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
- Primary ciliary dyskinesia in Egypt: First report of cilia ultrastructural defects and novel genetic variants
- Journal Name, Publication year
- Pediatric Pulmonology, 2024
- 링크
- https://onlinelibrary.wiley.com/doi/10.1002/ppul.26937
- Paper Title
- ELMO2-related Intraosseous Vascular Malformation: Report of four new cases with novel pathogenic variants, clinical follow-up and therapeutic approaches
- Journal Name, Publication year
- EUROPEAN JOURNAL OF HUMAN GENETICS, 2024
- 링크
- https://pubmed.ncbi.nlm.nih.gov/39627357/
- 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
