Publications by authors named "Carla Lombardi"
Article Synopsis
- * An adult woman with ongoing respiratory issues underwent extensive genetic testing, leading to the identification of the novel haplotype F508del/E583G, with bioinformatics analyses suggesting that the E583G variant may be harmful.
- * The research highlights the importance of updated CFTR-RD guidelines, emphasizing the need for thorough evaluations when discovering new variants to provide better diagnostic and treatment options.
Genes (Basel)
August 2023
Article Synopsis
- * Using next-generation sequencing (NGS), researchers analyzed 770 subjects, finding that 23% carried at least one alternative CFTR allele, with a carrier frequency of 1 in 12 for pathogenic variants.
- * The analysis revealed three novel variants with potential damaging effects and emphasized that NGS not only identifies asymptomatic carriers but also offers an extensive overview of CFTR variants, presenting challenges and insights for clinicians.
