Publications
Check out research papers published by 3billion and collaborators.
- Paper Title
- Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndrome
- Journal Name, Publication year
- J Hum Genet, 2025
- 링크
- https://www.nature.com/articles/s10038-025-01325-1
- Paper Title
- Transcript Long-Read Sequencing Unveils the Molecular Complexity of a Novel ROGDI Splicing Variant in a Tunisian Family With Kohlschütter-Tönz Syndrome
- Journal Name, Publication year
- Clinical Genetics, 2025
- 링크
- https://onlinelibrary.wiley.com/doi/full/10.1111/cge.14725
- Paper Title
- Corneal Myofibromatous and Pterygium-Like Changes in a Family With a PDGFRB Variant
- Journal Name, Publication year
- CORNEA, 2025
- 링크
- https://journals.lww.com/corneajrnl/abstract/9900/corneal_myofibromatous_and_pterygium_like_changes.824.aspx
- Paper Title
- Case Report: The first Korean familial case of BCAP31-related deafness, dystonia, and cerebral hypomyelination
- Journal Name, Publication year
- Frotiers in Pediatrics, 2025
- 링크
- https://pmc.ncbi.nlm.nih.gov/articles/PMC11794251/
- 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
