Advancing Neuropediatric Rare Disease Diagnosis Through Clinical Genome Sequencing.
Sirchia F; Kalantari S; Carli D; Zadorozhna M; Bassanese F; Thorpe Venti E; Taft RJ; Kesari A · 2026 · Pediatric neurology
WASTE classifies this as Negative / Null Result Report · AI classification, approximate
The study found no significant effect — useful as a negative control or null benchmark for your own design.
Abstract (excerpt)
Background Many patients with rare genetic diseases remain undiagnosed or receive a molecular diagnosis only after years. In this study, we want to evaluate the usefulness of clinical genome sequencing (cGS) in a cohort of complex…
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Metadata source: Europe PMC · DOI 10.1016/j.pediatrneurol.2026.01.004