Article
Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies.
American journal of medical genetics. Part A - 1 Jul 2026
Bobbio Emanuele, Caiazza Martina, Monda Emanuele, Aruta Giustina, Budillon Alberto, Esposito Augusto, Fusco Adelaide, Cirillo Annapaola, Rubino Marta, Viscovo Immacolata, Scarano Gioacchino, Monica Matteo Della, Nigro Vincenzo, Piluso Giulio, Pecchia Leandro, Russo Maria Giovanna, Limongelli Giuseppe
Abstract excerpt
RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS-mitogen-activated protein kinase (RAS-MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to identify predictive clinical "red flags" using machine learning (ML)....
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