Publications
Check out research papers published by 3billion and collaborators.
- Paper Title
- ADGRG1-related polymicrogyria syndrome: report on a large consanguineous family with a novel variant and review
- Journal Name, Publication year
- Egyptian Journal of Medical Human Genetics, 2024
- 링크
- https://jmhg.springeropen.com/articles/10.1186/s43042-024-00499-1
- Paper Title
- A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia
- Journal Name, Publication year
- Journal of Human Genetics , 2024
- 링크
- https://www.nature.com/articles/s10038-024-01279-w
- Paper Title
- High prevalence of ALPK3 premature terminating variants in Korean hypertrophic cardiomyopathy patients
- Journal Name, Publication year
- Front. Cardiovasc. Med., 2024
- 링크
- https://www.frontiersin.org/journals/cardiovascular-medicine/articles/10.3389/fcvm.2024.1424551/full
- 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
