications
Check out research papers published by 3billion and collaborators.
- Paper Title
- Explicable prioritization of genetic variants by integration of rule-based and machine learning algorithms for diagnosis of rare Mendelian disorders
- Journal Name, Publication year
- Human genomics, 2024
- 링크
- https://humgenomics.biomedcentral.com/articles/10.1186/s40246-024-00595-8
- Paper Title
- Whole exome sequencing in Serbian patients with hereditary spastic paraplegia
- Journal Name, Publication year
- Neurogenetics, 2024
- 링크
- https://link.springer.com/article/10.1007/s10048-024-00755-x
- Paper Title
- Deciphering the etiology of undiagnosed ocular anomalies along with systemic alterations in pediatric patients through whole exome sequencing
- Journal Name, Publication year
- Sci Rep, 2024
- 링크
- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11193775/
- Paper Title
- Knockout mice with pituitary malformations help identify human cases of hypopituitarism
- Journal Name, Publication year
- Genome Med, 2024
- 링크
- https://genomemedicine.biomedcentral.com/articles/10.1186/s13073-024-01347-y
- Paper Title
- TEK gene-related primary congenital glaucoma: Phenotypic features and mutational spectrum in a Mexican cohort of 10 unrelated families
- Journal Name, Publication year
- Am J Med Genet A, 2024
- 링크
- https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.63716
