Genomic Testing in Adults With Undiagnosed Rare Conditions: Improvement of Diagnosis Using Clinical Exome Sequencing as a First-Tier Approach.
Petillo R, De Maggio I, Piscopo C, Chetta M, Tarsitano M, Chiriatti L, Sannino E, Torre S, D'Antonio M, D'Ambrosio P, Rambaldi M, Cioce M, De Stefano V, Parisi MR, Telese A, Oro M, Rivieccio M, Radio FC, Mancini C, Niceta M, Cordeddu V, Bruselles A, Mammì C, Dattola A, Fioretti T, Esposito G, Novelli A, Tessitore A, Tessa A, Santorelli FM, Iolascon A, Monica MD, Tartaglia M, Priolo M.
Petillo R, et al. Among authors: esposito g.
Clin Genet. 2025 Feb 1. doi: 10.1111/cge.14715. Online ahead of print.
Clin Genet. 2025.
PMID: 39891531