Publications
Check out research papers published by 3billion and collaborators.
- Paper Title
- Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders
- Journal Name, Publication year
- npj genomic medicine, 2025
- 링크
- https://www.nature.com/articles/s41525-024-00455-3
- Paper Title
- In vivo consequences of varying degrees of OTOA alteration elucidated using knock-in mouse models and pseudogene contamination-free long-read sequencing
- Journal Name, Publication year
- Genes & Diseases, 2024
- 링크
- https://www.sciencedirect.com/science/article/pii/S2352304225000224?via%3Dihub
- Paper Title
- A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy
- Journal Name, Publication year
- Molecular Genetics and Genomics, 2024
- 링크
- https://onlinelibrary.wiley.com/doi/10.1002/mgg3.70060
- Paper Title
- Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder
- Journal Name, Publication year
- BRAIN, 2024
- 링크
- https://academic.oup.com/brain/advance-article/doi/10.1093/brain/awae363/7927689?login=false
- Paper Title
- ELMO2-related intraosseous vascular malformation: new cases with novel pathogenic variants, clinical follow-up and therapeutic approaches
- Journal Name, Publication year
- European Journal of Human Genetics, 2024
- 링크
- https://www.nature.com/articles/s41431-024-01739-z
