Publications
Check out research papers published by 3billion and collaborators.
- Paper Title
- NEUROMYODredger: Whole Exome Sequencing for the Diagnosis of Neurodevelopmental and Neuromuscular Disorders in Seven Countries
- Journal Name, Publication year
- Clinical genetics , 2025
- 링크
- https://onlinelibrary.wiley.com/doi/10.1111/cge.14736
- Paper Title
- Hereditary, non HINT1 related, axonal neuropathy with neuromyotonia
- Journal Name, Publication year
- Neurol Sci, 2025
- 링크
- https://link.springer.com/article/10.1007/s10072-025-08022-z
- 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