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: parisi mr.
Clin Genet. 2025 Aug;108(2):115-123. doi: 10.1111/cge.14715. Epub 2025 Feb 1.
Clin Genet. 2025.
PMID: 39891531