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Rare-ID: Genomic Diagnosis in Symptomatic Neonates and Young Infants with Complex Clinical Phenotypes: A Descriptive Cohort Study
Findings support the diagnostic value of genomic testing in selected symptomatic neonates and young infants, while the small, heterogeneous cohort, sequential non-equivalent workflows, and incomplete outcome data preclude conclusions about comparative WES/WGS performance or population newborn screening.