Publications
Check out research papers published by 3billion and collaborators.
- Paper Title
- Whole exome sequencing identified five novel variants in CNTN2, CARS2, ARSA, and CLCN4 leading to epilepsy in consanguineous families
- Journal Name, Publication year
- frontiers in genetics, 2023
- 링크
- https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2023.1185065/full
- Paper Title
- Report of Hermansky–Pudlak Syndrome in Two Families with Novel Variants in HPS3 and HPS4 Genes
- Journal Name, Publication year
- Genes (Basel), 2023
- 링크
- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9858993/
- Paper Title
- Schinzel-Giedion syndrome: a rare cause of psychomotor delay and refractory seizures
- Journal Name, Publication year
- Global Pediatrics, 2023
- 링크
- https://www.sciencedirect.com/science/article/pii/S2667009723000908?via%3Dihub
- Paper Title
- Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
- Journal Name, Publication year
- Am J Hum Genet, 2023
- 링크
- https://pubmed.ncbi.nlm.nih.gov/38118446/
- Paper Title
- Unveiling genetics of non-syndromic albinism using whole exome sequencing: A comprehensive study of TYR, TYRP1, OCA2 and MC1R genes in 17 families
- Journal Name, Publication year
- Gene, 2023
- 링크
- https://pubmed.ncbi.nlm.nih.gov/37956964/
