Genomic Testing in Adults With Undiagnosed Rare Conditions: Improvement of Diagnosis Using Clinical Exome Sequencing as a First-Tier Approach

Adult patients with undiagnosed genetic disorders suffer most from diagnostic delay and seldom appear in cohort studies investigating the diagnostic yield in medical genetic clinical practice. Here we present the results of the diagnostic activity performed in a referral center on 654 consecutive, u...

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Veröffentlicht in:	Clinical genetics 2025-02
Hauptverfasser:	Petillo, Roberta, De Maggio, Ilaria, Piscopo, Carmelo, Chetta, Massimiliano, Tarsitano, Marina, Chiriatti, Luigi, Sannino, Elvira, Torre, Serena, D'Antonio, Marcella, D'Ambrosio, Paola, Rambaldi, Marco, Cioce, Maria, De Stefano, Valentina, Parisi, Maria Rita, Telese, Antonella, Oro, Maria, Rivieccio, Maria, Radio, Francesca Clementina, Mancini, Cecilia, Niceta, Marcello, Cordeddu, Viviana, Bruselles, Alessandro, Mammì, Corrado, Dattola, Adele, Fioretti, Tiziana, Esposito, Gabriella, Novelli, Antonio, Tessitore, Alessandro, Tessa, Alessandra, Santorelli, Filippo Maria, Iolascon, Achille, Monica, Matteo Della, Tartaglia, Marco, Priolo, Manuela
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
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