Publications
Check out research papers published by 3billion and collaborators.
- 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
- 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
