Publications by authors named "Cecilia Maria Taccagni"
Eur J Hum Genet
January 2025
Article Synopsis
- Joubert syndrome (JS) is a complex genetic disorder that affects brain development but many patients remain undiagnosed even after exome sequencing.
- This study aimed to improve diagnosis by reanalyzing existing sequencing data to find hidden genetic variants, particularly copy number variants (CNVs) and splicing variations.
- The researchers found that these cryptic variants could be identified in a significant number of cases, providing a clearer diagnosis for 24% of previously undiagnosed patients, especially those with specific gene mutations.
