Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders.
María Isabel Álvarez-MoraAurora SánchezLaia Rodríguez-RevengaJordi CorominasRaquel RabionetSusana PuigIrene MadrigalPublished in: Orphanet journal of rare diseases (2022)
NGS is more powerful in identifying causative pathogenic variant than conventional algorithms based on chromosomal microarray as first-tier test. Our results reinforce the implementation of NGS as a first-test in genetic diagnosis of NDDs.