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David I. Francis

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Open access Jul 2026

Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval.

Current knowledge on the genotypic and phenotypic spectra of SET-NDD is expanded, and pinpoints a smaller 9q34.11 critical region excluding upstream NDD-associated genes, STXBP1 and SPTAN1, implicating SET as a significant NDD-associated gene.

Angelo Condell, Elaine Zhang, Tim Sikora et al. · 0 citations